Variant report

Variant	nsv876731
Chromosome Location	chr3:42690285-42711655
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1404)
CpG islands
(count:1832)
Chromatin interactive
region (count:45)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:1404 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:42702550-42702710	K562	blood:	n/a	n/a
2	ATF3	chr3:42697772-42698052	K562	blood:	n/a	n/a
3	ATF3	chr3:42695796-42696042	K562	blood:	n/a	chr3:42695920-42695940
4	BACH1	chr3:42695553-42696606	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr3:42709432-42709481	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr3:42695224-42695254	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr3:42694213-42694491	GM12878	blood:	n/a	n/a
8	BCL3	chr3:42708795-42709624	A549	lung:	n/a	n/a
9	BHLHE40	chr3:42709365-42709554	K562	blood:	n/a	n/a
10	BHLHE40	chr3:42695950-42696065	GM12878	blood:	n/a	chr3:42695985-42696001
11	BHLHE40	chr3:42695243-42695981	K562	blood:	n/a	n/a
12	BHLHE40	chr3:42694094-42694739	K562	blood:	n/a	chr3:42694546-42694562
13	BHLHE40	chr3:42696491-42696563	K562	blood:	n/a	n/a
14	BHLHE40	chr3:42702421-42702756	K562	blood:	n/a	n/a
15	BRCA1	chr3:42696550-42696637	Hela-S3	cervix:	n/a	n/a
16	CBX3	chr3:42693981-42694988	K562	blood:	n/a	n/a
17	CBX3	chr3:42710159-42710441	K562	blood:	n/a	n/a
18	CBX3	chr3:42696210-42697050	K562	blood:	n/a	n/a
19	CCNT2	chr3:42695839-42696649	K562	blood:	n/a	chr3:42696294-42696303
20	CCNT2	chr3:42706777-42706858	K562	blood:	n/a	n/a
21	CCNT2	chr3:42694292-42694693	K562	blood:	n/a	chr3:42694654-42694663
22	CCNT2	chr3:42691553-42691789	K562	blood:	n/a	n/a
23	CEBPB	chr3:42695518-42695771	K562	blood:	n/a	n/a
24	CEBPB	chr3:42710575-42710615	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr3:42695506-42695827	IMR90	lung:	n/a	n/a
26	CEBPB	chr3:42696319-42696513	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr3:42695473-42695842	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr3:42695512-42695719	HepG2	liver:	n/a	n/a
29	CEBPB	chr3:42695637-42695715	A549	lung:	n/a	n/a
30	CEBPD	chr3:42695903-42696199	HepG2	liver:	n/a	n/a
31	CEBPD	chr3:42695350-42695570	HepG2	liver:	n/a	n/a
32	CHD2	chr3:42696227-42696374	HepG2	liver:	n/a	n/a
33	CHD2	chr3:42694218-42694486	K562	blood:	n/a	n/a
34	CHD2	chr3:42695483-42696560	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr3:42694245-42694687	Hela-S3	cervix:	n/a	n/a
36	CHD2	chr3:42695652-42695710	GM12878	blood:	n/a	n/a
37	CREB1	chr3:42695780-42696166	A549	lung:	n/a	n/a
38	CTBP2	chr3:42696182-42698042	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr3:42702540-42702690	BE2_C	brain:	n/a	chr3:42702557-42702570 chr3:42702554-42702567 chr3:42702624-42702634
40	CTCF	chr3:42702520-42702670	GM12870	blood:	n/a	chr3:42702557-42702570 chr3:42702554-42702567 chr3:42702624-42702634
41	CTCF	chr3:42702540-42702690	HL-60	blood:	n/a	chr3:42702557-42702570 chr3:42702554-42702567 chr3:42702624-42702634
42	CTCF	chr3:42696360-42696510	GM12873	blood:	n/a	n/a
43	CTCF	chr3:42696340-42696490	AG04449	skin:	n/a	n/a
44	CTCF	chr3:42702520-42702670	GM12875	blood:	n/a	chr3:42702557-42702570 chr3:42702554-42702567 chr3:42702624-42702634
45	CTCF	chr3:42696360-42696510	AG04450	lung:	n/a	n/a
46	CTCF	chr3:42696380-42696530	HepG2	liver:	n/a	n/a
47	CTCF	chr3:42696260-42696410	RPTEC	kidney:	n/a	chr3:42696311-42696329 chr3:42696313-42696326
48	CTCF	chr3:42696420-42696570	GM12871	blood:	n/a	n/a
49	CTCF	chr3:42702500-42702650	HEK293	kidney:	n/a	chr3:42702557-42702570 chr3:42702554-42702567 chr3:42702624-42702634
50	CTCF	chr3:42702388-42702791	HepG2	liver:	n/a	chr3:42702557-42702570 chr3:42702554-42702567 chr3:42702624-42702634

