Variant report

Variant	rs7307108
Chromosome Location	chr12:64220137-64220138
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	RAD21	chr12:64219695-64220295	ECC-1	luminal epithelium:	n/a	n/a
2	CTCF	chr12:64219391-64220470	A549	lung:	n/a	n/a
3	CTCF	chr12:64219822-64220148	Medullo	brain:	n/a	n/a
4	GATA3	chr12:64219260-64220223	MCF-7	breast:	n/a	chr12:64219551-64219572 chr12:64220189-64220199 chr12:64219808-64219829
5	RAD21	chr12:64219817-64220144	GM12878	blood:	n/a	n/a
6	CTCF	chr12:64219636-64220266	SK-N-SH	brain:	n/a	n/a
7	RAD21	chr12:64219675-64220167	ECC-1	luminal epithelium:	n/a	n/a
8	CTCF	chr12:64219630-64220241	MCF-7	breast:	n/a	n/a
9	RAD21	chr12:64219671-64220275	MCF-7	breast:	n/a	n/a
10	GATA3	chr12:64219739-64220180	T-47D	breast:	n/a	chr12:64219808-64219829
11	GATA3	chr12:64219821-64220188	T-47D	breast:	n/a	n/a
12	CTCF	chr12:64219851-64220143	GM13976	blood:	n/a	n/a
13	RAD21	chr12:64219670-64220183	HepG2	liver:	n/a	n/a
14	RAD21	chr12:64219827-64220145	HepG2	liver:	n/a	n/a
15	CEBPB	chr12:64219822-64220222	MCF-7	breast:	n/a	chr12:64220023-64220036
16	RAD21	chr12:64219743-64220300	HCT-116	colon:	n/a	n/a
17	CEBPB	chr12:64219807-64220196	H1-hESC	embryonic stem cell:	n/a	chr12:64220023-64220036
18	CTCF	chr12:64219683-64220160	A549	lung:	n/a	n/a
19	CEBPB	chr12:64219817-64220173	A549	lung:	n/a	chr12:64220023-64220036
20	RAD21	chr12:64219801-64220173	SK-N-SH_RA	brain:	n/a	n/a
21	RAD21	chr12:64219793-64220170	GM12878	blood:	n/a	n/a
22	CTCF	chr12:64219764-64220178	GM12878	blood:	n/a	n/a
23	ZNF143	chr12:64219790-64220170	GM12878	blood:	n/a	n/a
24	CTCF	chr12:64219794-64220191	HepG2	liver:	n/a	n/a
25	RAD21	chr12:64219721-64220240	MCF-7	breast:	n/a	n/a
26	CTCF	chr12:64219619-64220257	HCT-116	colon:	n/a	n/a
27	CTCF	chr12:64219818-64220187	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr12:64219757-64220180	K562	blood:	n/a	n/a
29	GATA3	chr12:64219586-64220246	MCF-7	breast:	n/a	chr12:64220189-64220199 chr12:64219808-64219829
30	RAD21	chr12:64219791-64220219	H1-hESC	embryonic stem cell:	n/a	n/a
31	SMC3	chr12:64219770-64220199	GM12878	blood:	n/a	n/a
32	GATA2	chr12:64219902-64220189	SH-SY5Y	brain:	n/a	n/a
33	CEBPB	chr12:64219840-64220186	K562	blood:	n/a	chr12:64220023-64220036
34	RAD21	chr12:64219776-64220200	Hela-S3	cervix:	n/a	n/a
35	ZNF143	chr12:64219814-64220137	K562	blood:	n/a	n/a
36	CEBPB	chr12:64219825-64220174	K562	blood:	n/a	chr12:64220023-64220036
37	CEBPB	chr12:64219845-64220190	IMR90	lung:	n/a	chr12:64220023-64220036
38	RAD21	chr12:64219802-64220170	A549	lung:	n/a	n/a
39	SPI1	chr12:64219709-64220153	HL-60	blood:	n/a	n/a
40	CTCF	chr12:64219743-64220168	IMR90	lung:	n/a	n/a
41	RAD21	chr12:64219772-64220181	IMR90	lung:	n/a	n/a
42	CEBPB	chr12:64219803-64220191	Hela-S3	cervix:	n/a	chr12:64220023-64220036
43	CEBPB	chr12:64219852-64220194	HepG2	liver:	n/a	chr12:64220023-64220036
44	RAD21	chr12:64219765-64220212	H1-hESC	embryonic stem cell:	n/a	n/a
45	RAD21	chr12:64219571-64220359	HCT-116	colon:	n/a	n/a
46	RAD21	chr12:64219726-64220205	SK-N-SH_RA	brain:	n/a	n/a
47	RAD21	chr12:64219707-64220315	A549	lung:	n/a	n/a
48	RAD21	chr12:64219829-64220140	GM12878	blood:	n/a	n/a
49	RAD21	chr12:64219787-64220178	HepG2	liver:	n/a	n/a
50	RAD21	chr12:64219635-64220380	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:64217509..64221238-chr12:64626563..64629980,3	MCF-7	breast:
2	chr12:64219869..64220408-chr12:64575352..64576044,2	MCF-7	breast:
3	chr12:64219539..64220451-chr12:64649674..64650349,4	MCF-7	breast:
4	chr12:64219544..64220917-chr12:64649566..64650605,8	MCF-7	breast:
5	chr12:64219747..64220434-chr12:64233020..64233910,3	MCF-7	breast:
6	chr12:64218848..64221454-chr12:64844872..64846756,2	MCF-7	breast:
7	chr12:64219890..64220437-chr12:64630051..64630776,2	MCF-7	breast:

Variant related genes	Relation type
TMEM5-AS1	TF binding region
ENSG00000183735	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10506464	0.87[ASN][1000 genomes]
rs11175184	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11175185	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11175188	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11175189	0.83[CEU][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11175197	0.83[ASN][1000 genomes]
rs11833808	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11835034	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12228199	0.83[CEU][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12229790	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12579795	0.84[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17099866	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2335884	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35143986	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3888050	0.85[AFR][1000 genomes]
rs4072758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55642517	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55655348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55760535	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55907605	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55930806	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56028204	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56080061	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56264182	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58424013	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59063572	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60031756	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6581509	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6581510	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66856673	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67401817	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67684483	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67830727	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67880496	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67892056	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67993208	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs68188132	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7136130	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7294327	0.84[CEU][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7301437	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7302672	1.00[CEU][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7304340	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7305893	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7308850	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7310327	0.83[CEU][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7310329	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310575	0.84[CEU][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7311353	0.92[EUR][1000 genomes]
rs7311611	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73313479	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73315321	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73315365	0.84[ASN][1000 genomes]
rs7953208	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759905	chr12:63901801-64252172	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised 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	20 gene(s)	inside rSNPs	diseases
3	esv2758312	chr12:63910416-64252172	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv832441	chr12:64063776-64252172	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv746	chr12:64189444-64234966	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64216000-64224200	Weak transcription	Aorta	Aorta
2	chr12:64216200-64237000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:64216400-64220200	Weak transcription	Fetal Lung	lung
4	chr12:64219600-64220200	Enhancers	NHDF-Ad	bronchial
5	chr12:64219600-64220200	Enhancers	Osteobl	bone
6	chr12:64219600-64220400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:64219800-64220200	Enhancers	Fetal Kidney	kidney
8	chr12:64219800-64220400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:64220000-64220600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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