Variant report

Variant	esv2756862
Chromosome Location	chr1:145597116-146013270
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3626)
CpG islands
(count:3296)
Chromatin interactive
region (count:199)
LncRNA
region (count:20)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:3626 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:145669121-145669489	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:145611160-145611212	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:145713597-145713890	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:145652393-145652726	HepG2	liver:	n/a	chr1:145652583-145652599
5	ARID3A	chr1:145724291-145724662	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:145727419-145727862	HepG2	liver:	n/a	n/a
7	ARID3A	chr1:145743576-145744192	HepG2	liver:	n/a	n/a
8	ARID3A	chr1:145723509-145724031	HepG2	liver:	n/a	n/a
9	ATF1	chr1:145744274-145744404	K562	blood:	n/a	n/a
10	ATF1	chr1:145726657-145726707	K562	blood:	n/a	n/a
11	ATF1	chr1:145826882-145827258	K562	blood:	n/a	n/a
12	ATF1	chr1:145827976-145828005	K562	blood:	n/a	n/a
13	ATF2	chr1:145610662-145611137	GM12878	blood:	n/a	n/a
14	ATF3	chr1:145610554-145611158	A549	lung:	n/a	n/a
15	ATF3	chr1:145741944-145742171	K562	blood:	n/a	n/a
16	ATF3	chr1:145652224-145652925	A549	lung:	n/a	n/a
17	ATF3	chr1:145728412-145728856	A549	lung:	n/a	n/a
18	ATF3	chr1:145826896-145827204	K562	blood:	n/a	n/a
19	ATF3	chr1:145610947-145611221	K562	blood:	n/a	n/a
20	BACH1	chr1:145713730-145714016	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr1:146009588-146009634	H1-hESC	embryonic stem cell:	n/a	n/a
22	BATF	chr1:145998785-145998994	GM12878	blood:	n/a	n/a
23	BATF	chr1:146008840-146009039	GM12878	blood:	n/a	n/a
24	BATF	chr1:145890221-145890490	GM12878	blood:	n/a	n/a
25	BATF	chr1:145890292-145890479	GM12878	blood:	n/a	n/a
26	BATF	chr1:145928597-145929150	GM12878	blood:	n/a	chr1:145929003-145929013 chr1:145928936-145928947
27	BATF	chr1:145616515-145616956	GM12878	blood:	n/a	n/a
28	BATF	chr1:145826778-145827086	GM12878	blood:	n/a	n/a
29	BATF	chr1:146003818-146004259	GM12878	blood:	n/a	n/a
30	BATF	chr1:145797747-145797953	GM12878	blood:	n/a	n/a
31	BATF	chr1:145970284-145970484	GM12878	blood:	n/a	n/a
32	BATF	chr1:145797736-145797971	GM12878	blood:	n/a	n/a
33	BATF	chr1:145772131-145772522	GM12878	blood:	n/a	n/a
34	BATF	chr1:145915900-145916289	GM12878	blood:	n/a	n/a
35	BATF	chr1:145929569-145929873	GM12878	blood:	n/a	chr1:145929738-145929749
36	BATF	chr1:145641964-145642749	GM12878	blood:	n/a	n/a
37	BATF	chr1:145928601-145929246	GM12878	blood:	n/a	chr1:145929003-145929013 chr1:145928936-145928947
38	BATF	chr1:145758548-145758852	GM12878	blood:	n/a	chr1:145758706-145758717
39	BATF	chr1:145968549-145969884	GM12878	blood:	n/a	n/a
40	BATF	chr1:145772188-145772556	GM12878	blood:	n/a	n/a
41	BATF	chr1:145915866-145916232	GM12878	blood:	n/a	n/a
42	BATF	chr1:146003829-146004196	GM12878	blood:	n/a	n/a
43	BATF	chr1:146011751-146011992	GM12878	blood:	n/a	n/a
44	BATF	chr1:145759263-145759815	GM12878	blood:	n/a	chr1:145759434-145759444 chr1:145759499-145759510
45	BATF	chr1:145969017-145969565	GM12878	blood:	n/a	n/a
46	BATF	chr1:145978947-145979240	GM12878	blood:	n/a	n/a
47	BATF	chr1:145992425-145992621	GM12878	blood:	n/a	n/a
48	BATF	chr1:145715439-145715805	GM12878	blood:	n/a	n/a
49	BATF	chr1:145759198-145759811	GM12878	blood:	n/a	chr1:145759434-145759444 chr1:145759499-145759510
50	BATF	chr1:145616578-145616945	GM12878	blood:	n/a	n/a

