Variant report

Variant	rs530510
Chromosome Location	chr12:319790-319791
allele	C/G
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	MYC	chr12:319458-319847	HepG2	liver:	n/a	n/a
2	HNF4A	chr12:319407-319906	HepG2	liver:	n/a	chr12:319620-319632 chr12:319571-319586
3	EP300	chr12:319319-319905	HepG2	liver:	n/a	chr12:319718-319734 chr12:319701-319711
4	CREB1	chr12:319303-320445	HepG2	liver:	n/a	n/a
5	MBD4	chr12:319330-319953	HepG2	liver:	n/a	n/a
6	USF2	chr12:319463-319919	HepG2	liver:	n/a	n/a
7	TBP	chr12:319455-320240	HepG2	liver:	n/a	n/a
8	MAX	chr12:319447-320096	HepG2	liver:	n/a	chr12:320075-320084
9	HDAC2	chr12:319393-319907	HepG2	liver:	n/a	chr12:319702-319711
10	CEBPB	chr12:319474-319857	HepG2	liver:	n/a	chr12:319676-319688
11	MAX	chr12:319280-320023	HepG2	liver:	n/a	n/a
12	JUND	chr12:319481-319828	HepG2	liver:	n/a	n/a
13	BHLHE40	chr12:319181-319880	HepG2	liver:	n/a	n/a
14	BHLHE40	chr12:319461-319850	HepG2	liver:	n/a	n/a
15	FOXA2	chr12:319193-320249	HepG2	liver:	n/a	n/a
16	MAFK	chr12:319134-319806	HepG2	liver:	n/a	chr12:319287-319298 chr12:319286-319297 chr12:319282-319298 chr12:319285-319299 chr12:319287-319298
17	RFX5	chr12:319554-319914	HepG2	liver:	n/a	n/a
18	NFIC	chr12:319308-320008	HepG2	liver:	n/a	n/a
19	ARID3A	chr12:319277-319842	HepG2	liver:	n/a	n/a
20	MYBL2	chr12:319294-320264	HepG2	liver:	n/a	n/a
21	TCF7L2	chr12:319099-320658	HepG2	liver:	n/a	chr12:319595-319609
22	MBD4	chr12:319293-319950	HepG2	liver:	n/a	n/a
23	TEAD4	chr12:319332-319989	HepG2	liver:	n/a	n/a
24	EP300	chr12:319409-319858	HepG2	liver:	n/a	chr12:319718-319734 chr12:319701-319711
25	FOXA1	chr12:319309-320354	HepG2	liver:	n/a	n/a
26	TCF12	chr12:319403-319850	HepG2	liver:	n/a	chr12:319670-319677
27	POLR2A	chr12:319519-320277	HepG2	liver:	n/a	n/a
28	MAZ	chr12:319429-319900	HepG2	liver:	n/a	n/a
29	MAFF	chr12:319158-319799	HepG2	liver:	n/a	chr12:319548-319566
30	NR2F2	chr12:319070-320552	HepG2	liver:	n/a	chr12:319617-319632
31	YY1	chr12:319450-320044	HepG2	liver:	n/a	n/a
32	FOXA2	chr12:319392-319937	HepG2	liver:	n/a	n/a
33	JUND	chr12:319382-319852	HepG2	liver:	n/a	n/a
34	MYBL2	chr12:319264-319998	HepG2	liver:	n/a	n/a
35	REST	chr12:319400-319939	HepG2	liver:	n/a	n/a
36	ESRRA	chr12:319415-319906	HepG2	liver:	n/a	n/a
37	JUND	chr12:319468-319857	HepG2	liver:	n/a	n/a
38	FOXA1	chr12:319321-320410	HepG2	liver:	n/a	n/a
39	NFIC	chr12:319387-320024	HepG2	liver:	n/a	n/a
40	FOSL2	chr12:319376-319875	HepG2	liver:	n/a	n/a
41	CEBPB	chr12:319495-319805	HepG2	liver:	n/a	chr12:319676-319688
42	SP1	chr12:319308-319975	HepG2	liver:	n/a	n/a
43	EP300	chr12:319317-320412	HepG2	liver:	n/a	chr12:319718-319734 chr12:319992-320008 chr12:319701-319711
44	CEBPD	chr12:319456-319844	HepG2	liver:	n/a	n/a
45	RCOR1	chr12:319449-319915	HepG2	liver:	n/a	n/a
46	FOXA1	chr12:319438-319923	HepG2	liver:	n/a	n/a
47	HNF4G	chr12:319362-319901	HepG2	liver:	n/a	chr12:319620-319632 chr12:319613-319628
48	MAFK	chr12:319131-319790	HepG2	liver:	n/a	chr12:319287-319298 chr12:319286-319297 chr12:319282-319298 chr12:319285-319299 chr12:319287-319298
49	HDAC2	chr12:319306-319904	HepG2	liver:	n/a	chr12:319702-319711
50	HNF4A	chr12:319333-319799	HepG2	liver:	n/a	chr12:319620-319632 chr12:319571-319586

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:311759..314778-chr12:317325..320101,3	MCF-7	breast:

Variant related genes	Relation type
SLC6A12	TF binding region
ENSG00000111181	Chromatin interaction
ENSG00000256577	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16928441	1.00[EUR][1000 genomes]
rs188610	1.00[EUR][1000 genomes]
rs34042024	1.00[EUR][1000 genomes]
rs522993	1.00[EUR][1000 genomes]
rs7138605	1.00[EUR][1000 genomes]
rs7315381	1.00[EUR][1000 genomes]
rs74057622	1.00[EUR][1000 genomes]
rs74057623	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv983433	chr12:145740-400932	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv427901	chr12:146333-344299	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv428269	chr12:146333-344299	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1038621	chr12:150430-324923	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv556856	chr12:282465-327421	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv468946	chr12:282465-335922	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv556855	chr12:282465-335922	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv898561	chr12:282465-335922	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1051166	chr12:282465-341144	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv898560	chr12:282465-349298	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv898557	chr12:282465-367902	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv491944	chr12:282465-369192	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv468947	chr12:282465-377904	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv556857	chr12:282465-377904	Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv1037090	chr12:282465-387718	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1042229	chr12:282465-387718	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv541303	chr12:282465-387718	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv1046121	chr12:282465-416134	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv531957	chr12:282465-465789	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	nsv1049579	chr12:282465-471163	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	nsv949498	chr12:282465-493900	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
22	nsv1051726	chr12:282465-511843	Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
23	nsv541304	chr12:282465-635505	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
24	nsv1042991	chr12:282465-666255	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
25	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
26	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
27	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
28	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
29	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
30	nsv556861	chr12:293513-360614	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
31	nsv1036580	chr12:295971-365820	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
32	nsv1054973	chr12:296179-464439	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
33	nsv541321	chr12:296179-464439	Weak transcription Strong transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
34	nsv523142	chr12:299043-332860	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:314000-321400	Weak transcription	Brain Anterior Caudate	brain
2	chr12:317200-323400	Enhancers	Pancreas	Pancrea
3	chr12:317400-320200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr12:318400-321600	Weak transcription	Fetal Kidney	kidney
5	chr12:318400-321800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:318400-321800	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr12:318600-321400	Weak transcription	Spleen	Spleen
8	chr12:319200-320400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:319400-319800	Enhancers	Liver	Liver
10	chr12:319600-319800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:319600-319800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:319600-319800	Enhancers	HepG2	liver
13	chr12:319600-320800	Enhancers	Gastric	stomach
14	chr12:319600-321600	Enhancers	Duodenum Mucosa	Duodenum

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