(count:1832 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:42699215-42699265	GM12892	blood:	n/a
2	chr3:42696574-42696624	HMEC	breast:	n/a
3	chr3:42699215-42699265	GM12892	blood:	n/a
4	chr3:42696574-42696624	HMEC	breast:	n/a
5	chr3:42706106-42706156	H1-hESC	embryonic stem cell:	embryo
6	chr3:42700007-42700057	HCPEpiC	choroid plexus:	n/a
7	chr3:42706066-42706116	AG10803	skin:	n/a
8	chr3:42695035-42695085	PrEC	prostate:	n/a
9	chr3:42708983-42709033	NT2-D1	testis:	n/a
10	chr3:42705925-42705975	HMEC	breast:	n/a
11	chr3:42699933-42699983	HCM	heart:	n/a
12	chr3:42708983-42709033	HRCEpiC	kidney:	n/a
13	chr3:42700108-42700158	AoSMC	blood vessel:	n/a
14	chr3:42696191-42696241	SK-N-MC	brain:	n/a
15	chr3:42701690-42701740	ECC-1	luminal epithelium:	n/a
16	chr3:42705925-42705975	Hepatocyte	liver:	n/a
17	chr3:42696434-42696484	Hela-S3	cervix:	n/a
18	chr3:42696821-42696871	HRE	kidney:	n/a
19	chr3:42700585-42700635	LNCaP	prostate:	n/a
20	chr3:42700203-42700253	H1-hESC	embryonic stem cell:	embryo
21	chr3:42694803-42694853	Jurkat	blood:	n/a
22	chr3:42700678-42700728	HIPEpiC	eye:	n/a
23	chr3:42696191-42696241	HRE	kidney:	n/a
24	chr3:42695852-42695902	A549	lung:	n/a
25	chr3:42700354-42700404	A549	lung:	n/a
26	chr3:42700678-42700728	HCM	heart:	n/a
27	chr3:42694144-42694194	GM12892	blood:	n/a
28	chr3:42708983-42709033	HEK293	kidney:	embryo
29	chr3:42700007-42700057	HRE	kidney:	n/a
30	chr3:42699215-42699265	HCT-116	colon:	n/a
31	chr3:42702502-42702552	GM19239	blood:	n/a
32	chr3:42696574-42696624	H1-hESC	embryonic stem cell:	embryo
33	chr3:42695307-42695357	GM12878	blood:	n/a
34	chr3:42700285-42700335	AG10803	skin:	n/a
35	chr3:42694783-42694833	HIPEpiC	eye:	n/a
36	chr3:42701690-42701740	SAEC	small airway:	n/a
37	chr3:42696434-42696484	HCT-116	colon:	n/a
38	chr3:42695580-42695630	Hepatocyte	liver:	n/a
39	chr3:42700585-42700635	ProgFib	skin:	n/a
40	chr3:42696434-42696484	HRPEpiC	eye:	n/a
41	chr3:42708983-42709033	GM12891	blood:	n/a
42	chr3:42695035-42695085	HCPEpiC	choroid plexus:	n/a
43	chr3:42700678-42700728	Jurkat	blood:	n/a
44	chr3:42700674-42700724	HEEpiC	esophagus:	n/a
45	chr3:42705925-42705975	Hela-S3	cervix:	n/a
46	chr3:42706106-42706156	ECC-1	luminal epithelium:	n/a
47	chr3:42706106-42706156	GM12892	blood:	n/a
48	chr3:42700203-42700253	HPAEpiC	pulmonary alveolar:	n/a
49	chr3:42700354-42700404	LNCaP	prostate:	n/a
50	chr3:42700674-42700724	SK-N-MC	brain:	n/a