(count:3296 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:145611001-145611051	AG09319	gingival:	n/a
2	chr1:145827062-145827112	MCF10A-Er-Src	breast:	n/a
3	chr1:145611001-145611051	AG09319	gingival:	n/a
4	chr1:145827062-145827112	MCF10A-Er-Src	breast:	n/a
5	chr1:145714143-145714193	AG04449	skin:	fetal
6	chr1:145828001-145828051	HRPEpiC	eye:	n/a
7	chr1:145713802-145713852	HAEpiC	amniotic membrane:	n/a
8	chr1:145608565-145608615	ECC-1	luminal epithelium:	n/a
9	chr1:145713717-145713767	HepG2	liver:	n/a
10	chr1:145610875-145610925	CMK	blood:	n/a
11	chr1:145705805-145705855	ECC-1	luminal epithelium:	n/a
12	chr1:145714124-145714174	HEEpiC	esophagus:	n/a
13	chr1:145670590-145670640	BJ	skin:	n/a
14	chr1:145994961-145995011	A549	lung:	n/a
15	chr1:145989661-145989711	HPAEpiC	pulmonary alveolar:	n/a
16	chr1:145714124-145714174	GM19239	blood:	n/a
17	chr1:145994961-145995011	HCT-116	colon:	n/a
18	chr1:145727320-145727370	RPTEC	kidney:	n/a
19	chr1:145727762-145727812	T-47D	breast:	n/a
20	chr1:145611441-145611491	IMR90	lung:	fetal
21	chr1:145611013-145611063	PANC-1	pancreas:	n/a
22	chr1:145610755-145610805	NB4	blood:	n/a
23	chr1:145611075-145611125	NB4	blood:	n/a
24	chr1:145611075-145611125	MCF-7	breast:	n/a
25	chr1:145828006-145828056	K562	blood:	n/a
26	chr1:145828006-145828056	ECC-1	luminal epithelium:	n/a
27	chr1:145727320-145727370	HIPEpiC	eye:	n/a
28	chr1:145610795-145610845	HCM	heart:	n/a
29	chr1:145610755-145610805	CMK	blood:	n/a
30	chr1:145727762-145727812	SK-N-MC	brain:	n/a
31	chr1:145715672-145715722	AG09319	gingival:	n/a
32	chr1:145610795-145610845	GM12878	blood:	n/a
33	chr1:145670590-145670640	HEK293	kidney:	embryo
34	chr1:145663297-145663347	NHDF-neo	bronchial:	n/a
35	chr1:145611013-145611063	SK-N-MC	brain:	n/a
36	chr1:145608565-145608615	HRE	kidney:	n/a
37	chr1:145611008-145611058	Jurkat	blood:	n/a
38	chr1:145713717-145713767	AoSMC	blood vessel:	n/a
39	chr1:145715134-145715184	ProgFib	skin:	n/a
40	chr1:145823821-145823871	MCF10A-Er-Src	breast:	n/a
41	chr1:145714124-145714174	Hepatocyte	liver:	n/a
42	chr1:145826877-145826927	ProgFib	skin:	n/a
43	chr1:145715719-145715769	ECC-1	luminal epithelium:	n/a
44	chr1:145610719-145610769	NB4	blood:	n/a
45	chr1:145611001-145611051	BJ	skin:	n/a
46	chr1:145610622-145610672	HCPEpiC	choroid plexus:	n/a
47	chr1:145667233-145667283	GM12891	blood:	n/a
48	chr1:145713802-145713852	SK-N-MC	brain:	n/a
49	chr1:145610689-145610739	LNCaP	prostate:	n/a
50	chr1:145716693-145716743	ProgFib	skin:	n/a

