Variant report

Variant	rs12274790
Chromosome Location	chr11:35374571-35374572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:35373926..35376824-chr11:35378507..35382009,3	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11033078	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11033085	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11033088	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs11033093	0.81[TSI][hapmap]
rs12275544	0.82[YRI][hapmap]
rs12279038	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12290517	1.00[ASN][1000 genomes]
rs12294219	0.80[TSI][hapmap]
rs1320443	0.81[TSI][hapmap]
rs2273686	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2281634	0.82[ASW][hapmap]
rs3847618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3888947	0.82[ASW][hapmap];0.85[CEU][hapmap]
rs3915513	0.85[AFR][1000 genomes]
rs4110478	0.88[EUR][1000 genomes]
rs4996048	0.88[EUR][1000 genomes]
rs59377579	1.00[ASN][1000 genomes]
rs61454047	0.97[ASN][1000 genomes]
rs7111949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114489	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127728	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]

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	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv832120	chr11:35277410-35490304	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2758264	chr11:35319320-35480522	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2759819	chr11:35319320-35480522	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35367000-35385400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr11:35367200-35380200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:35368600-35379800	Weak transcription	Brain Anterior Caudate	brain
4	chr11:35370200-35380800	Weak transcription	Aorta	Aorta
5	chr11:35370200-35384200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:35370600-35376400	Weak transcription	HepG2	liver
7	chr11:35371400-35377400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:35371800-35376800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:35371800-35376800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:35372000-35375000	Enhancers	K562	blood
11	chr11:35372200-35376800	Weak transcription	Primary T cells from cord blood	blood
12	chr11:35372200-35376800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr11:35372400-35376800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr11:35372400-35376800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:35372600-35374600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:35372600-35374600	Enhancers	Osteobl	bone
17	chr11:35372600-35377200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:35372600-35377600	Enhancers	NHDF-Ad	bronchial
19	chr11:35372800-35376800	Weak transcription	GM12878-XiMat	blood
20	chr11:35372800-35377200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:35373000-35380400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:35373200-35375000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:35373400-35374600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:35373400-35374600	Enhancers	NHEK	skin
25	chr11:35373400-35375000	Enhancers	HMEC	breast
26	chr11:35373400-35376400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr11:35373600-35374800	Enhancers	Fetal Heart	heart
28	chr11:35373600-35376400	Weak transcription	HSMM	muscle
29	chr11:35373800-35374600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr11:35374000-35374600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:35374000-35375000	Enhancers	Esophagus	oesophagus
32	chr11:35374000-35375000	Enhancers	Left Ventricle	heart
33	chr11:35374200-35374600	Enhancers	Liver	Liver
34	chr11:35374200-35376200	Weak transcription	Brain Hippocampus Middle	brain
35	chr11:35374400-35375200	Enhancers	Hela-S3	cervix
36	chr11:35374400-35375800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:35374400-35376000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:35374400-35376200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:35374400-35376200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr11:35374400-35376200	Weak transcription	Right Atrium	heart
41	chr11:35374400-35376200	Weak transcription	NH-A	brain
42	chr11:35374400-35376600	Weak transcription	Brain Angular Gyrus	brain
43	chr11:35374400-35379000	Weak transcription	NHLF	lung
44	chr11:35374400-35379200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr11:35374400-35381400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr11:35374400-35381600	Weak transcription	Pancreas	Pancrea
47	chr11:35374400-35384600	Weak transcription	Psoas Muscle	Psoas
48	chr11:35374400-35384600	Weak transcription	Right Ventricle	heart

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