Variant report

Variant	esv1801396
Chromosome Location	chr1:78468094-78492221
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:661)
CpG islands
(count:245)
Chromatin interactive
region (count:78)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:13)

(count:661 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:78467855-78472242	K562	blood:	n/a	n/a
2	ARID3A	chr1:78472234-78472544	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:78469802-78471079	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:78471367-78471839	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:78473936-78474313	K562	blood:	n/a	n/a
6	ATF1	chr1:78469708-78471089	K562	blood:	n/a	n/a
7	ATF2	chr1:78469908-78470689	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr1:78469512-78470821	GM12878	blood:	n/a	n/a
9	ATF2	chr1:78469560-78471024	GM12878	blood:	n/a	n/a
10	ATF2	chr1:78469792-78470647	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr1:78469637-78470729	K562	blood:	n/a	n/a
12	BACH1	chr1:78469050-78469353	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr1:78468895-78470495	K562	blood:	n/a	n/a
14	BATF	chr1:78470042-78470244	GM12878	blood:	n/a	n/a
15	BCL11A	chr1:78469689-78470288	GM12878	blood:	n/a	n/a
16	BCL11A	chr1:78470005-78470218	GM12878	blood:	n/a	n/a
17	BCL3	chr1:78469742-78470355	GM12878	blood:	n/a	n/a
18	BCL3	chr1:78469702-78470656	A549	lung:	n/a	n/a
19	BCL3	chr1:78469715-78470309	K562	blood:	n/a	n/a
20	BCL3	chr1:78469490-78470767	K562	blood:	n/a	n/a
21	BCL3	chr1:78469919-78470264	GM12878	blood:	n/a	n/a
22	BCLAF1	chr1:78469436-78471739	K562	blood:	n/a	chr1:78471674-78471683
23	BCLAF1	chr1:78469182-78470943	K562	blood:	n/a	n/a
24	BCLAF1	chr1:78468727-78469257	K562	blood:	n/a	n/a
25	BCLAF1	chr1:78469521-78470917	GM12878	blood:	n/a	n/a
26	BCLAF1	chr1:78480469-78481037	K562	blood:	n/a	n/a
27	BCLAF1	chr1:78469639-78470760	GM12878	blood:	n/a	n/a
28	BHLHE40	chr1:78469660-78470798	K562	blood:	n/a	chr1:78469853-78469869
29	BHLHE40	chr1:78469710-78470796	GM12878	blood:	n/a	chr1:78469853-78469869
30	BRCA1	chr1:78470029-78470297	H1-hESC	embryonic stem cell:	n/a	n/a
31	BRCA1	chr1:78469666-78470786	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr1:78471344-78471912	Hela-S3	cervix:	n/a	n/a
33	CBX3	chr1:78469638-78470751	K562	blood:	n/a	n/a
34	CBX3	chr1:78469651-78470722	K562	blood:	n/a	n/a
35	CBX3	chr1:78469700-78470848	HCT-116	colon:	n/a	n/a
36	CBX3	chr1:78478618-78479102	K562	blood:	n/a	n/a
37	CCNT2	chr1:78469741-78470630	K562	blood:	n/a	n/a
38	CCNT2	chr1:78482739-78482813	K562	blood:	n/a	n/a
39	CEBPB	chr1:78471402-78471812	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr1:78473945-78474259	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr1:78475002-78475394	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr1:78475795-78475835	HepG2	liver:	n/a	n/a
43	CEBPB	chr1:78469627-78470755	GM12878	blood:	n/a	n/a
44	CEBPB	chr1:78469645-78471008	HCT-116	colon:	n/a	n/a
45	CEBPB	chr1:78469597-78470890	K562	blood:	n/a	n/a
46	CEBPB	chr1:78472386-78472812	K562	blood:	n/a	chr1:78472787-78472796 chr1:78472524-78472535 chr1:78472516-78472527
47	CEBPB	chr1:78478334-78478579	K562	blood:	n/a	n/a
48	CEBPB	chr1:78470105-78470683	A549	lung:	n/a	n/a
49	CEBPB	chr1:78473725-78474220	K562	blood:	n/a	n/a
50	CEBPB	chr1:78470247-78470753	A549	lung:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:78470640-78470690	AG04450	lung:	fetal
2	chr1:78470640-78470690	AG04450	lung:	fetal
3	chr1:78470506-78470556	LNCaP	prostate:	n/a
4	chr1:78470449-78470499	HEK293	kidney:	embryo
5	chr1:78470640-78470690	HIPEpiC	eye:	n/a
6	chr1:78470640-78470690	AG09309	skin:	n/a
7	chr1:78470506-78470556	AG09319	gingival:	n/a
8	chr1:78478169-78478219	BE2_C	brain:	n/a
9	chr1:78470640-78470690	MCF-7	breast:	n/a
10	chr1:78470640-78470690	NB4	blood:	n/a
11	chr1:78478169-78478219	AG09309	skin:	n/a
12	chr1:78470449-78470499	HAEpiC	amniotic membrane:	n/a
13	chr1:78470640-78470690	HCPEpiC	choroid plexus:	n/a
14	chr1:78478169-78478219	NH-A	brain:	n/a
15	chr1:78470506-78470556	SKMC	muscle:	n/a
16	chr1:78470640-78470690	IMR90	lung:	fetal
17	chr1:78470640-78470690	HRCEpiC	kidney:	n/a
