Variant report

Variant	rs2607924
Chromosome Location	chr12:700675-700676
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	EP300	chr12:700390-701597	K562	blood:	n/a	chr12:701099-701112
2	CTCF	chr12:700262-700977	K562	blood:	n/a	chr12:700505-700518
3	CREB1	chr12:700450-701612	K562	blood:	n/a	chr12:701017-701030
4	POLR2A	chr12:700665-701017	SK-N-SH	brain:	n/a	n/a
5	SRF	chr12:700569-701026	K562	blood:	n/a	n/a
6	RCOR1	chr12:700385-700741	HepG2	liver:	n/a	n/a
7	TBL1XR1	chr12:700516-701489	K562	blood:	n/a	n/a
8	ZNF384	chr12:700596-701310	K562	blood:	n/a	n/a
9	CBX3	chr12:700299-701530	K562	blood:	n/a	n/a
10	MAZ	chr12:700328-701531	K562	blood:	n/a	chr12:700599-700608
11	NR2F2	chr12:700333-701622	K562	blood:	n/a	n/a
12	CEBPD	chr12:700318-701672	K562	blood:	n/a	n/a
13	ETS1	chr12:700652-701008	K562	blood:	n/a	n/a
14	GTF2F1	chr12:700630-700989	K562	blood:	n/a	n/a
15	GATA2	chr12:700625-701144	K562	blood:	n/a	chr12:700885-700892 chr12:700885-700892 chr12:700885-700892
16	GATA2	chr12:700351-701623	K562	blood:	n/a	chr12:700885-700892 chr12:700885-700892 chr12:700885-700892
17	UBTF	chr12:700361-701374	K562	blood:	n/a	n/a
18	SMC3	chr12:700619-700948	K562	blood:	n/a	n/a
19	HMGN3	chr12:700670-701499	K562	blood:	n/a	n/a
20	CUX1	chr12:700502-701426	K562	blood:	n/a	n/a
21	CEBPB	chr12:700379-701100	K562	blood:	n/a	n/a
22	GABPA	chr12:700573-701171	K562	blood:	n/a	n/a
23	MYC	chr12:700514-701594	K562	blood:	n/a	chr12:700599-700608
24	GATA3	chr12:700648-701487	SH-SY5Y	brain:	n/a	chr12:700885-700892 chr12:700885-700892 chr12:700885-700892
25	YY1	chr12:700452-701062	K562	blood:	n/a	n/a
26	TAL1	chr12:700303-701630	K562	blood:	n/a	chr12:700813-700828 chr12:700813-700828 chr12:700813-700828
27	POLR2A	chr12:700599-701561	K562	blood:	n/a	n/a
28	TRIM28	chr12:700545-701420	K562	blood:	n/a	n/a
29	GATA2	chr12:700450-701652	SH-SY5Y	brain:	n/a	chr12:700885-700892 chr12:700885-700892 chr12:700885-700892
30	CEBPD	chr12:700562-701556	K562	blood:	n/a	n/a
31	GATA3	chr12:700548-701173	SK-N-SH	brain:	n/a	chr12:700885-700892 chr12:700885-700892 chr12:700885-700892
32	PML	chr12:700462-701558	K562	blood:	n/a	n/a
33	IRF1	chr12:700583-701474	K562	blood:	n/a	n/a
34	POLR2A	chr12:700361-701737	K562	blood:	n/a	n/a
35	RCOR1	chr12:700245-701543	K562	blood:	n/a	n/a
36	MAX	chr12:700235-701089	K562	blood:	n/a	chr12:700599-700608
37	GATA1	chr12:700395-701450	PBDEFetal	blood:	n/a	chr12:700885-700892 chr12:700885-700892 chr12:700885-700892
38	GATA1	chr12:700163-701738	PBDE	blood:	n/a	chr12:700885-700892 chr12:700885-700892 chr12:700885-700892
39	TEAD4	chr12:700445-701601	K562	blood:	n/a	n/a
40	JUN	chr12:700401-701493	K562	blood:	n/a	chr12:700551-700558
41	JUND	chr12:700511-701546	K562	blood:	n/a	chr12:700551-700558
42	POLR2A	chr12:700658-701101	K562	blood:	n/a	n/a
43	PML	chr12:700557-701146	K562	blood:	n/a	n/a
44	CREB1	chr12:700482-701608	K562	blood:	n/a	chr12:701017-701030
45	ATF1	chr12:700356-701564	K562	blood:	n/a	n/a
46	MAFK	chr12:700478-700736	HepG2	liver:	n/a	chr12:700658-700667 chr12:700653-700668
47	BACH1	chr12:700450-701053	K562	blood:	n/a	n/a
48	GABPA	chr12:700492-701121	K562	blood:	n/a	n/a
49	CCNT2	chr12:700527-701551	K562	blood:	n/a	chr12:700685-700694
50	MAFF	chr12:700495-700753	HepG2	liver:	n/a	chr12:700651-700669