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:42702499..42703079-chr3:42785442..42785986,2	MCF-7	breast:
2	chr3:42693048..42698390-chr3:42704198..42708211,5	MCF-7	breast:
3	chr3:42655417..42657513-chr3:42690626..42693228,2	K562	blood:
4	chr3:42693324..42695216-chr3:42700072..42702167,2	MCF-7	breast:
5	chr3:42629929..42632831-chr3:42695818..42698742,2	MCF-7	breast:
6	chr3:42613871..42615893-chr3:42692209..42694692,2	K562	blood:
7	chr3:42690176..42693159-chr3:42693581..42695274,2	MCF-7	breast:
8	chr3:42702115..42702691-chr3:42791094..42791699,3	MCF-7	breast:
9	chr3:42702195..42702950-chr3:42791156..42791913,2	MCF-7	breast:
10	chr3:42631026..42632613-chr3:42695067..42697159,2	MCF-7	breast:
11	chr3:42688509..42691154-chr3:42691239..42693774,3	MCF-7	breast:
12	chr3:42632553..42639930-chr3:42692933..42696882,8	K562	blood:
13	chr3:42688256..42690363-chr3:42691600..42693510,2	MCF-7	breast:
14	chr3:42691450..42694328-chr3:42695841..42698236,2	MCF-7	breast:
15	chr3:42623862..42624421-chr3:42696058..42696857,2	K562	blood:
16	chr3:42695847..42698650-chr3:42704581..42706442,2	K562	blood:
17	chr3:42696300..42698185-chr3:42764015..42766530,4	K562	blood:
18	chr3:42693104..42694831-chr3:42707360..42709210,2	MCF-7	breast:
19	chr3:42709626..42711413-chr3:42723979..42726333,2	MCF-7	breast:
20	chr3:42696300..42697951-chr3:42764752..42766530,2	K562	blood:
21	chr3:42700054..42702957-chr3:42774515..42776215,2	K562	blood:
22	chr3:42709892..42712819-chr3:42720956..42722767,2	K562	blood:
23	chr3:42703465..42708475-chr3:42709684..42714527,5	MCF-7	breast:
24	chr17:59434029..59435903-chr3:42707935..42710633,2	MCF-7	breast:
25	chr3:42610241..42612641-chr3:42709533..42711568,2	K562	blood:
26	chr3:42707323..42709990-chr3:42711723..42713357,2	K562	blood:
27	chr3:42695894..42698650-chr3:42786338..42788734,2	K562	blood:
28	chr3:42688256..42690363-chr3:42691600..42693510,2	MCF-7	breast:
29	chr3:42640361..42643591-chr3:42693270..42696162,5	K562	blood:
30	chr3:42707503..42709270-chr3:42712561..42714862,2	MCF-7	breast:
31	chr3:42659807..42662376-chr3:42694804..42697042,2	MCF-7	breast:
32	chr3:42695218..42698513-chr3:42700428..42704457,4	MCF-7	breast:
33	chr3:42703465..42708475-chr3:42709684..42714527,5	MCF-7	breast:
34	chr3:42702080..42703037-chr3:42791145..42791706,3	K562	blood:
35	chr3:42709094..42711922-chr3:42723426..42725135,3	K562	blood:
36	chr3:42693324..42695216-chr3:42700072..42702167,2	MCF-7	breast:
37	chr3:42688509..42691154-chr3:42691239..42693774,3	MCF-7	breast:
38	chr3:42711098..42713056-chr3:42742898..42745395,2	MCF-7	breast:
39	chr3:42704049..42706475-chr3:42719035..42720644,2	K562	blood:
40	chr3:42693104..42694831-chr3:42707360..42709210,2	MCF-7	breast:
41	chr3:42702105..42703087-chr3:42796854..42797465,3	MCF-7	breast:
42	chr3:42671852..42674989-chr3:42686737..42692314,6	K562	blood:
43	chr3:42639395..42643636-chr3:42699754..42702498,4	K562	blood:
44	chr3:42640678..42643591-chr3:42694568..42696079,2	K562	blood:
45	chr3:42620456..42625490-chr3:42691753..42697487,7	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEC22C-2	chr3:42695486-42695880	ENSG00000230084.1
2	lnc-SEC22C-2	chr3:42695486-42695818	ENSG00000230084.1
3	lnc-SEC22C-2	chr3:42695486-42695880	ENSG00000230084.1

No data

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	ZBTB47	hsa-miR-106a-5p	chr3:42707615-42707637
2	ZBTB47	hsa-miR-106a-5p	chr3:42707630-42707637
3	ZBTB47	hsa-miR-21-5p	chr3:42707391-42707398
4	ZBTB47	hsa-miR-21-5p	chr3:42707377-42707398

Variant related genes	Relation type
ENSG00000230084	TF binding region
ZBTB47	TF binding region
ENSG00000230084	CpG island
ZBTB47	CpG island
ENSG00000114853	chromatin interactions
ENSG00000244607	chromatin interactions
ENSG00000010282	chromatin interactions
ENSG00000230970	chromatin interactions
ENSG00000230084	chromatin interactions
ENSG00000114857	chromatin interactions
ENSG00000008324	chromatin interactions
ENSG00000093183	chromatin interactions

