Variant report

Variant	rs12292131
Chromosome Location	chr11:35278095-35278096
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	chr11:35275813..35278211-chr11:35282248..35285772,3	MCF-7	breast:
2	chr11:35268801..35270890-chr11:35277985..35280656,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11821102	0.88[JPT][hapmap]
rs12269851	1.00[GIH][hapmap]
rs12271153	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[ASN][1000 genomes]
rs12273257	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12290877	0.93[ASN][1000 genomes]
rs2236274	0.93[ASN][1000 genomes]
rs3794092	0.94[CHD][hapmap];1.00[GIH][hapmap]
rs7124363	1.00[GIH][hapmap]
rs7124645	1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv541004	chr11:35122694-35297414	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35264400-35281800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:35264800-35281800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr11:35265800-35305800	Weak transcription	HepG2	liver
4	chr11:35269400-35281800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:35270200-35278200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr11:35270200-35292600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:35270400-35285400	Weak transcription	Brain Germinal Matrix	brain
8	chr11:35270400-35296400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:35270400-35307000	Weak transcription	Fetal Brain Male	brain
10	chr11:35270600-35281000	Weak transcription	Fetal Brain Female	brain
11	chr11:35270600-35284400	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:35271200-35286400	Weak transcription	Pancreas	Pancrea
13	chr11:35274600-35287400	Weak transcription	HSMMtube	muscle
14	chr11:35275000-35281800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:35275400-35281800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:35275800-35281000	Weak transcription	NHDF-Ad	bronchial
17	chr11:35275800-35281200	Weak transcription	NHLF	lung
18	chr11:35275800-35281400	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:35276000-35281000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:35277000-35278600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:35277000-35278600	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr11:35277000-35279000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:35277000-35282000	Weak transcription	Aorta	Aorta
24	chr11:35277200-35282000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:35277400-35278800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:35277400-35282400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:35277600-35278600	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr11:35277600-35278800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:35277600-35280000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr11:35277600-35280000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr11:35277600-35280000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr11:35277800-35278200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:35277800-35278200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:35277800-35278400	Enhancers	GM12878-XiMat	blood
35	chr11:35277800-35278400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr11:35277800-35280800	Enhancers	Primary T cells from cord blood	blood
37	chr11:35277800-35286800	Weak transcription	Liver	Liver
38	chr11:35278000-35278400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:35278000-35279800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr11:35278000-35279800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:35278000-35280200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr11:35278000-35280400	Enhancers	Primary T cells fromperipheralblood	blood

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