Variant report

Variant	nsv558836
Chromosome Location	chr12:50290023-50316439
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:359)
CpG islands
(count:854)
Chromatin interactive
region (count:31)
LncRNA
region (count:31)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr12:50303605-50303834	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr12:50310272-50310279	K562	blood:	n/a	n/a
3	BHLHE40	chr12:50303727-50303965	K562	blood:	n/a	n/a
4	BHLHE40	chr12:50308275-50308475	K562	blood:	n/a	n/a
5	BHLHE40	chr12:50310776-50310802	K562	blood:	n/a	n/a
6	BRCA1	chr12:50308219-50308595	Hela-S3	cervix:	n/a	n/a
7	CBX3	chr12:50303693-50304041	K562	blood:	n/a	n/a
8	CBX3	chr12:50293290-50293580	K562	blood:	n/a	n/a
9	CEBPB	chr12:50314295-50314606	Hela-S3	cervix:	n/a	chr12:50314444-50314455
10	CEBPB	chr12:50307936-50308857	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr12:50308077-50308853	K562	blood:	n/a	n/a
12	CEBPB	chr12:50303627-50304049	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr12:50314137-50314517	IMR90	lung:	n/a	chr12:50314444-50314455
14	CEBPB	chr12:50313731-50313903	IMR90	lung:	n/a	n/a
15	CEBPB	chr12:50314313-50314607	HepG2	liver:	n/a	chr12:50314444-50314455
16	CEBPB	chr12:50298015-50298295	H1-hESC	embryonic stem cell:	n/a	chr12:50298117-50298128 chr12:50298117-50298130
17	CEBPB	chr12:50298062-50298235	HepG2	liver:	n/a	chr12:50298117-50298128 chr12:50298117-50298130
18	CEBPB	chr12:50297929-50298298	IMR90	lung:	n/a	chr12:50298117-50298128 chr12:50298117-50298130
19	CEBPB	chr12:50314300-50314507	A549	lung:	n/a	chr12:50314444-50314455
20	CHD2	chr12:50308134-50308580	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr12:50303591-50303951	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr12:50314440-50314590	HCFaa	heart:	n/a	n/a
23	CTCF	chr12:50296260-50296410	K562	blood:	n/a	n/a
24	CTCF	chr12:50296278-50296480	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr12:50296320-50296470	GM12869	blood:	n/a	n/a
26	CTCF	chr12:50309563-50309606	GM13977	blood:	n/a	n/a
27	CTCF	chr12:50296260-50296410	GM12865	blood:	n/a	n/a
28	CTCF	chr12:50297620-50297770	AG04449	skin:	n/a	n/a
29	CTCF	chr12:50314460-50314610	HepG2	liver:	n/a	n/a
30	CTCF	chr12:50314440-50314590	HepG2	liver:	n/a	n/a
31	CTCF	chr12:50314395-50314630	HepG2	liver:	n/a	n/a
32	CTCF	chr12:50314465-50314608	K562	blood:	n/a	n/a
33	CTCF	chr12:50296240-50296390	GM12873	blood:	n/a	n/a
34	CTCF	chr12:50296260-50296410	AG04449	skin:	n/a	n/a
35	CTCF	chr12:50296300-50296450	GM12864	blood:	n/a	n/a
36	CTCF	chr12:50296320-50296470	GM12872	blood:	n/a	n/a
37	CTCF	chr12:50296300-50296450	GM12865	blood:	n/a	n/a
38	CTCF	chr12:50296355-50296393	MCF-7	breast:	n/a	n/a
39	CTCF	chr12:50314480-50314630	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr12:50296260-50296410	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr12:50296280-50296430	Caco-2	colon:	n/a	n/a
42	CTCF	chr12:50296280-50296430	GM12871	blood:	n/a	n/a
43	CTCF	chr12:50296300-50296450	BE2_C	brain:	n/a	n/a
44	CTCF	chr12:50314161-50314193	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr12:50296176-50296431	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr12:50314380-50314530	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr12:50314480-50314630	HCM	heart:	n/a	n/a
48	CTCF	chr12:50296320-50296470	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr12:50301651-50301738	GM10248	blood:	n/a	n/a
50	CTCF	chr12:50296280-50296430	HEK293	kidney:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:50297588-50297638	NB4	blood:	n/a
2	chr12:50300243-50300293	AG04449	skin:	fetal
3	chr12:50297777-50297827	HCM	heart:	n/a
4	chr12:50293815-50293865	BJ	skin:	n/a
5	chr12:50297945-50297995	GM06990	blood:	n/a