(count:199 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr1:145713489..145715553-chr1:145718049..145720953,3	K562	blood:
2	chr1:145610144..145611080-chr12:7053189..7053693,2	HCT-116	colon:
3	chr1:145596929..145598471-chr1:145609575..145612124,2	MCF-7	breast:
4	chr1:145610819..145611439-chr19:12035368..12035912,2	NB4	blood:
5	chr1:145588514..145592918-chr1:145601757..145608951,8	MCF-7	breast:
6	chr1:145825409..145828267-chr1:145829547..145831567,2	K562	blood:
7	chr1:145660794..145663073-chr1:145674506..145676644,2	K562	blood:
8	chr1:145580127..145582819-chr1:145602636..145605491,2	MCF-7	breast:
9	chr1:145730365..145732780-chr1:145736889..145738621,2	MCF-7	breast:
10	chr1:145588936..145589898-chr1:145609670..145610626,2	K562	blood:
11	chr1:145610897..145612551-chr1:145712270..145714983,2	MCF-7	breast:
12	chr1:145610919..145612451-chr1:145649874..145652324,2	MCF-7	breast:
13	chr1:145692412..145694910-chr1:145722142..145723800,2	MCF-7	breast:
14	chr1:145721524..145724567-chr1:145726836..145730406,4	K562	blood:
15	chr1:145609464..145611174-chr4:2263202..2265925,2	MCF-7	breast:
16	chr1:145652509..145654360-chr1:145659470..145661374,2	MCF-7	breast:
17	chr1:145610525..145611192-chr5:33440978..33441639,2	Hela-S3	cervix:
18	chr1:145650975..145653931-chr1:145653958..145656506,3	MCF-7	breast:
19	chr1:145679367..145681441-chr1:145682956..145685876,2	MCF-7	breast:
20	chr1:145594308..145596486-chr1:145596700..145598584,3	MCF-7	breast:
21	chr1:145729047..145730565-chr1:249120762..249123434,2	K562	blood:
22	chr1:145718891..145720535-chr1:145728640..145730677,2	K562	blood:
23	chr1:145648322..145650875-chr1:145651699..145654007,2	K562	blood:
24	chr1:145715047..145717136-chr1:145726765..145728311,2	MCF-7	breast:
25	chr1:145692084..145693797-chr1:145696185..145698140,2	K562	blood:
26	chr1:145605038..145607837-chr1:145640968..145643237,2	K562	blood:
27	chr1:145409798..145412630-chr1:145600748..145603370,2	K562	blood:
28	chr1:145574006..145576311-chr1:145661003..145663399,2	MCF-7	breast:
29	chr1:145610391..145611105-chr2:160471513..160472428,2	Hela-S3	cervix:
30	chr1:145655953..145658784-chr1:145661305..145662901,2	MCF-7	breast:
31	chr1:145714618..145718397-chr1:145725723..145728489,4	K562	blood:
32	chr1:145688658..145690307-chr1:145692119..145694421,2	MCF-7	breast:
33	chr1:145685572..145688303-chr1:145688807..145690908,2	K562	blood:
34	chr1:145593931..145596918-chr1:145608213..145611079,3	MCF-7	breast:
35	chr1:145726970..145729073-chr1:145743509..145745161,2	MCF-7	breast:
36	chr1:145624613..145626316-chr1:145633915..145636115,2	MCF-7	breast:
37	chr1:145692412..145694910-chr1:145722142..145723800,2	MCF-7	breast:
38	chr1:145632949..145635680-chr1:145637589..145639393,2	MCF-7	breast:
39	chr1:145829205..145830837-chr1:147397586..147399180,2	MCF-7	breast:
40	chr1:145734221..145736612-chr1:145742812..145746749,3	MCF-7	breast:
41	chr1:145632949..145635680-chr1:145637589..145639393,2	MCF-7	breast:
42	chr1:145610507..145611216-chr11:62609117..62609640,2	NB4	blood:
43	chr1:145676524..145679324-chr1:145685255..145687511,3	MCF-7	breast:
44	chr1:145715047..145717136-chr1:145726765..145728311,2	MCF-7	breast:
45	chr1:145676192..145678960-chr1:145682258..145684064,2	MCF-7	breast:
46	chr1:145637128..145640879-chr1:145644770..145647961,3	K562	blood:
47	chr1:145637128..145640879-chr1:145644770..145647961,3	K562	blood:
48	chr1:145683308..145685636-chr1:145686750..145690277,3	MCF-7	breast:
49	chr1:145738198..145741214-chr1:145744127..145748638,5	K562	blood:
50	chr1:145632002..145634804-chr1:145649615..145652028,2	MCF-7	breast:

(count:20 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR89C-2	chr1:145827205-145827242	NR_104217
2	lnc-GPR89C-1	chr1:145952372-145952520	ENSG00000234245
3	lnc-CD160-1	chr1:145695798-145696600	NONHSAT005961
4	lnc-PIAS3-1	chr1:145637696-145638085	NONHSAT005960
5	lnc-GPR89C-1	chr1:145955052-145955241	ENSG00000234245
6	lnc-CD160-1	chr1:145715526-145715639	NONHSAT005961
7	lnc-PDZK1-2	chr1:145727344-145727689	NONHSAT005962
8	lnc-GPR89C-2	chr1:145827205-145827242	ENSG00000235702.1
9	lnc-CD160-1	chr1:145698953-145699090	NONHSAT005961
10	lnc-CD160-1	chr1:145710179-145710284	NONHSAT005961
11	lnc-GPR89C-4	chr1:145960714-145960862	NONHSAT005968
12	lnc-GPR89C-4	chr1:145963300-145963583	NONHSAT005969
13	lnc-GPR89C-2	chr1:145833025-145833118	NR_104217
14	lnc-GPR89C-4	chr1:145964642-145964796	NONHSAT005969
15	lnc-GPR89C-4	chr1:145964642-145964796	NONHSAT005968
16	lnc-GPR89C-2	chr1:145833025-145833118	ENSG00000235702.1
17	lnc-PDZK1-2	chr1:145716324-145716457	NONHSAT005962
18	lnc-GPR89C-4	chr1:145963394-145963583	NONHSAT005968
19	lnc-PIAS3-1	chr1:145636538-145636593	NONHSAT005960
20	lnc-GPR89C-1	chr1:145956299-145956451	ENSG00000234245

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PDZK1	hsa-miR-9-5p	chr1:145763946-145763953
2	PDZK1	hsa-miR-9-5p	chr1:145763927-145763953

Variant related genes	Relation type
CD160	TF binding region
RNF115	TF binding region
PDZK1P1	TF binding region
ENSG00000235702	TF binding region
RNU1-137P	TF binding region
GPR89A	TF binding region
RNVU1-7	TF binding region
ENSG00000229828	TF binding region
PDZK1	TF binding region
GPR89C	TF binding region
POLR3C	TF binding region
ENSG00000234245	TF binding region
CD160	CpG island
RNF115	CpG island
PDZK1P1	CpG island
ENSG00000235702	CpG island
RNU1-137P	CpG island
GPR89A	CpG island
RNVU1-7	CpG island
ENSG00000229828	CpG island
PDZK1	CpG island
GPR89C	CpG island
POLR3C	CpG island
ENSG00000234245	CpG island
ENSG00000235883	chromatin interactions
ENSG00000174827	chromatin interactions
ENSG00000131795	chromatin interactions
ENSG00000211451	chromatin interactions
ENSG00000137309	chromatin interactions
ENSG00000131779	chromatin interactions
ENSG00000117289	chromatin interactions
ENSG00000186364	chromatin interactions
ENSG00000240667	chromatin interactions
ENSG00000175137	chromatin interactions
ENSG00000117262	chromatin interactions
ENSG00000198366	chromatin interactions
ENSG00000121848	chromatin interactions
ENSG00000123636	chromatin interactions
ENSG00000251537	chromatin interactions
ENSG00000224152	chromatin interactions
ENSG00000186141	chromatin interactions
ENSG00000188092	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000266261	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000100311	chromatin interactions
ENSG00000185634	chromatin interactions
ENSG00000196757	chromatin interactions
ENSG00000099860	chromatin interactions
ENSG00000267179	chromatin interactions
ENSG00000214253	chromatin interactions
ENSG00000113407	chromatin interactions
ENSG00000235702	chromatin interactions
ENSG00000123933	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000234222	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000131788	chromatin interactions
ENSG00000255302	chromatin interactions
ENSG00000117281	chromatin interactions

Extended variants
information (count: 6605 )
Associated
traits (count: 175 )

Variant overlapped rSNPs/rCNVs (count:6605 , 50 per page) page: 1 2 3 4 5 6 7 ... 133