18	chr1:78478169-78478219	U87	brain:	n/a
19	chr1:78478169-78478219	SK-N-MC	brain:	n/a
20	chr1:78470506-78470556	HRPEpiC	eye:	n/a
21	chr1:78470449-78470499	HCM	heart:	n/a
22	chr1:78470640-78470690	NT2-D1	testis:	n/a
23	chr1:78478169-78478219	HPAEpiC	pulmonary alveolar:	n/a
24	chr1:78470640-78470690	RPTEC	kidney:	n/a
25	chr1:78470449-78470499	HRCEpiC	kidney:	n/a
26	chr1:78478169-78478219	NB4	blood:	n/a
27	chr1:78470506-78470556	H1-hESC	embryonic stem cell:	embryo
28	chr1:78470449-78470499	U87	brain:	n/a
29	chr1:78478169-78478219	PFSK-1	brain:	n/a
30	chr1:78478169-78478219	HMEC	breast:	n/a
31	chr1:78470640-78470690	Caco-2	colon:	n/a
32	chr1:78478169-78478219	HIPEpiC	eye:	n/a
33	chr1:78470449-78470499	NHBE	bronchial:	n/a
34	chr1:78470449-78470499	Hela-S3	cervix:	n/a
35	chr1:78470640-78470690	U87	brain:	n/a
36	chr1:78478169-78478219	HEK293	kidney:	embryo
37	chr1:78470506-78470556	BE2_C	brain:	n/a
38	chr1:78470640-78470690	GM12878	blood:	n/a
39	chr1:78470506-78470556	HRE	kidney:	n/a
40	chr1:78478169-78478219	Hepatocyte	liver:	n/a
41	chr1:78478169-78478219	SK-N-SH_RA	brain:	n/a
42	chr1:78470449-78470499	HL-60	blood:	n/a
43	chr1:78470640-78470690	AG09319	gingival:	n/a
44	chr1:78478169-78478219	Hela-S3	cervix:	n/a
45	chr1:78470640-78470690	ovcar-3	ovarian:	n/a
46	chr1:78470449-78470499	AG09309	skin:	n/a
47	chr1:78470449-78470499	GM12878	blood:	n/a
48	chr1:78470506-78470556	ECC-1	luminal epithelium:	n/a
49	chr1:78470640-78470690	PFSK-1	brain:	n/a
50	chr1:78470449-78470499	T-47D	breast:	n/a

(count:78 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:78467305..78472459-chr1:78554681..78560615,12	K562	blood:
2	chr1:78474587..78476658-chr1:78580755..78582747,2	K562	blood:
3	chr1:78468665..78470165-chr1:80026349..80029039,2	K562	blood:
4	chr1:78490302..78495506-chr1:78500007..78505511,6	K562	blood:
5	chr1:78469979..78470530-chr17:76311568..76312104,2	Hela-S3	cervix:
6	chr1:78472904..78475417-chr1:78568787..78572240,3	K562	blood:
7	chr1:78469721..78470513-chr12:49524722..49525238,2	NB4	blood:
8	chr1:78487924..78490767-chr1:78494264..78496210,2	K562	blood:
9	chr1:78469578..78470998-chr12:52444680..52445780,5	Hela-S3	cervix:
10	chr1:78482811..78485381-chr1:78578750..78581100,2	K562	blood:
11	chr1:78354412..78357543-chr1:78468778..78471529,4	K562	blood:
12	chr1:77813619..77816574-chr1:78468319..78470340,2	K562	blood:
13	chr1:78469798..78470602-chr6:16128942..16129625,2	Hela-S3	cervix:
14	chr1:78468395..78470223-chr1:78565706..78567712,2	K562	blood:
15	chr1:78469772..78470679-chr6:26271386..26272299,2	Hela-S3	cervix:
16	chr1:78245266..78247421-chr1:78469203..78472150,2	K562	blood:
17	chr1:78469893..78470576-chr9:74383453..74384115,2	Hela-S3	cervix:
18	chr1:78475214..78476782-chr1:78520610..78522238,2	K562	blood:
19	chr1:78469306..78470017-chr6:2841690..2842326,2	Hela-S3	cervix:
20	chr1:36273666..36274525-chr1:78469915..78470725,2	Hela-S3	cervix:
21	chr1:78222274..78226935-chr1:78467368..78471641,7	K562	blood:
22	chr1:78441900..78447727-chr1:78466477..78473207,15	MCF-7	breast:
23	chr1:78469894..78470597-chr6:111302819..111303506,2	Hela-S3	cervix:
24	chr1:78444790..78445968-chr1:78469428..78470562,4	Hela-S3	cervix:
25	chr1:78470170..78473101-chr7:44834709..44837189,2	K562	blood:
26	chr1:76251016..76253217-chr1:78469296..78471512,3	K562	blood:
27	chr1:76190098..76192405-chr1:78472869..78474915,2	K562	blood:
28	chr1:78469665..78470320-chr22:43410838..43411749,2	Hela-S3	cervix:
29	chr1:78215243..78217892-chr1:78468395..78470149,2	K562	blood:
30	chr1:78469866..78470559-chr9:6757407..6758029,2	NB4	blood:
31	chr1:78468722..78470321-chr1:110881687..110883282,2	K562	blood:
32	chr1:78470006..78470576-chrX:71400976..71401889,2	Hela-S3	cervix:
33	chr1:78469677..78470230-chr4:99850265..99850940,3	Hela-S3	cervix:
34	chr1:78477115..78479599-chr1:78501919..78504356,3	K562	blood:
35	chr1:45195514..45197967-chr1:78468300..78470449,2	K562	blood:
36	chr1:78469769..78470335-chr12:123848922..123849686,2	Hela-S3	cervix:
37	chr1:78148970..78151388-chr1:78468544..78472172,4	K562	blood:
38	chr1:78469750..78470464-chr14:75745248..75745748,2	Hela-S3	cervix:
39	chr1:78391278..78394159-chr1:78467798..78470228,4	K562	blood:
40	chr1:78245914..78248830-chr1:78466317..78468664,2	K562	blood:
41	chr1:78472783..78474858-chr1:78555582..78557141,2	K562	blood:
42	chr1:78466521..78469448-chr1:78786020..78788848,2	K562	blood:
43	chr1:78466099..78472038-chr1:78511575..78517585,8	K562	blood:
44	chr1:78468129..78475881-chr1:78555411..78565499,18	K562	blood:
45	chr1:78469483..78470465-chr1:159894832..159895503,2	Hela-S3	cervix:
46	chr1:78466262..78468828-chr1:85227463..85229470,2	K562	blood:
47	chr1:78469598..78470450-chr15:66648596..66649216,2	Hela-S3	cervix:
48	chr1:78469679..78470448-chr11:62608476..62609646,4	Hela-S3	cervix:
49	chr1:78469181..78471632-chr1:85154975..85157700,2	K562	blood:
50	chr1:78469701..78470650-chr4:10118290..10119096,2	NB4	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FUBP1-3	chr1:78470030-78470238	ENSG00000273338.1
2	lnc-DNAJB4-2	chr1:78488456-78488690	l_75_chr1:78467972-78488690_lung

No data

(count:13 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	DNAJB4	hsa-miR-148a-3p	chr1:78481949-78481971
2	DNAJB4	hsa-miR-16-5p	chr1:78482867-78482887
3	DNAJB4	hsa-miR-103a-3p	chr1:78482381-78482403
4	DNAJB4	hsa-miR-16-5p	chr1:78482880-78482886
5	DNAJB4	hsa-miR-103a-3p	chr1:78482864-78482886
6	DNAJB4	hsa-miR-148b-3p	chr1:78482422-78482444
7	DNAJB4	hsa-miR-148b-3p	chr1:78481965-78481971
8	DNAJB4	hsa-miR-215-5p	chr1:78482650-78482671
9	DNAJB4	hsa-miR-148b-3p	chr1:78481949-78481971
10	DNAJB4	hsa-miR-16-5p	chr1:78482383-78482404
11	DNAJB4	hsa-miR-148a-3p	chr1:78481965-78481971
12	DNAJB4	hsa-miR-26b-5p	chr1:78482725-78482743
13	DNAJB4	hsa-miR-192-5p	chr1:78482650-78482671

Variant related genes	Relation type
DNAJB4	TF binding region
ENSG00000273338	TF binding region
DNAJB4	CpG island
ENSG00000273338	CpG island
ENSG00000222849	chromatin interactions
ENSG00000206620	chromatin interactions
ENSG00000200169	chromatin interactions
ENSG00000134698	chromatin interactions
ENSG00000053501	chromatin interactions
ENSG00000169764	chromatin interactions
ENSG00000114383	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000102309	chromatin interactions
ENSG00000251958	chromatin interactions
ENSG00000100266	chromatin interactions
ENSG00000071127	chromatin interactions
ENSG00000197498	chromatin interactions
ENSG00000089335	chromatin interactions
ENSG00000007944	chromatin interactions
ENSG00000139697	chromatin interactions
ENSG00000151247	chromatin interactions
ENSG00000269968	chromatin interactions
ENSG00000107077	chromatin interactions
ENSG00000256092	chromatin interactions
ENSG00000202263	chromatin interactions
ENSG00000257354	chromatin interactions
ENSG00000162613	chromatin interactions
ENSG00000021355	chromatin interactions
ENSG00000196262	chromatin interactions
ENSG00000233099	chromatin interactions
ENSG00000150995	chromatin interactions
ENSG00000180488	chromatin interactions
ENSG00000117155	chromatin interactions
ENSG00000162614	chromatin interactions
ENSG00000256383	chromatin interactions
ENSG00000256018	chromatin interactions
ENSG00000235927	chromatin interactions
ENSG00000137960	chromatin interactions
ENSG00000139793	chromatin interactions
ENSG00000267737	chromatin interactions
ENSG00000075131	chromatin interactions
ENSG00000162775	chromatin interactions
ENSG00000137955	chromatin interactions
ENSG00000162616	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000142892	chromatin interactions
ENSG00000036549	chromatin interactions
ENSG00000142864	chromatin interactions
ENSG00000231249	chromatin interactions
ENSG00000267277	chromatin interactions
ENSG00000258017	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000077254	chromatin interactions
ENSG00000215417	chromatin interactions
ENSG00000227963	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000123416	chromatin interactions
ENSG00000117054	chromatin interactions
ENSG00000158710	chromatin interactions
ENSG00000213560	chromatin interactions
ENSG00000135048	chromatin interactions

Extended variants
