Variant report

Variant	rs4980956
Chromosome Location	chr12:751723-751724
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr12:751594-751825	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:751100-753463	GM18951	blood:	n/a	n/a
3	SPI1	chr12:751588-751925	GM12878	blood:	n/a	n/a
4	USF1	chr12:751717-752238	A549	lung:	n/a	chr12:751804-751820
5	POLR2A	chr12:751694-752580	HUVEC	blood vessel:	n/a	n/a
6	NFIC	chr12:751224-752213	GM12878	blood:	n/a	n/a
7	EBF1	chr12:751588-752360	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:751690-754604	GM12878	blood:	n/a	n/a
9	USF1	chr12:751666-752316	HCT-116	colon:	n/a	chr12:751804-751820
10	MAX	chr12:751705-752974	H1-hESC	embryonic stem cell:	n/a	chr12:751947-751960 chr12:751949-751958 chr12:751948-751959 chr12:751947-751960 chr12:751947-751955 chr12:751949-751958
11	POLR2A	chr12:751667-753390	GM10847	blood:	n/a	n/a
12	POLR2A	chr12:751655-753711	GM19099	blood:	n/a	n/a
13	POLR2A	chr12:751656-753584	GM12878	blood:	n/a	n/a
14	GABPA	chr12:751723-752174	A549	lung:	n/a	chr12:751806-751815
15	TBL1XR1	chr12:751717-753415	GM12878	blood:	n/a	n/a
16	MEF2A	chr12:751518-752246	GM12878	blood:	n/a	chr12:751697-751713
17	GABPA	chr12:751686-752183	HL-60	blood:	n/a	chr12:751806-751815
18	GABPA	chr12:751606-752671	K562	blood:	n/a	chr12:751806-751815
19	CTCF	chr12:751692-752619	GM12878	blood:	n/a	chr12:751803-751816
20	CTCF	chr12:751700-751850	AG04450	lung:	n/a	chr12:751803-751816
21	GABPA	chr12:751678-752264	MCF-7	breast:	n/a	chr12:751806-751815
22	BCLAF1	chr12:751697-753147	GM12878	blood:	n/a	n/a
23	USF1	chr12:751683-752240	A549	lung:	n/a	chr12:751804-751820
24	MAX	chr12:751623-752814	A549	lung:	n/a	chr12:751947-751960 chr12:751949-751958 chr12:751948-751959 chr12:751947-751960 chr12:751947-751955 chr12:751949-751958
25	RUNX3	chr12:751543-753475	GM12878	blood:	n/a	n/a
26	CTCF	chr12:751700-751850	GM12869	blood:	n/a	chr12:751803-751816
27	SP1	chr12:751671-752201	GM12878	blood:	n/a	chr12:751827-751839 chr12:751829-751838 chr12:751827-751839 chr12:751828-751837 chr12:751835-751849
28	CTCF	chr12:751720-751990	GM12868	blood:	n/a	chr12:751803-751816
29	GABPA	chr12:751591-752110	MCF-7	breast:	n/a	chr12:751806-751815
30	POLR2A	chr12:751668-753531	HUVEC	blood vessel:	n/a	n/a
31	MEF2C	chr12:751519-752141	GM12878	blood:	n/a	chr12:751697-751713
32	E2F6	chr12:751591-752697	A549	lung:	n/a	chr12:751828-751837
33	ETS1	chr12:751674-752303	GM12878	blood:	n/a	chr12:751999-752010 chr12:751804-751815 chr12:751825-751836
34	BCLAF1	chr12:751703-752097	GM12878	blood:	n/a	n/a
35	USF1	chr12:751710-752095	SK-N-SH_RA	brain:	n/a	chr12:751804-751820
36	SRF	chr12:751692-752037	GM12878	blood:	n/a	chr12:751827-751837
37	POLR2A	chr12:751672-753373	GM15510	blood:	n/a	n/a
38	TCF12	chr12:751180-752709	A549	lung:	n/a	chr12:751767-751774
39	E2F6	chr12:751710-753088	H1-hESC	embryonic stem cell:	n/a	chr12:751828-751837
40	JUND	chr12:751608-752434	A549	lung:	n/a	chr12:751827-751836
41	POLR2A	chr12:751711-752906	A549	lung:	n/a	n/a
42	YY1	chr12:751597-753262	GM12878	blood:	n/a	chr12:751806-751820
43	POLR2A	chr12:751642-753423	GM18526	blood:	n/a	n/a
44	CTCF	chr12:751700-751850	BJ	skin:	n/a	chr12:751803-751816
45	CTCF	chr12:751700-751850	HCFaa	heart:	n/a	chr12:751803-751816
46	YY1	chr12:751723-752025	GM12891	blood:	n/a	chr12:751806-751820
47	EBF1	chr12:751655-752090	GM12878	blood:	n/a	n/a
48	EGR1	chr12:751679-752289	K562	blood:	n/a	chr12:751823-751836 chr12:751827-751837 chr12:751926-751940
49	POLR2A	chr12:751693-752998	Hela-S3	cervix:	n/a	n/a
50	ELF1	chr12:751561-753394	GM12878	blood:	n/a	chr12:753097-753110 chr12:753050-753063

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:751692-751742	SK-N-MC	brain:	n/a
2	chr12:751692-751742	NHDF-neo	bronchial:	n/a
3	chr12:751692-751742	MCF-7	breast:	n/a
4	chr12:751692-751742	ECC-1	luminal epithelium:	n/a
5	chr12:751692-751742	Jurkat	blood:	n/a
6	chr12:751692-751742	IMR90	lung:	fetal
7	chr12:751692-751742	AG10803	skin:	n/a
8	chr12:751692-751742	NH-A	brain:	n/a
9	chr12:751692-751742	PFSK-1	brain:	n/a
10	chr12:751692-751742	SKMC	muscle:	n/a
11	chr12:751692-751742	SK-N-SH	brain:	n/a
12	chr12:751692-751742	NT2-D1	testis:	n/a
13	chr12:751692-751742	U87	brain:	n/a
14	chr12:751692-751742	Hepatocyte	liver:	n/a
15	chr12:751692-751742	PrEC	prostate:	n/a
16	chr12:751692-751742	HepG2	liver:	n/a
17	chr12:751692-751742	HUVEC	blood vessel:	n/a
18	chr12:751692-751742	HCM	heart:	n/a
19	chr12:751692-751742	MCF10A-Er-Src	breast:	n/a
20	chr12:751692-751742	BE2_C	brain:	n/a
21	chr12:751692-751742	GM12878	blood:	n/a
22	chr12:751692-751742	BJ	skin:	n/a
23	chr12:751692-751742	HMEC	breast:	n/a
24	chr12:751692-751742	NHBE	bronchial:	n/a
25	chr12:751692-751742	HCPEpiC	choroid plexus:	n/a
26	chr12:751692-751742	HCT-116	colon:	n/a
27	chr12:751692-751742	CMK	blood:	n/a
28	chr12:751692-751742	AG09319	gingival:	n/a
