Variant report

Variant	rs4763825
Chromosome Location	chr12:12578786-12578787
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12578734..12582406-chr12:12583548..12588483,5	MCF-7	breast:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1019340	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1019341	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1030069	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10459098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743982	0.81[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10743985	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772563	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772566	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs10772567	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs10845530	0.88[CHB][hapmap]
rs10845533	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845537	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10845539	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845540	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10845541	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845542	0.91[ASN][1000 genomes]
rs10845544	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs10845545	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10845546	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10845551	0.89[CHB][hapmap]
rs11054894	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11054914	0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs11532310	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11561172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11609375	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11829916	0.85[ASN][1000 genomes]
rs1468876	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1544682	0.91[ASN][1000 genomes]
rs2160586	1.00[CHB][hapmap];0.94[CHD][hapmap];0.80[MEX][hapmap];0.91[ASN][1000 genomes]
rs2193269	0.82[ASN][1000 genomes]
rs2193270	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs2216264	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2417187	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28853875	0.82[ASN][1000 genomes]
rs35908046	0.86[EUR][1000 genomes]
rs3751261	0.83[CHB][hapmap]
rs3925170	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4390432	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4488294	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4547192	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763826	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763829	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4763830	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56089442	0.82[ASN][1000 genomes]
rs56701819	0.87[ASN][1000 genomes]
rs56796062	0.81[ASN][1000 genomes]
rs56915387	0.87[ASN][1000 genomes]
rs60253266	0.82[ASN][1000 genomes]
rs61543155	0.86[ASN][1000 genomes]
rs6488526	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132512	0.80[GIH][hapmap];0.89[TSI][hapmap]
rs7135655	0.84[JPT][hapmap]
rs7295080	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7300150	0.81[ASN][1000 genomes]
rs73061463	0.83[ASN][1000 genomes]
rs7309503	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7309982	0.84[JPT][hapmap]
rs7310012	0.81[CEU][hapmap];0.81[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7311363	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7311364	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7312010	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7313825	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7315626	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7953025	0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7954752	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961703	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7967038	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7967111	0.84[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7967230	0.84[JPT][hapmap];0.84[MEX][hapmap]
rs7967466	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7969020	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7969252	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969270	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7969849	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969984	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs879445	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs888200	0.85[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9645752	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv1812889	chr12:12510842-12593406	Enhancers Flanking Active TSS Strong transcription Weak transcription 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	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12558000-12586000	Weak transcription	Pancreas	Pancrea
2	chr12:12565200-12585000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:12572600-12588400	Weak transcription	Primary T cells from cord blood	blood
4	chr12:12577400-12582200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:12577400-12582600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:12577600-12580600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:12577600-12583800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:12577800-12578800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:12577800-12579200	Enhancers	Brain Anterior Caudate	brain
10	chr12:12577800-12579200	Enhancers	Osteobl	bone
11	chr12:12577800-12580000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:12577800-12581800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:12577800-12584000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:12578000-12579000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr12:12578000-12579200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:12578000-12579400	Enhancers	Psoas Muscle	Psoas
17	chr12:12578000-12579400	Enhancers	HUVEC	blood vessel
18	chr12:12578000-12580000	Enhancers	Aorta	Aorta
19	chr12:12578200-12579400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:12578200-12579600	Enhancers	Stomach Mucosa	stomach
21	chr12:12578200-12588600	Weak transcription	Primary B cells from cord blood	blood
22	chr12:12578400-12578800	Enhancers	Brain Hippocampus Middle	brain
23	chr12:12578400-12578800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:12578400-12578800	Weak transcription	NHLF	lung
25	chr12:12578400-12579000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:12578400-12579200	Enhancers	HSMM	muscle
27	chr12:12578400-12579400	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr12:12578400-12586600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:12578400-12588200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr12:12578600-12578800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:12578600-12579000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr12:12578600-12579200	Enhancers	Rectal Smooth Muscle	rectum
33	chr12:12578600-12579200	Enhancers	HSMMtube	muscle
34	chr12:12578600-12579400	Enhancers	HepG2	liver
35	chr12:12578600-12580800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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