information (count: 789 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:789 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4245659	chr1:78468094-78468095	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145972861	chr1:78468103-78468104	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs12086102	chr1:78468164-78468165	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs74788907	chr1:78468272-78468273	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs537444936	chr1:78468289-78468290	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs547542994	chr1:78468296-78468297	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs565675427	chr1:78468372-78468373	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs539479529	chr1:78468412-78468413	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs557793917	chr1:78468442-78468443	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs551610814	chr1:78468504-78468505	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs527847902	chr1:78468505-78468506	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs536965332	chr1:78468596-78468597	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs369959737	chr1:78468625-78468626	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs373813118	chr1:78468673-78468674	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs571440099	chr1:78468713-78468714	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs139904898	chr1:78468714-78468715	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs77469486	chr1:78468748-78468749	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
18	rs573785001	chr1:78468777-78468778	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
19	rs534141212	chr1:78468807-78468808	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
20	rs190468168	chr1:78468874-78468875	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
21	rs560256234	chr1:78468902-78468903	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
22	rs572218437	chr1:78468913-78468914	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
23	rs376198842	chr1:78468973-78468974	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
24	rs545745969	chr1:78468980-78468981	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
25	rs182915337	chr1:78469022-78469023	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
26	rs145341974	chr1:78469027-78469028	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
27	rs531997642	chr1:78469056-78469057	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
28	rs142887865	chr1:78469062-78469063	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
29	rs115045612	chr1:78469118-78469119	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
30	rs529558034	chr1:78469183-78469184	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
31	rs547504328	chr1:78469194-78469195	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
32	rs11162404	chr1:78469197-78469198	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs370135218	chr1:78469242-78469243	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
34	rs60670711	chr1:78469341-78469342	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
35	rs539540252	chr1:78469359-78469360	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
36	rs551327409	chr1:78469429-78469430	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
37	rs569562680	chr1:78469443-78469444	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
38	rs537332840	chr1:78469482-78469483	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
39	rs573531250	chr1:78469602-78469603	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
40	rs187550320	chr1:78469603-78469604	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
41	rs555425261	chr1:78469632-78469633	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
42	rs573772202	chr1:78469656-78469657	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
43	rs11162405	chr1:78469660-78469661	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	28 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs552752931	chr1:78469677-78469678	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
45	rs556244524	chr1:78469681-78469682	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