6	chr12:50297777-50297827	Hepatocyte	liver:	n/a
7	chr12:50297477-50297527	H1-hESC	embryonic stem cell:	embryo
8	chr12:50297477-50297527	MCF10A-Er-Src	breast:	n/a
9	chr12:50306115-50306165	K562	blood:	n/a
10	chr12:50297588-50297638	RPTEC	kidney:	n/a
11	chr12:50306115-50306165	T-47D	breast:	n/a
12	chr12:50297945-50297995	AG09319	gingival:	n/a
13	chr12:50297945-50297995	AoSMC	blood vessel:	n/a
14	chr12:50297581-50297631	SKMC	muscle:	n/a
15	chr12:50298731-50298781	HUVEC	blood vessel:	n/a
16	chr12:50298731-50298781	HRCEpiC	kidney:	n/a
17	chr12:50303785-50303835	HCF	heart:	n/a
18	chr12:50293815-50293865	HMEC	breast:	n/a
19	chr12:50297793-50297843	RPTEC	kidney:	n/a
20	chr12:50298731-50298781	HNPCEpiC	eye:	n/a
21	chr12:50298731-50298781	PrEC	prostate:	n/a
22	chr12:50297581-50297631	NB4	blood:	n/a
23	chr12:50297588-50297638	SAEC	small airway:	n/a
24	chr12:50297945-50297995	GM12878	blood:	n/a
25	chr12:50297777-50297827	PANC-1	pancreas:	n/a
26	chr12:50306115-50306165	HEK293	kidney:	embryo
27	chr12:50297477-50297527	NHDF-neo	bronchial:	n/a
28	chr12:50293815-50293865	HEK293	kidney:	embryo
29	chr12:50303785-50303835	ECC-1	luminal epithelium:	n/a
30	chr12:50297936-50297986	HIPEpiC	eye:	n/a
31	chr12:50297477-50297527	PANC-1	pancreas:	n/a
32	chr12:50297945-50297995	GM19239	blood:	n/a
33	chr12:50297793-50297843	ovcar-3	ovarian:	n/a
34	chr12:50300243-50300293	RPTEC	kidney:	n/a
35	chr12:50306115-50306165	AG04450	lung:	fetal
36	chr12:50306115-50306165	GM06990	blood:	n/a
37	chr12:50306115-50306165	CMK	blood:	n/a
38	chr12:50297945-50297995	HL-60	blood:	n/a
39	chr12:50298731-50298781	GM06990	blood:	n/a
40	chr12:50306547-50306597	AG04449	skin:	fetal
41	chr12:50306547-50306597	MCF10A-Er-Src	breast:	n/a
42	chr12:50306547-50306597	SK-N-SH_RA	brain:	n/a
43	chr12:50306115-50306165	HNPCEpiC	eye:	n/a
44	chr12:50297793-50297843	HEK293	kidney:	embryo
45	chr12:50297588-50297638	BJ	skin:	n/a
46	chr12:50306115-50306165	AG09319	gingival:	n/a
47	chr12:50300243-50300293	NHBE	bronchial:	n/a
48	chr12:50297588-50297638	T-47D	breast:	n/a
49	chr12:50297793-50297843	IMR90	lung:	fetal
50	chr12:50298731-50298781	AG04449	skin:	fetal

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50290402..50293463-chr12:50294998..50297478,3	MCF-7	breast:
2	chr12:50289663..50291836-chr12:50301537..50303310,2	MCF-7	breast:
3	chr12:50314261..50315806-chr12:50318855..50321127,2	K562	blood:
4	chr12:50303280..50304785-chr12:50307920..50310046,2	K562	blood:
5	chr12:50305622..50307544-chr12:50317876..50320067,2	MCF-7	breast:
6	chr12:50316423..50318171-chr12:50364926..50367311,2	K562	blood:
7	chr12:50295593..50300153-chr12:50302401..50306371,6	MCF-7	breast:
8	chr12:50278311..50281286-chr12:50298604..50300536,3	MCF-7	breast:
9	chr12:50315990..50318398-chr12:50322929..50325174,2	MCF-7	breast:
10	chr12:50313503..50315806-chr12:50319414..50321127,2	K562	blood:
11	chr12:50221331..50224259-chr12:50293444..50296232,2	K562	blood:
12	chr12:50283500..50287015-chr12:50298892..50302094,3	MCF-7	breast:
13	chr12:50295593..50300153-chr12:50302401..50306371,6	MCF-7	breast:
14	chr12:50280749..50283185-chr12:50302000..50304856,3	MCF-7	breast:
15	chr12:50259475..50261235-chr12:50302095..50303974,2	MCF-7	breast:
16	chr12:50301650..50304024-chr12:50450316..50452712,2	MCF-7	breast:
17	chr12:50290402..50293463-chr12:50294998..50297478,3	MCF-7	breast:
18	chr12:50304573..50306161-chr12:50309678..50311432,3	MCF-7	breast:
19	chr12:50287995..50291255-chr12:50301230..50303586,3	MCF-7	breast:
20	chr12:50308354..50310018-chr12:50335915..50338737,2	K562	blood:
21	chr12:50285473..50288081-chr12:50312540..50314584,2	K562	blood:
22	chr12:50302479..50304923-chr12:50336805..50339549,2	MCF-7	breast:
23	chr12:50288716..50291296-chr12:50313540..50316418,2	MCF-7	breast:
24	chr12:50306187..50308222-chr12:50311319..50313465,2	MCF-7	breast:
25	chr12:50310845..50314671-chr12:50331555..50334388,3	MCF-7	breast:
26	chr12:50304131..50306505-chr12:50308623..50311220,3	K562	blood:
27	chr12:50303280..50304785-chr12:50307920..50310046,2	K562	blood:
28	chr12:50306187..50308222-chr12:50311319..50313465,2	MCF-7	breast:
29	chr12:50302143..50304526-chr12:50326820..50329441,2	K562	blood:
30	chr12:50293107..50297008-chr12:50298407..50301335,3	MCF-7	breast:
31	chr12:50280227..50282176-chr12:50287942..50290577,2	K562	blood:

(count:31 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAIM2-1	chr12:50304956-50305073	ENSG00000258135
2	lnc-FAIM2-1	chr12:50304994-50305061	ENSG00000258135
3	lnc-FAIM2-1	chr12:50305597-50305646	ENSG00000258135
4	lnc-AQP2-1	chr12:50305736-50305866	XLOC_009748
5	lnc-FAIM2-1	chr12:50302668-50304837	XLOC_010072
6	lnc-FAIM2-1	chr12:50305597-50305641	ENSG00000258135
7	lnc-FAIM2-1	chr12:50305597-50305646	XLOC_010072
8	lnc-FAIM2-1	chr12:50304956-50305073	NONHSAT028150
9	lnc-FAIM2-1	chr12:50304956-50305073	XLOC_010072
10	lnc-FAIM2-1	chr12:50305597-50306075	XLOC_010072
11	lnc-FAIM2-1	chr12:50304228-50305073	ENSG00000258135
12	lnc-FAIM2-1	chr12:50302665-50302896	ENSG00000258135
13	lnc-FAIM2-1	chr12:50305597-50305646	NONHSAT028150
14	lnc-AQP2-1	chr12:50305736-50305866	ENSG00000257771
15	lnc-AQP2-1	chr12:50305565-50305866	XLOC_009748
16	lnc-FAIM2-1	chr12:50305597-50305640	ENSG00000258135
17	lnc-AQP2-1	chr12:50315709-50317464	ENSG00000257771
18	lnc-FAIM2-1	chr12:50302666-50304837	NONHSAT028150
19	lnc-FAIM2-1	chr12:50304956-50305073	ENSG00000258135
20	lnc-AQP2-1	chr12:50315709-50317464	XLOC_009748
21	lnc-AQP2-1	chr12:50315709-50315762	XLOC_009748
22	lnc-FAIM2-1	chr12:50304692-50304837	ENSG00000258135
23	lnc-AQP2-1	chr12:50315709-50315762	NONHSAT028156
24	lnc-AQP2-1	chr12:50305765-50305866	NONHSAT028156
25	lnc-AQP2-1	chr12:50305763-50305866	ENSG00000257771
26	lnc-FAIM2-1	chr12:50302667-50302896	XLOC_010072
27	lnc-FAIM2-1	chr12:50305597-50305625	ENSG00000258135
28	lnc-FAIM2-1	chr12:50302676-50304837	ENSG00000258135
29	lnc-AQP2-1	chr12:50313789-50314301	ENSG00000257771
30	lnc-FAIM2-1	chr12:50302665-50302896	ENSG00000258135
31	lnc-FAIM2-1	chr12:50302665-50302896	ENSG00000258135

No data

Variant related genes	Relation type
ENSG00000257771	TF binding region
ENSG00000258135	TF binding region
FAIM2	TF binding region
ENSG00000257771	CpG island
ENSG00000258135	CpG island
FAIM2	CpG island
ENSG00000167566	chromatin interactions
ENSG00000135472	chromatin interactions
ENSG00000110881	chromatin interactions
ENSG00000257771	chromatin interactions
ENSG00000258135	chromatin interactions
ENSG00000258057	chromatin interactions
ENSG00000086159	chromatin interactions
CYP24A1	miRNA target sites
VDAC1	miRNA target sites

Extended variants
information (count: 1164 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1164 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs956864	chr12:50290023-50290024	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs551748050	chr12:50290039-50290040	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs571651965	chr12:50290043-50290044	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs766977	chr12:50290056-50290057	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs139614818	chr12:50290189-50290190	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs181380716	chr12:50290202-50290203	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs567879310	chr12:50290228-50290229	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs544670347	chr12:50290229-50290230	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs533569695	chr12:50290243-50290244	