Variant report

Variant	rs7136476
Chromosome Location	chr12:31653715-31653716
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31477853..31479462-chr12:31651930..31653827,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139146	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1012154	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs10743757	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10743758	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[YRI][hapmap]
rs10743759	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771827	0.85[EUR][1000 genomes]
rs10771828	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10771832	1.00[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10771838	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10771843	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771844	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10771845	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10771846	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10843942	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10843947	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap]
rs10843958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10843959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10843963	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051418	1.00[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11051435	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11051437	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11051439	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11051441	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1150953	0.86[CHB][hapmap]
rs11615961	1.00[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1259235	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs1259236	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs1259355	0.94[ASN][1000 genomes]
rs1259428	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1259432	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1271128	0.93[ASN][1000 genomes]
rs1469673	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1677189	0.86[CHB][hapmap]
rs1716216	0.86[CHB][hapmap]
rs1996693	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2116704	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2352048	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2568884	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2617190	0.83[EUR][1000 genomes]
rs2617200	0.86[CHB][hapmap]
rs2682697	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs2682700	0.82[EUR][1000 genomes]
rs2888762	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3803113	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3844573	0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3850965	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3853626	0.82[EUR][1000 genomes]
rs3898368	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4482118	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4930980	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931488	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4931501	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4931506	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4931507	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6416254	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6487989	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6487992	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6487996	0.87[EUR][1000 genomes]
rs66521153	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs708200	0.84[CEU][hapmap]
rs708209	0.96[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs7133082	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7134365	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7135856	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7136943	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7137406	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7294574	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7302698	1.00[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7303447	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7303848	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7307593	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307616	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313118	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7313158	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7313689	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7314417	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs793146	0.83[EUR][1000 genomes]
rs793154	0.83[EUR][1000 genomes]
rs793157	0.82[EUR][1000 genomes]
rs793176	0.85[CHB][hapmap]
rs793180	0.83[EUR][1000 genomes]
rs793184	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs7954023	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7954595	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7957026	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7959877	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7962896	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7963161	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7967832	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7968291	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7974437	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs7975761	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7976644	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7977453	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs899159	0.85[CEU][hapmap]
rs9738834	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv898965	chr12:31631819-31771689	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31583400-31662000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:31628800-31655800	Weak transcription	Gastric	stomach
3	chr12:31630400-31655000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:31636200-31663000	Weak transcription	Aorta	Aorta
5	chr12:31639000-31655800	Weak transcription	Left Ventricle	heart
6	chr12:31642600-31670000	Weak transcription	Fetal Lung	lung
7	chr12:31643600-31658800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:31644400-31659400	Weak transcription	Pancreas	Pancrea
9	chr12:31645600-31658000	Weak transcription	Fetal Intestine Small	intestine
10	chr12:31646000-31659400	Weak transcription	NH-A	brain
11	chr12:31646000-31659800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:31646200-31657400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:31647400-31660000	Weak transcription	Psoas Muscle	Psoas
14	chr12:31647600-31661200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:31647800-31661400	Weak transcription	Brain Angular Gyrus	brain
16	chr12:31648800-31657200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:31649000-31654000	Weak transcription	Primary B cells from cord blood	blood
18	chr12:31649200-31653800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:31649400-31654800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:31649400-31656600	Weak transcription	NHEK	skin
21	chr12:31650800-31655800	Weak transcription	Ovary	ovary
22	chr12:31650800-31660800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:31651200-31656200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr12:31651400-31653800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:31651600-31655800	Weak transcription	Liver	Liver
26	chr12:31651600-31661400	Weak transcription	HepG2	liver
27	chr12:31651600-31661800	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:31652000-31659600	Weak transcription	Fetal Heart	heart
29	chr12:31652600-31657400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:31653000-31655600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:31653000-31656400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:31653000-31657600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:31653200-31656000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:31653200-31657600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:31653400-31654200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr12:31653400-31654200	Enhancers	GM12878-XiMat	blood
37	chr12:31653400-31655400	Weak transcription	A549	lung

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