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9728311	chr1:145597116-145597117	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113787888	chr1:145597132-145597133	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs138211746	chr1:145597189-145597190	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs587639416	chr1:145597241-145597242	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs79888729	chr1:145597256-145597257	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs371528690	chr1:145597258-145597259	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs113067924	chr1:145597264-145597265	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs587658008	chr1:145597289-145597290	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs187673233	chr1:145597327-145597328	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs192492232	chr1:145597345-145597346	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs184731324	chr1:145597384-145597385	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs369721984	chr1:145597391-145597392	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs142831238	chr1:145597409-145597410	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs9728345	chr1:145597417-145597418	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs113245277	chr1:145597427-145597428	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs587668495	chr1:145597474-145597475	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs199759380	chr1:145597478-145597479	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs9727157	chr1:145597501-145597502	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
19	rs587601641	chr1:145597509-145597510	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs587679501	chr1:145597520-145597521	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs374861364	chr1:145597528-145597529	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs17849852	chr1:145597533-145597534	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs201313099	chr1:145597545-145597546	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs370209043	chr1:145597551-145597552	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs147400335	chr1:145597578-145597579	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs139795664	chr1:145597606-145597607	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs373421203	chr1:145597619-145597620	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs587627103	chr1:145597698-145597699	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs587690563	chr1:145597756-145597757	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs587721907	chr1:145597807-145597808	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs143751581	chr1:145597867-145597868	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs587703157	chr1:145597882-145597883	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs587774018	chr1:145597905-145597906	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs189545828	chr1:145597934-145597935	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs12143555	chr1:145597943-145597944	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs192191390	chr1:145597966-145597967	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs115229279	chr1:145597988-145597989	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs587708772	chr1:145598076-145598077	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs35821648	chr1:145598129-145598130	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs587604134	chr1:145598191-145598192	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs587642461	chr1:145598202-145598203	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs16827080	chr1:145598230-145598231	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs587603396	chr1:145598231-145598232	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs139666181	chr1:145598255-145598256	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs554555809	chr1:145598272-145598273	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs146808671	chr1:145598279-145598280	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs201403543	chr1:145598282-145598283	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs144101553	chr1:145598285-145598286	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs373069888	chr1:145598359-145598360	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs184614926	chr1:145598415-145598416	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:175)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	19197363	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Schizophrenia	23813976	CNVD
Lung adenocarcinoma	21935476	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Schizophrenia	19843651	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	20531469	CNVD
Autism	20858243	CNVD
Autism	22543975	CNVD
Epilepsy	20502679	CNVD
Autism	20841430	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	17142309	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4587 , 50 per page) page: 1 2 3 4 5 6 7 ... 92

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:145589400-145600800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:145589400-145610200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:145590000-145609600	Weak transcription	Right Atrium	heart
4	chr1:145590400-145610000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:145590600-145609200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:145590800-145599200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:145590800-145608800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:145590800-145608800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:145591000-145598800	Strong transcription	GM12878-XiMat	blood
10	chr1:145591000-145606800	Strong transcription	Primary B cells from peripheral blood	blood
11	chr1:145591000-145609000	Strong transcription	A549	lung
12	chr1:145591000-145609400	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:145591200-145598800	Strong transcription	Fetal Kidney	kidney
14	chr1:145591200-145599600	Strong transcription	Primary B cells from cord blood	blood
15	chr1:145591200-145608400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:145591200-145608400	Strong transcription	Hela-S3	cervix
17	chr1:145591200-145608600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:145591200-145609000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:145591200-145609000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:145591200-145609000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:145591200-145609000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:145591200-145609000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:145591200-145609000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:145591200-145609000	Strong transcription	Adipose Nuclei	Adipose
25	chr1:145591200-145609200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:145591200-145609200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:145591200-145609200	Strong transcription	Liver	Liver
28	chr1:145591200-145609200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr1:145591400-145599000	Strong transcription	HepG2	liver
30	chr1:145591400-145603600	Strong transcription	Brain Substantia Nigra	brain
31	chr1:145591400-145606200	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr1:145591400-145608000	Strong transcription	Dnd41	blood
33	chr1:145591400-145608600	Strong transcription	Thymus	Thymus
34	chr1:145591400-145608800	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:145591400-145608800	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr1:145591400-145608800	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:145591400-145608800	Strong transcription	Osteobl	bone
38	chr1:145591400-145609000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:145591400-145609000	Strong transcription	Duodenum Mucosa	Duodenum
40	chr1:145591400-145609000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:145591400-145609200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr1:145591400-145609200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:145591400-145609200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr1:145591400-145609200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:145591400-145609200	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:145591400-145609200	Strong transcription	Fetal Muscle Leg	muscle
47	chr1:145591400-145609200	Strong transcription	Fetal Thymus	thymus
48	chr1:145591400-145609200	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:145591400-145609400	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr1:145591400-145609400	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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