Variant report

Variant	rs2216264
Chromosome Location	chr12:12590782-12590783
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	chr12:12590405..12593794-chr12:12593958..12596387,3	MCF-7	breast:
2	chr12:12586017..12588316-chr12:12590751..12594080,4	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1019340	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1019341	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1030069	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10459098	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10743982	0.80[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10743985	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10772563	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10772566	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs10772567	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs10845530	0.89[CHB][hapmap]
rs10845533	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10845537	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10845539	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10845540	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10845541	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10845542	0.90[ASN][1000 genomes]
rs10845544	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs10845545	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10845546	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10845551	0.89[CHB][hapmap]
rs11054894	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11054914	0.83[EUR][1000 genomes]
rs11532310	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11561172	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11609375	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11829916	0.83[ASN][1000 genomes]
rs1468876	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1544682	0.90[ASN][1000 genomes]
rs2160586	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs2193269	0.82[ASN][1000 genomes]
rs2193270	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs2417187	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28853875	0.82[ASN][1000 genomes]
rs35908046	0.81[EUR][1000 genomes]
rs3751261	0.83[CHB][hapmap]
rs3925170	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4390432	0.95[ASN][1000 genomes]
rs4488294	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4547192	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4763825	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]
rs4763826	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4763829	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4763830	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56089442	0.83[ASN][1000 genomes]
rs56701819	0.85[ASN][1000 genomes]
rs56796062	0.82[ASN][1000 genomes]
rs56915387	0.85[ASN][1000 genomes]
rs57348917	0.80[ASN][1000 genomes]
rs60253266	0.80[ASN][1000 genomes]
rs61543155	0.84[ASN][1000 genomes]
rs6488526	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7132512	0.81[CEU][hapmap]
rs7295080	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7300150	0.82[ASN][1000 genomes]
rs73061463	0.84[ASN][1000 genomes]
rs7309503	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7310012	0.80[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7311363	0.86[ASN][1000 genomes]
rs7311364	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7312010	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7313825	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7315626	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7953025	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7954752	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7961703	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7967038	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7967111	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7967466	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7969020	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7969252	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7969270	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7969849	0.88[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]
rs7969984	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs879445	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs888200	0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9645752	0.80[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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12582600-12592000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr12:12582600-12595000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:12582600-12599400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:12582800-12592600	Weak transcription	NH-A	brain
5	chr12:12582800-12596400	Weak transcription	Spleen	Spleen
6	chr12:12583000-12594000	Weak transcription	HSMMtube	muscle
7	chr12:12584000-12598600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:12584200-12592200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:12584200-12592800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:12584200-12593200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:12584400-12592000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:12585400-12593200	Weak transcription	Small Intestine	intestine
13	chr12:12585600-12592000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:12585600-12592000	Weak transcription	HUVEC	blood vessel
15	chr12:12585600-12595200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:12585800-12595400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:12586000-12593200	Weak transcription	Liver	Liver
18	chr12:12586000-12594200	Weak transcription	Hela-S3	cervix
19	chr12:12586000-12595000	Weak transcription	Adipose Nuclei	Adipose
20	chr12:12586200-12595000	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:12586200-12595400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:12586600-12594200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:12586800-12594000	Weak transcription	Right Ventricle	heart
24	chr12:12587000-12590800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr12:12587000-12591800	Weak transcription	NHEK	skin
26	chr12:12587000-12592200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:12587000-12592600	Weak transcription	Stomach Mucosa	stomach
28	chr12:12587000-12593800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:12587000-12594800	Weak transcription	Aorta	Aorta
30	chr12:12587000-12594800	Weak transcription	Esophagus	oesophagus
31	chr12:12587000-12594800	Weak transcription	Placenta	Placenta
32	chr12:12587200-12593200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:12587200-12593800	Weak transcription	Fetal Intestine Small	intestine
34	chr12:12587200-12594000	Weak transcription	Brain Angular Gyrus	brain
35	chr12:12587200-12594000	Weak transcription	Lung	lung
36	chr12:12587200-12594000	Weak transcription	Psoas Muscle	Psoas
37	chr12:12587200-12594200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr12:12587200-12595200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:12587200-12596400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr12:12587200-12596400	Weak transcription	Gastric	stomach
41	chr12:12587400-12592200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:12587400-12592600	Weak transcription	Thymus	Thymus
43	chr12:12587400-12593200	Weak transcription	Fetal Muscle Leg	muscle
44	chr12:12587400-12593800	Weak transcription	Pancreas	Pancrea
45	chr12:12587400-12594000	Weak transcription	Brain Anterior Caudate	brain
46	chr12:12587400-12594200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:12587400-12594800	Weak transcription	NHLF	lung
48	chr12:12587400-12595000	Weak transcription	NHDF-Ad	bronchial
49	chr12:12587400-12595400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:12587400-12595400	Weak transcription	Stomach Smooth Muscle	stomach

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