Variant report

Variant	rs7139145
Chromosome Location	chr12:121327623-121327624
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121317330..121318863-chr12:121327465..121328985,2	MCF-7	breast:
2	chr12:121322045..121323969-chr12:121325111..121327661,2	K562	blood:
3	chr12:121326076..121329274-chr12:121333779..121337730,3	MCF-7	breast:
4	chr12:121326911..121329389-chr12:121341221..121344102,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157837	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10160872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1027556	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1039302	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10431387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10437838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10459142	0.93[ASN][1000 genomes]
rs10774568	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap]
rs10774569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10774570	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10774571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10774573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10774575	0.93[ASN][1000 genomes]
rs10774576	0.93[ASN][1000 genomes]
rs10849786	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap]
rs10849788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs10849793	0.84[ASN][1000 genomes]
rs10849794	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10849800	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10849803	0.91[EUR][1000 genomes]
rs10849805	0.88[CEU][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10849806	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10849810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849812	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849813	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849814	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10849815	0.89[ASN][1000 genomes]
rs10849816	0.89[ASN][1000 genomes]
rs11065259	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11065272	0.83[ASN][1000 genomes]
rs11065298	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065313	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065319	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065320	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065321	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1151849	0.86[YRI][hapmap]
rs1151862	0.85[YRI][hapmap]
rs11829904	0.83[YRI][hapmap]
rs11833706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12231343	0.89[ASN][1000 genomes]
rs12310161	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12423697	0.83[EUR][1000 genomes]
rs13746	0.83[YRI][hapmap]
rs2049211	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2393718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3213568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3213569	1.00[CEU][hapmap]
rs3213571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs34433264	0.90[ASN][1000 genomes]
rs3809314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs471688	0.87[YRI][hapmap]
rs531782	0.93[YRI][hapmap]
rs56137011	0.83[EUR][1000 genomes]
rs56161401	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs610694	0.86[YRI][hapmap]
rs624216	0.85[YRI][hapmap]
rs625228	0.93[YRI][hapmap]
rs6489780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6489781	0.84[ASN][1000 genomes]
rs6489782	1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.84[ASN][1000 genomes]
rs7131886	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7135147	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs715319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7296632	0.91[ASN][1000 genomes]
rs7298639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306083	0.88[EUR][1000 genomes]
rs7315439	0.93[ASN][1000 genomes]
rs7316450	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73224325	0.87[EUR][1000 genomes]
rs73229156	0.88[EUR][1000 genomes]
rs7954254	0.90[EUR][1000 genomes]
rs7965332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7977343	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121288200-121339600	Weak transcription	Hela-S3	cervix
2	chr12:121294200-121340400	Weak transcription	HSMM	muscle
3	chr12:121297400-121339800	Weak transcription	A549	lung
4	chr12:121300600-121328800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:121302000-121328800	Weak transcription	Fetal Intestine Large	intestine
6	chr12:121304200-121329800	Weak transcription	K562	blood
7	chr12:121304600-121339800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:121306600-121331400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:121310800-121331400	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:121312600-121339800	Weak transcription	Brain Germinal Matrix	brain
11	chr12:121312600-121339800	Weak transcription	NHDF-Ad	bronchial
12	chr12:121313000-121332600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:121313400-121330000	Weak transcription	Psoas Muscle	Psoas
14	chr12:121313400-121332400	Weak transcription	Lung	lung
15	chr12:121313400-121339800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:121313400-121339800	Weak transcription	Pancreas	Pancrea
17	chr12:121315400-121332200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:121315800-121331400	Weak transcription	Fetal Stomach	stomach
19	chr12:121317200-121333400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:121317400-121338000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:121317600-121331400	Weak transcription	HepG2	liver
22	chr12:121317600-121339600	Weak transcription	HMEC	breast
23	chr12:121317800-121339600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:121318200-121339600	Weak transcription	NHEK	skin
25	chr12:121318200-121340400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:121320800-121328600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:121320800-121328800	Weak transcription	Liver	Liver
28	chr12:121323200-121340000	Weak transcription	Fetal Lung	lung
29	chr12:121323400-121328800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:121323600-121330000	Weak transcription	Brain Angular Gyrus	brain
31	chr12:121323600-121330000	Weak transcription	Right Ventricle	heart
32	chr12:121323600-121331400	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:121323600-121332200	Weak transcription	Stomach Mucosa	stomach
34	chr12:121323600-121340600	Weak transcription	Aorta	Aorta
35	chr12:121324000-121340400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:121324400-121328600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:121324400-121328600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:121324400-121330000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:121324400-121330000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr12:121324400-121331400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:121324400-121334000	Weak transcription	Small Intestine	intestine
42	chr12:121324400-121339600	Weak transcription	Brain Substantia Nigra	brain
43	chr12:121324400-121339800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr12:121324600-121330000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:121324600-121330000	Weak transcription	Dnd41	blood
46	chr12:121324600-121339400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr12:121324800-121328600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr12:121324800-121329600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:121324800-121329800	Weak transcription	Primary B cells from cord blood	blood
50	chr12:121325000-121330000	Weak transcription	Primary hematopoietic stem cells	blood

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