Extended variants
information (count: 732 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs339729	chr3:42690285-42690286	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560212295	chr3:42690326-42690327	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs532073381	chr3:42690331-42690332	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs552159883	chr3:42690346-42690347	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs568467225	chr3:42690365-42690366	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs188470656	chr3:42690366-42690367	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs370681101	chr3:42690428-42690429	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs548070390	chr3:42690440-42690441	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs567949784	chr3:42690477-42690478	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs533969711	chr3:42690481-42690482	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs553658511	chr3:42690539-42690540	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs566971548	chr3:42690568-42690569	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs10154957	chr3:42690580-42690581	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs79730198	chr3:42690583-42690584	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs375185098	chr3:42690597-42690598	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs576675218	chr3:42690765-42690766	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs368553260	chr3:42690788-42690789	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs575708279	chr3:42690822-42690823	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs138147370	chr3:42690831-42690832	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs142631449	chr3:42690832-42690833	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs35168751	chr3:42690856-42690857	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs575002277	chr3:42690896-42690897	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs540835012	chr3:42690900-42690901	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs200729355	chr3:42690907-42690908	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs192012026	chr3:42690971-42690972	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs138175655	chr3:42690972-42690973	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs530234267	chr3:42691022-42691023	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs545490473	chr3:42691044-42691045	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs183330415	chr3:42691048-42691049	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs148515272	chr3:42691076-42691077	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs376915732	chr3:42691093-42691094	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs552106855	chr3:42691150-42691151	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs368765099	chr3:42691151-42691152	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs548107784	chr3:42691257-42691258	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs141837962	chr3:42691357-42691358	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs527557356	chr3:42691360-42691361	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs547580153	chr3:42691378-42691379	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs570508614	chr3:42691484-42691485	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs558461109	chr3:42691538-42691539	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs577760130	chr3:42691567-42691568	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs377136167	chr3:42691571-42691572	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs569300783	chr3:42691598-42691599	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs528392125	chr3:42691628-42691629	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs369653443	chr3:42691677-42691678	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs150651418	chr3:42691741-42691742	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs548039279	chr3:42691782-42691783	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs117436238	chr3:42691798-42691799	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs373280981	chr3:42691839-42691840	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs545527241	chr3:42691846-42691847	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs562223623	chr3:42691911-42691912	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1342 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42651200-42693000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:42658200-42693000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr3:42658400-42691400	Strong transcription	Dnd41	blood
4	chr3:42668400-42692800	Strong transcription	Fetal Muscle Trunk	muscle
5	chr3:42669000-42690600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:42669200-42691800	Strong transcription	Fetal Intestine Large	intestine
7	chr3:42669200-42692200	Strong transcription	Liver	Liver
8	chr3:42669400-42690600	Strong transcription	K562	blood
9	chr3:42669400-42691600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:42669400-42692200	Strong transcription	Fetal Muscle Leg	muscle
11	chr3:42669600-42691000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:42671000-42690800	Strong transcription	Placenta	Placenta
13	chr3:42671200-42690800	Strong transcription	NHDF-Ad	bronchial
14	chr3:42671200-42691400	Strong transcription	HSMM	muscle
15	chr3:42671200-42691600	Strong transcription	NH-A	brain
16	chr3:42671400-42690600	Strong transcription	Fetal Lung	lung
17	chr3:42671400-42692200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:42671400-42692200	Strong transcription	Adipose Nuclei	Adipose
19	chr3:42672000-42690600	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr3:42672000-42691800	Strong transcription	Stomach Smooth Muscle	stomach
21	chr3:42672600-42692200	Strong transcription	Fetal Brain Female	brain
22	chr3:42673200-42692600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:42673600-42690400	Strong transcription	NHLF	lung
24	chr3:42674800-42692200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:42677000-42692800	Strong transcription	Fetal Stomach	stomach
26	chr3:42677600-42692600	Strong transcription	Primary hematopoietic stem cells	blood
27	chr3:42680200-42690600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr3:42680600-42692400	Strong transcription	Fetal Intestine Small	intestine
29	chr3:42680800-42692200	Weak transcription	Right Atrium	heart
30	chr3:42681000-42690600	Strong transcription	Duodenum Mucosa	Duodenum
31	chr3:42681000-42690600	Strong transcription	GM12878-XiMat	blood
32	chr3:42681200-42691000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr3:42681400-42691400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr3:42682600-42690800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr3:42682800-42690600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr3:42682800-42690600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:42682800-42692200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:42683000-42690400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr3:42683200-42691000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:42683200-42692200	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr3:42683600-42690400	Strong transcription	HUVEC	blood vessel
42	chr3:42683800-42690600	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr3:42683800-42691000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr3:42683800-42691000	Strong transcription	HMEC	breast
45	chr3:42685000-42693600	Weak transcription	Stomach Mucosa	stomach
46	chr3:42686400-42692200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr3:42686400-42692600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:42686400-42695000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr3:42686600-42693800	Weak transcription	Colonic Mucosa	Colon
50	chr3:42686600-42694200	Weak transcription	Fetal Brain Male	brain

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