29	chr12:751692-751742	HRE	kidney:	n/a
30	chr12:751692-751742	HCF	heart:	n/a
31	chr12:751692-751742	LNCaP	prostate:	n/a
32	chr12:751692-751742	ProgFib	skin:	n/a
33	chr12:751692-751742	HAEpiC	amniotic membrane:	n/a
34	chr12:751692-751742	SAEC	small airway:	n/a
35	chr12:751692-751742	HPAEpiC	pulmonary alveolar:	n/a
36	chr12:751692-751742	HL-60	blood:	n/a
37	chr12:751692-751742	GM12892	blood:	n/a
38	chr12:751692-751742	HEEpiC	esophagus:	n/a
39	chr12:751692-751742	HRCEpiC	kidney:	n/a
40	chr12:751692-751742	GM12891	blood:	n/a
41	chr12:751692-751742	AG04449	skin:	fetal
42	chr12:751692-751742	NB4	blood:	n/a
43	chr12:751692-751742	HIPEpiC	eye:	n/a
44	chr12:751692-751742	ovcar-3	ovarian:	n/a
45	chr12:751692-751742	HEK293	kidney:	embryo
46	chr12:751692-751742	RPTEC	kidney:	n/a
47	chr12:751692-751742	AG09309	skin:	n/a
48	chr12:751692-751742	HNPCEpiC	eye:	n/a
49	chr12:751692-751742	PANC-1	pancreas:	n/a
50	chr12:751692-751742	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:738549..743434-chr12:750658..753859,6	MCF-7	breast:
2	chr12:750256..753677-chr12:768929..774136,4	MCF-7	breast:
3	chr12:739608..744885-chr12:750259..753818,8	MCF-7	breast:
4	chr12:749128..755954-chr12:858463..864495,7	MCF-7	breast:
5	chr12:508524..511172-chr12:751040..752702,2	MCF-7	breast:
6	chr12:749727..757562-chr12:858273..868886,17	MCF-7	breast:
7	chr12:751220..755551-chr12:860416..865761,8	K562	blood:
8	chr12:698993..700663-chr12:750297..752796,2	K562	blood:

Variant related genes	Relation type
ENSG00000177406	TF binding region
ENSG00000177406	CpG island
ENSG00000255825	Chromatin interaction
ENSG00000171840	Chromatin interaction
ENSG00000120647	Chromatin interaction
ENSG00000060237	Chromatin interaction
ENSG00000177406	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12818223	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2369392	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2369393	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041574	chr12:282465-812000	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv541305	chr12:282465-1016828	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	nsv869390	chr12:282465-1045994	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1049944	chr12:282465-1232077	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv541306	chr12:282465-1232077	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1050781	chr12:321353-783899	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv1040849	chr12:321619-771493	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv541322	chr12:321619-771493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv1035679	chr12:321619-781558	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv1053519	chr12:321619-828175	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
11	nsv1044433	chr12:321619-1065402	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
12	nsv541323	chr12:321619-1065402	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
13	esv2759875	chr12:335010-990544	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
14	nsv1045638	chr12:349031-893536	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
15	nsv541325	chr12:349031-893536	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
16	nsv949469	chr12:380411-1122450	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
17	esv2758290	chr12:457433-990544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
18	nsv949226	chr12:493900-814882	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
19	nsv898567	chr12:547683-863517	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
20	nsv898568	chr12:547683-969800	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
21	nsv898569	chr12:573870-776471	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
22	nsv491937	chr12:574727-835424	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
23	nsv1040579	chr12:575633-761560	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
24	nsv1049625	chr12:595867-840090	Strong transcription Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
25	nsv541331	chr12:595867-840090	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
26	nsv468951	chr12:624947-783484	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
27	nsv470254	chr12:624947-783484	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
28	nsv556885	chr12:624947-783484	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
29	nsv556887	chr12:632240-867504	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
30	nsv1042529	chr12:634019-776371	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
31	nsv556890	chr12:662448-1100555	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
32	nsv1049389	chr12:673428-778337	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