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs553292858	chr12:50290375-50290376	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs184583499	chr12:50290437-50290438	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs538251176	chr12:50290522-50290523	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558486681	chr12:50290551-50290552	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs115819452	chr12:50290553-50290554	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs640081	chr12:50290554-50290555	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs536536425	chr12:50290565-50290566	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs78542783	chr12:50290588-50290589	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs527374647	chr12:50290593-50290594	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs554598671	chr12:50290618-50290619	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574716554	chr12:50290622-50290623	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs540416665	chr12:50290643-50290644	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs367754151	chr12:50290656-50290657	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs540453764	chr12:50290679-50290680	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547193302	chr12:50290689-50290690	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs532399586	chr12:50290718-50290719	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs77282374	chr12:50290721-50290722	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs297935	chr12:50290728-50290729	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370061356	chr12:50290775-50290776	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs373449500	chr12:50290838-50290839	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs145544941	chr12:50290854-50290855	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs543814184	chr12:50290904-50290905	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs370361911	chr12:50290907-50290908	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs367651093	chr12:50290919-50290920	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs530792591	chr12:50290923-50290924	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs551091450	chr12:50290929-50290930	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs567412770	chr12:50290980-50290981	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs376749021	chr12:50290992-50290993	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs370040529	chr12:50291001-50291002	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs546745282	chr12:50291022-50291023	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs147218619	chr12:50291026-50291027	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs200622345	chr12:50291038-50291039	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs370014465	chr12:50291084-50291085	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs566833974	chr12:50291116-50291117	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs529616463	chr12:50291118-50291119	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs558289734	chr12:50291152-50291153	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs111864573	chr12:50291228-50291229	Bivalent Enhancer Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs568862861	chr12:50291244-50291245	Bivalent Enhancer Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs375098704	chr12:50291252-50291253	Bivalent Enhancer Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs537426981	chr12:50291266-50291267	Bivalent Enhancer Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs377527737	chr12:50291277-50291278	Bivalent Enhancer Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD

Chromatin state (count:682 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50267000-50297000	Weak transcription	Right Atrium	heart
2	chr12:50275000-50294800	Weak transcription	Fetal Brain Male	brain
3	chr12:50283600-50290600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:50287000-50292000	Weak transcription	K562	blood
5	chr12:50287000-50295000	Strong transcription	Brain Germinal Matrix	brain
6	chr12:50287600-50295800	Strong transcription	Fetal Stomach	stomach
7	chr12:50287800-50291800	Enhancers	Esophagus	oesophagus
8	chr12:50288000-50290200	Genic enhancers	Brain Hippocampus Middle	brain
9	chr12:50288000-50290600	Genic enhancers	Brain Cingulate Gyrus	brain
10	chr12:50288000-50290800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:50288000-50291200	Genic enhancers	Brain Inferior Temporal Lobe	brain
12	chr12:50288800-50291800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr12:50288800-50292000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr12:50289000-50290600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:50289200-50291000	Enhancers	Fetal Muscle Leg	muscle
16	chr12:50289200-50292400	Strong transcription	Brain Anterior Caudate	brain
17	chr12:50289600-50290600	Weak transcription	Brain Substantia Nigra	brain
18	chr12:50289600-50291200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:50289600-50292400	Strong transcription	Brain Angular Gyrus	brain
20	chr12:50289800-50290200	Genic enhancers	Fetal Intestine Small	intestine
21	chr12:50289800-50291000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:50289800-50291600	Strong transcription	Fetal Brain Female	brain
23	chr12:50289800-50296200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:50290000-50290600	Weak transcription	Spleen	Spleen
25	chr12:50290000-50290800	Bivalent Enhancer	NHEK	skin
26	chr12:50290000-50293600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:50290200-50291400	Weak transcription	Fetal Intestine Small	intestine
28	chr12:50290200-50294800	Strong transcription	Brain Hippocampus Middle	brain
29	chr12:50290600-50290800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr12:50290600-50291000	Active TSS	Spleen	Spleen
31	chr12:50290600-50291200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:50290600-50292000	Strong transcription	Brain Substantia Nigra	brain
33	chr12:50290600-50294800	Strong transcription	Brain Cingulate Gyrus	brain
34	chr12:50290800-50291600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr12:50290800-50294200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:50291000-50291200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:50291000-50291200	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr12:50291200-50291400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:50291200-50291600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:50291200-50292200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:50291200-50293400	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr12:50291200-50296200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:50291400-50291600	Bivalent Enhancer	Osteobl	bone
44	chr12:50291600-50295400	Weak transcription	Fetal Brain Female	brain
45	chr12:50292000-50292600	Enhancers	K562	blood
46	chr12:50292000-50292800	Weak transcription	Brain Substantia Nigra	brain
47	chr12:50292000-50297400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr12:50292200-50295600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:50292400-50293200	Weak transcription	Brain Anterior Caudate	brain
50	chr12:50292400-50293400	Weak transcription	Brain Angular Gyrus	brain

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