Variant report

Variant	rs10880761
Chromosome Location	chr12:45617864-45617865
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45613975..45618238-chr12:45622905..45626980,4	MCF-7	breast:
2	chr12:45608098..45612348-chr12:45617340..45626325,10	K562	blood:
3	chr12:45608650..45611260-chr12:45617803..45621222,4	K562	blood:
4	chr12:45617264..45618883-chr12:45748114..45750683,2	MCF-7	breast:
5	chr12:45616923..45618568-chr12:46121263..46124196,2	MCF-7	breast:
6	chr12:45616751..45618996-chr12:45620407..45623047,2	K562	blood:

Variant related genes	Relation type
ENSG00000273015	Chromatin interaction
ENSG00000177119	Chromatin interaction
ENSG00000134297	Chromatin interaction
ENSG00000189079	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs1015626	0.86[JPT][hapmap]
rs10437984	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10459293	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs10459294	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10492284	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs10748412	0.91[ASN][1000 genomes]
rs10785557	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785566	0.86[JPT][hapmap]
rs10880755	0.86[JPT][hapmap]
rs10880757	0.84[AMR][1000 genomes]
rs10880760	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880762	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880763	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880764	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182898	0.87[AMR][1000 genomes]
rs11182905	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182908	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11182912	0.87[EUR][1000 genomes]
rs11182913	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11182916	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs11182917	0.89[EUR][1000 genomes]
rs11182918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182919	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11182921	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11182922	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11182923	0.89[EUR][1000 genomes]
rs11182927	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11182931	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs11182935	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11182936	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182938	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182939	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182940	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11182941	0.89[EUR][1000 genomes]
rs11182943	0.89[EUR][1000 genomes]
rs11182944	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182946	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182947	0.87[EUR][1000 genomes]
rs11182949	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11561532	0.89[EUR][1000 genomes]
rs11612203	0.89[EUR][1000 genomes]
rs11612233	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11615850	0.89[EUR][1000 genomes]
rs12227678	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs12230322	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12231753	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12299174	0.87[AMR][1000 genomes]
rs12320168	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12320437	0.87[EUR][1000 genomes]
rs12322087	0.87[AMR][1000 genomes]
rs12814332	0.87[EUR][1000 genomes]
rs12815115	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12815577	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12822746	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12828052	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17095551	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17095557	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs1913692	0.86[JPT][hapmap]
rs2052602	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2052603	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2408184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2408185	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34024171	0.89[EUR][1000 genomes]
rs35054776	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs35588430	0.87[AMR][1000 genomes]
rs35660715	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759077	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3759080	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759081	0.89[EUR][1000 genomes]
rs3759082	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3782131	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4768085	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4768601	0.81[JPT][hapmap]
rs57797434	0.89[EUR][1000 genomes]
rs58444879	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs61923810	0.89[EUR][1000 genomes]
rs61923825	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61923830	0.89[EUR][1000 genomes]
rs7135988	0.81[JPT][hapmap]
rs7138247	0.86[JPT][hapmap]
rs7138983	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs728590	0.86[JPT][hapmap]
rs7304481	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7307262	0.86[JPT][hapmap]
rs7309615	0.86[JPT][hapmap]
rs7954282	0.81[AMR][1000 genomes]
rs7956033	0.87[ASN][1000 genomes]
rs7963038	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7963057	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7964635	0.83[ASN][1000 genomes]
rs7965430	0.86[JPT][hapmap]
rs7971900	0.86[JPT][hapmap]
rs9739519	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45611000-45624800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:45611200-45628000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:45611600-45629400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:45611800-45624800	Weak transcription	HSMM	muscle
5	chr12:45612200-45621200	Weak transcription	Fetal Brain Female	brain
6	chr12:45612400-45624800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr12:45612400-45624800	Weak transcription	Osteobl	bone
8	chr12:45612400-45628000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:45612600-45621200	Weak transcription	Brain Germinal Matrix	brain
10	chr12:45613200-45622400	Weak transcription	Primary B cells from cord blood	blood
11	chr12:45613800-45621200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:45613800-45621200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr12:45613800-45624200	Weak transcription	HUVEC	blood vessel
14	chr12:45613800-45625000	Weak transcription	NHLF	lung
15	chr12:45613800-45625600	Weak transcription	Right Ventricle	heart
16	chr12:45613800-45628400	Weak transcription	Lung	lung
17	chr12:45613800-45628800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:45613800-45635800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr12:45613800-45638000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:45613800-45638200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:45614000-45621800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr12:45614000-45621800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:45614000-45624600	Weak transcription	NHDF-Ad	bronchial
24	chr12:45614000-45625200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:45614000-45625400	Weak transcription	Brain Substantia Nigra	brain
26	chr12:45614000-45626400	Weak transcription	Left Ventricle	heart
27	chr12:45614000-45627600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:45614000-45637600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:45614200-45619600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:45614200-45621000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:45614200-45625000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:45614200-45625000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:45614400-45619800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:45614400-45621000	Weak transcription	Fetal Heart	heart
35	chr12:45614400-45621400	Weak transcription	Brain Anterior Caudate	brain
36	chr12:45614400-45624800	Weak transcription	HepG2	liver
37	chr12:45614400-45624800	Weak transcription	NH-A	brain
38	chr12:45614400-45628800	Weak transcription	Spleen	Spleen
39	chr12:45614400-45629000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr12:45614400-45639600	Weak transcription	Dnd41	blood
41	chr12:45614400-45650200	Weak transcription	Primary T cells from cord blood	blood
42	chr12:45614600-45625000	Weak transcription	Hela-S3	cervix
43	chr12:45614800-45619200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:45614800-45622200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:45614800-45622600	Weak transcription	Fetal Stomach	stomach
46	chr12:45614800-45627400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:45614800-45629000	Weak transcription	Brain Hippocampus Middle	brain
48	chr12:45615000-45625400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:45615000-45628400	Weak transcription	Esophagus	oesophagus
50	chr12:45615200-45621200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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