33	nsv541335	chr12:673428-778337	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
34	nsv556892	chr12:673515-1210884	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
35	nsv1045227	chr12:681554-786238	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
36	nsv1049913	chr12:682848-781558	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
37	nsv1044022	chr12:683606-783899	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
38	nsv898573	chr12:690473-803488	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
39	nsv1040089	chr12:697209-778337	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
40	nsv541337	chr12:697209-778337	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
41	nsv1053080	chr12:706423-781558	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
42	nsv1048965	chr12:706423-803160	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
43	nsv898574	chr12:708597-796131	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
44	nsv1051590	chr12:722215-974773	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
45	nsv541338	chr12:722215-974773	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
46	esv2755536	chr12:736714-768033	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
47	esv1802746	chr12:737230-752482	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
48	nsv468956	chr12:737230-982321	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
49	nsv556893	chr12:737230-982321	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
50	nsv556894	chr12:740938-752482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:742000-751800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:742400-752200	Weak transcription	Brain Substantia Nigra	brain
3	chr12:742600-751800	Weak transcription	Esophagus	oesophagus
4	chr12:746200-751800	Enhancers	Primary B cells from cord blood	blood
5	chr12:747400-752200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:747400-754000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:747600-751800	Weak transcription	HMEC	breast
8	chr12:749400-751800	Weak transcription	Left Ventricle	heart
9	chr12:749400-752200	Weak transcription	HUVEC	blood vessel
10	chr12:749400-752400	Weak transcription	HSMMtube	muscle
11	chr12:750200-753200	Weak transcription	HepG2	liver
12	chr12:750400-752200	Weak transcription	NHEK	skin
13	chr12:750800-751800	Enhancers	Primary hematopoietic stem cells	blood
14	chr12:750800-752200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:751000-751800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr12:751000-751800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr12:751200-751800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:751200-751800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr12:751200-751800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:751200-751800	Flanking Active TSS	Placenta	Placenta
21	chr12:751200-751800	Weak transcription	Lung	lung
22	chr12:751200-752000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr12:751200-752200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:751200-752400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:751200-752400	Active TSS	Brain Hippocampus Middle	brain
26	chr12:751200-752400	Active TSS	Stomach Smooth Muscle	stomach
27	chr12:751200-752600	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr12:751200-752600	Active TSS	Brain Anterior Caudate	brain
29	chr12:751200-752800	Active TSS	Brain Germinal Matrix	brain
30	chr12:751400-751800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:751400-751800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr12:751400-751800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr12:751400-751800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr12:751400-751800	Weak transcription	Liver	Liver
35	chr12:751400-751800	Flanking Active TSS	Fetal Muscle Trunk	muscle
36	chr12:751400-752000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr12:751400-752200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:751400-752200	Weak transcription	Spleen	Spleen
39	chr12:751400-752200	Weak transcription	K562	blood
40	chr12:751400-752400	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr12:751400-752400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:751400-752400	Active TSS	Brain Cingulate Gyrus	brain
43	chr12:751400-752400	Active TSS	Fetal Muscle Leg	muscle
44	chr12:751400-752600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:751400-752600	Active TSS	Duodenum Mucosa	Duodenum
46	chr12:751400-752600	Active TSS	Fetal Intestine Small	intestine
47	chr12:751400-752600	Active TSS	Fetal Lung	lung
48	chr12:751400-752600	Active TSS	Fetal Stomach	stomach
49	chr12:751400-752600	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr12:751400-752800	Active TSS	Brain Angular Gyrus	brain

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