Variant report

Variant	rs7138488
Chromosome Location	chr12:82751483-82751484
allele	A/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	CEBPB	chr12:82751128-82752533	HepG2	liver:	n/a	chr12:82751310-82751321 chr12:82751310-82751319 chr12:82751308-82751319 chr12:82751308-82751321
2	TBP	chr12:82751454-82752431	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr12:82750855-82752888	H1-hESC	embryonic stem cell:	n/a	n/a
4	HCFC1	chr12:82751173-82753373	Hela-S3	cervix:	n/a	n/a
5	SIN3A	chr12:82751429-82753133	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD1	chr12:82751288-82752596	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr12:82751372-82753326	GM12878	blood:	n/a	n/a
8	CEBPB	chr12:82751109-82752514	K562	blood:	n/a	chr12:82751310-82751321 chr12:82751310-82751319 chr12:82751308-82751319 chr12:82751308-82751321
9	CEBPB	chr12:82751134-82753208	Hela-S3	cervix:	n/a	chr12:82751310-82751321 chr12:82751310-82751319 chr12:82751308-82751319 chr12:82751308-82751321
10	POLR2A	chr12:82751316-82753027	IMR90	lung:	n/a	n/a
11	POLR2A	chr12:82750991-82752706	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr12:82751428-82752873	K562	blood:	n/a	n/a
13	CEBPB	chr12:82751174-82752706	HepG2	liver:	n/a	chr12:82751310-82751321 chr12:82751310-82751319 chr12:82751308-82751319 chr12:82751308-82751321
14	POLR2A	chr12:82751264-82752801	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr12:82751247-82753107	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr12:82751459-82753127	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr12:82751137-82753137	A549	lung:	n/a	chr12:82751310-82751321 chr12:82751310-82751319 chr12:82751308-82751319 chr12:82751308-82751321
18	POLR2A	chr12:82751255-82752563	K562	blood:	n/a	n/a
19	CEBPB	chr12:82751136-82753136	IMR90	lung:	n/a	chr12:82751310-82751321 chr12:82751310-82751319 chr12:82751308-82751319 chr12:82751308-82751321
20	MYC	chr12:82751264-82752846	K562	blood:	n/a	n/a
21	CTCF	chr12:82750976-82754265	A549	lung:	n/a	chr12:82752664-82752682 chr12:82752667-82752677 chr12:82752861-82752869 chr12:82752670-82752679 chr12:82753648-82753656 chr12:82752666-82752679 chr12:82753645-82753666

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:82733864..82736775-chr12:82750213..82751764,2	MCF-7	breast:

Variant related genes	Relation type
CCDC59	TF binding region
METTL25	TF binding region
ENSG00000221121	Chromatin interaction