46	rs572181293	chr1:78469691-78469692	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
47	rs545908139	chr1:78469692-78469693	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
48	rs575990148	chr1:78469742-78469743	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
49	rs147438018	chr1:78469838-78469839	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	46 gene(s)	Overlapped CNVs	n/a
50	rs547893017	chr1:78469897-78469898	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	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
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:933 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78446200-78469600	Weak transcription	Thymus	Thymus
2	chr1:78446400-78469800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr1:78446400-78470200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:78446600-78468400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:78446600-78468800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:78446600-78468800	Weak transcription	Adipose Nuclei	Adipose
7	chr1:78446600-78468800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr1:78446600-78469000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:78446600-78469000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:78446600-78469000	Weak transcription	Fetal Kidney	kidney
11	chr1:78446600-78469600	Weak transcription	Aorta	Aorta
12	chr1:78446600-78469800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:78446600-78470200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:78446600-78470400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:78447600-78469800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:78447600-78470200	Weak transcription	Fetal Brain Male	brain
17	chr1:78447800-78469600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:78448000-78468800	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:78448800-78488200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:78450200-78469600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:78450200-78469600	Weak transcription	Fetal Intestine Large	intestine
22	chr1:78451000-78468400	Weak transcription	Brain Anterior Caudate	brain
23	chr1:78451800-78468400	Weak transcription	HSMMtube	muscle
24	chr1:78452400-78468800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr1:78452400-78468800	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:78452800-78468400	Weak transcription	K562	blood
27	chr1:78452800-78468800	Weak transcription	NH-A	brain
28	chr1:78452800-78470400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:78452800-78478800	Weak transcription	Spleen	Spleen
30	chr1:78453000-78469600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:78454200-78468400	Weak transcription	Right Atrium	heart
32	chr1:78454200-78468800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:78454200-78469200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:78454200-78469800	Weak transcription	Left Ventricle	heart
35	chr1:78454200-78469800	Weak transcription	Psoas Muscle	Psoas
36	chr1:78454200-78485600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:78454400-78469800	Weak transcription	Right Ventricle	heart
38	chr1:78455600-78469200	Weak transcription	Primary B cells from cord blood	blood
39	chr1:78455800-78468800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:78456000-78468600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr1:78456000-78469200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr1:78456200-78470400	Weak transcription	Esophagus	oesophagus
43	chr1:78456600-78468800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:78457400-78469000	Weak transcription	GM12878-XiMat	blood
45	chr1:78457400-78469800	Weak transcription	Ovary	ovary
46	chr1:78457400-78470400	Weak transcription	Pancreas	Pancrea
47	chr1:78457800-78469000	Weak transcription	HMEC	breast
48	chr1:78459000-78468400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:78459400-78469800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:78459600-78468400	Weak transcription	Osteobl	bone

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