No.	Distal block	Cell Line	Cell type
1	chr12:694949..697415-chr12:700314..702254,3	MCF-7	breast:
2	chr12:699762..702653-chr12:861563..863460,2	K562	blood:
3	chr12:693107..696400-chr12:699400..702911,3	K562	blood:
4	chr12:699443..701175-chr12:860085..862730,2	K562	blood:

Variant related genes	Relation type
RNU7-103P	TF binding region
ENSG00000060237	Chromatin interaction
ENSG00000256020	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10774355	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10774356	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10849312	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10849313	0.87[EUR][1000 genomes]
rs2535385	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2535386	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2535388	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2535389	0.94[CEU][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2535426	0.86[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2535427	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2535436	0.89[CEU][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.93[LWK][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2607926	0.88[CEU][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2607930	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2607936	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2607940	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7308247	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

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	nsv1050226	chr12:441032-743195	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	nsv1038199	chr12:623813-742216	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
28	nsv541333	chr12:623813-742216	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
29	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
30	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
31	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
32	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
33	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
34	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
35	nsv898572	chr12:662838-711646	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
36	nsv1042559	chr12:666195-714800	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
37	nsv1046123	chr12:667610-704448	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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	nsv1035145	chr12:667610-717138	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
39	nsv519441	chr12:669310-716509	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers 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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	esv3374336	chr12:698191-701489	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2607924	RP11-218M22.1	cis	Artery Aorta	GTEx
rs2607924	RAD52	cis	parietal	SCAN
rs2607924	KDM5A	cis	parietal	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:686200-716200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr12:695800-701000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr12:696600-715800	Weak transcription	Thymus	Thymus
4	chr12:698000-702800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:698200-701200	Enhancers	Fetal Heart	heart
6	chr12:698800-701600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:698800-701600	Enhancers	Right Atrium	heart
8	chr12:698800-702000	Enhancers	Left Ventricle	heart
9	chr12:699000-701400	Enhancers	Brain Substantia Nigra	brain
10	chr12:699000-701600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:699000-701600	Enhancers	Esophagus	oesophagus
12	chr12:699400-700800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:699400-701400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr12:699400-701400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr12:699400-701800	Enhancers	Pancreas	Pancrea
16	chr12:699600-701600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr12:699600-701600	Enhancers	Fetal Muscle Leg	muscle
18	chr12:699600-701800	Enhancers	Fetal Muscle Trunk	muscle
19	chr12:699600-702200	Enhancers	Primary hematopoietic stem cells	blood
20	chr12:700200-701400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:700200-701400	Enhancers	Brain Angular Gyrus	brain
22	chr12:700200-701400	Enhancers	Brain Cingulate Gyrus	brain
23	chr12:700200-701400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr12:700200-701600	Enhancers	Right Ventricle	heart
25	chr12:700200-701600	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr12:700200-701800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr12:700200-702000	Enhancers	Placenta	Placenta
28	chr12:700200-703200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr12:700400-700800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:700400-700800	Enhancers	Lung	lung
31	chr12:700400-700800	Enhancers	GM12878-XiMat	blood
32	chr12:700400-701200	Enhancers	Primary B cells from peripheral blood	blood
33	chr12:700400-701200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:700400-701400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr12:700400-701400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:700400-701400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr12:700400-701400	Enhancers	Primary B cells from cord blood	blood
38	chr12:700400-701400	Enhancers	Adipose Nuclei	Adipose
39	chr12:700400-701400	Enhancers	Brain Anterior Caudate	brain
40	chr12:700400-701400	Enhancers	Fetal Thymus	thymus
41	chr12:700400-701400	Enhancers	Gastric	stomach
42	chr12:700400-701400	Enhancers	Spleen	Spleen
43	chr12:700400-701600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr12:700400-701600	Enhancers	Brain Hippocampus Middle	brain
45	chr12:700400-701600	Enhancers	Psoas Muscle	Psoas
46	chr12:700400-701600	Flanking Active TSS	HepG2	liver
47	chr12:700400-701800	Flanking Active TSS	K562	blood
48	chr12:700600-701200	Bivalent Enhancer	Fetal Stomach	stomach
49	chr12:700600-701400	Enhancers	Liver	Liver
50	chr12:700600-701400	Enhancers	Fetal Lung	lung

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