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10506869	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs10506872	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10735453	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs10746242	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10746244	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs10746245	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10778888	1.00[ASN][1000 genomes]
rs10778889	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10778895	1.00[ASN][1000 genomes]
rs10778902	1.00[ASN][1000 genomes]
rs10778908	1.00[CHB][hapmap]
rs10862480	1.00[ASN][1000 genomes]
rs10862482	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11115234	1.00[ASN][1000 genomes]
rs11115240	1.00[ASN][1000 genomes]
rs11115241	1.00[ASN][1000 genomes]
rs11115242	1.00[ASN][1000 genomes]
rs11831879	1.00[ASN][1000 genomes]
rs11832758	1.00[ASN][1000 genomes]
rs11835324	1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11836773	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1494023	1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[ASN][1000 genomes]
rs1494024	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1494027	1.00[CHB][hapmap]
rs17711838	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17712868	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17712927	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17719063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17719970	1.00[ASN][1000 genomes]
rs17720305	1.00[ASN][1000 genomes]
rs17773938	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17774157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17774489	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17774872	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17775025	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17775169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17776036	1.00[ASN][1000 genomes]
rs17776290	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17776375	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17776885	1.00[ASN][1000 genomes]
rs2401034	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs2401035	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs2642010	1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[ASN][1000 genomes]
rs2717446	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs2731287	1.00[ASN][1000 genomes]
rs2895914	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs2896434	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs34638401	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34775923	1.00[ASN][1000 genomes]
rs4143188	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs4143189	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs4319577	1.00[ASN][1000 genomes]
rs4411333	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4491327	1.00[ASN][1000 genomes]
rs4495950	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs4544081	1.00[CHB][hapmap]
rs4882453	1.00[ASN][1000 genomes]
rs4882526	1.00[ASN][1000 genomes]
rs4882527	1.00[ASN][1000 genomes]
rs4882528	1.00[ASN][1000 genomes]
rs4882530	1.00[ASN][1000 genomes]
rs57418508	1.00[ASN][1000 genomes]
rs6539659	1.00[ASN][1000 genomes]
rs6539662	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7294780	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294918	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295042	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295566	1.00[ASN][1000 genomes]
rs7304084	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7311246	1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[ASN][1000 genomes]
rs73149542	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149543	0.83[EUR][1000 genomes]
rs73149557	1.00[ASN][1000 genomes]
rs73149567	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149577	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149595	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149597	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151403	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151413	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151422	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151425	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151445	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151447	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151450	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151460	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151484	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151489	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151496	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153504	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153509	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153526	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153530	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153534	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153539	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153551	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153559	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153561	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153569	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153571	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153572	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153573	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153577	1.00[ASN][1000 genomes]
rs73153578	1.00[ASN][1000 genomes]
rs73153584	1.00[ASN][1000 genomes]
rs73153585	1.00[ASN][1000 genomes]
rs73153587	1.00[ASN][1000 genomes]
rs73153588	1.00[ASN][1000 genomes]
rs73153590	1.00[ASN][1000 genomes]
rs73153592	1.00[ASN][1000 genomes]
rs73153599	1.00[ASN][1000 genomes]
rs73155404	1.00[ASN][1000 genomes]
rs73155406	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73155441	1.00[ASN][1000 genomes]
rs7488252	1.00[ASN][1000 genomes]
rs7956163	1.00[ASN][1000 genomes]
rs7957993	1.00[ASN][1000 genomes]
rs7960966	1.00[ASN][1000 genomes]
rs7964174	1.00[ASN][1000 genomes]
rs7966041	1.00[ASN][1000 genomes]
rs7967097	1.00[ASN][1000 genomes]
rs7968024	1.00[ASN][1000 genomes]
rs7971746	1.00[ASN][1000 genomes]
rs7977442	0.92[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559539	chr12:82280797-82896218	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1041954	chr12:82314981-83008609	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv541550	chr12:82314981-83008609	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv832471	chr12:82578953-82755360	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv559541	chr12:82715210-83108395	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv899348	chr12:82744187-83169297	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:82740200-82751600	Weak transcription	Gastric	stomach
2	chr12:82742600-82751600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:82742600-82751600	Weak transcription	Spleen	Spleen
4	chr12:82742800-82751600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:82743800-82751600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:82743800-82751600	Weak transcription	Esophagus	oesophagus
7	chr12:82750200-82753600	Active TSS	Psoas Muscle	Psoas
8	chr12:82750400-82753000	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr12:82750600-82751600	Active TSS	Fetal Brain Female	brain
10	chr12:82750600-82753400	Active TSS	HepG2	liver
11	chr12:82750800-82751600	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr12:82750800-82751800	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr12:82750800-82751800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr12:82750800-82751800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:82750800-82751800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr12:82750800-82752000	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr12:82750800-82753000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:82750800-82753000	Active TSS	Lung	lung
19	chr12:82750800-82753000	Active TSS	Thymus	Thymus
20	chr12:82750800-82753200	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr12:82750800-82753200	Active TSS	NHLF	lung
22	chr12:82750800-82753400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:82750800-82753400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:82750800-82753400	Active TSS	HSMMtube	muscle
25	chr12:82750800-82753600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:82750800-82753600	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr12:82750800-82753600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:82751000-82751600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:82751000-82751600	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr12:82751000-82751600	Flanking Active TSS	Liver	Liver
31	chr12:82751000-82751600	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr12:82751000-82751600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr12:82751000-82751600	Flanking Active TSS	Fetal Lung	lung
34	chr12:82751000-82751600	Weak transcription	Pancreas	Pancrea
35	chr12:82751000-82751600	Weak transcription	Small Intestine	intestine
36	chr12:82751000-82751800	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr12:82751000-82751800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:82751000-82751800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:82751000-82751800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr12:82751000-82751800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:82751000-82751800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:82751000-82753000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:82751000-82753000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:82751000-82753000	Active TSS	Fetal Muscle Leg	muscle
45	chr12:82751000-82753000	Active TSS	Placenta	Placenta
46	chr12:82751000-82753000	Active TSS	Fetal Thymus	thymus
47	chr12:82751000-82753000	Active TSS	Left Ventricle	heart
48	chr12:82751000-82753000	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr12:82751000-82753000	Active TSS	Rectal Smooth Muscle	rectum
50	chr12:82751000-82753200	Active TSS	HUES48 Cell Line	embryonic stem cell

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