Variant report

Variant	rs731512
Chromosome Location	chr11:120089886-120089887
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120080610..120089931-chr11:120105398..120112199,18	K562	blood:
2	chr11:120087659..120092163-chr11:120106045..120111255,7	K562	blood:
3	chr11:120088424..120091961-chr11:120094010..120097522,6	K562	blood:
4	chr11:120089189..120092047-chr11:120097539..120099779,2	K562	blood:
5	chr11:120082173..120084864-chr11:120088352..120091615,4	MCF-7	breast:
6	chr11:120040035..120042877-chr11:120088247..120091000,2	K562	blood:

Variant related genes	Relation type
ENSG00000137709	Chromatin interaction
ENSG00000184232	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10790370	0.87[ASN][1000 genomes]
rs11217768	0.92[ASN][1000 genomes]
rs11217771	0.99[ASN][1000 genomes]
rs12222405	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12223954	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12225131	0.86[ASN][1000 genomes]
rs1551240	0.87[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1551241	0.92[ASN][1000 genomes]
rs1551242	0.92[ASN][1000 genomes]
rs41460849	0.87[TSI][hapmap]
rs56667128	0.99[ASN][1000 genomes]
rs72645479	0.90[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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120082800-120091800	Enhancers	Placenta	Placenta
2	chr11:120082800-120095000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:120083800-120094000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr11:120084000-120092200	Weak transcription	Fetal Thymus	thymus
5	chr11:120084200-120093000	Genic enhancers	Fetal Muscle Leg	muscle
6	chr11:120084200-120102600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:120084400-120093000	Genic enhancers	Fetal Intestine Large	intestine
8	chr11:120084600-120091400	Genic enhancers	Fetal Stomach	stomach
9	chr11:120084600-120091600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:120084600-120093200	Genic enhancers	Fetal Intestine Small	intestine
11	chr11:120084600-120095400	Weak transcription	Fetal Kidney	kidney
12	chr11:120084800-120092000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr11:120085000-120092800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr11:120085000-120093200	Genic enhancers	Fetal Muscle Trunk	muscle
15	chr11:120085200-120092400	Enhancers	Ovary	ovary
16	chr11:120085800-120091000	Enhancers	Liver	Liver
17	chr11:120086000-120092800	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr11:120086200-120090600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:120086200-120090800	Enhancers	Fetal Lung	lung
20	chr11:120086400-120090000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:120086400-120091600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
22	chr11:120086400-120092600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr11:120086400-120097000	Weak transcription	NHEK	skin
24	chr11:120086600-120095800	Weak transcription	NH-A	brain
25	chr11:120086800-120090200	Weak transcription	HSMM	muscle
26	chr11:120086800-120090600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:120087000-120090200	Weak transcription	NHDF-Ad	bronchial
28	chr11:120087200-120093200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:120087600-120090200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:120087600-120094000	Enhancers	Stomach Mucosa	stomach
31	chr11:120087800-120090000	Weak transcription	K562	blood
32	chr11:120088000-120090000	Weak transcription	Left Ventricle	heart
33	chr11:120088000-120092000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:120088200-120092600	Enhancers	Right Ventricle	heart
35	chr11:120088400-120090400	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr11:120088400-120090600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
37	chr11:120088400-120090800	Enhancers	Small Intestine	intestine
38	chr11:120088400-120091000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:120088400-120091000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:120088400-120091000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:120088400-120091000	Enhancers	NHLF	lung
42	chr11:120088400-120091400	Enhancers	Brain Angular Gyrus	brain
43	chr11:120088400-120091400	Genic enhancers	Rectal Mucosa Donor 29	rectum
44	chr11:120088400-120091600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:120088400-120091800	Enhancers	Rectal Smooth Muscle	rectum
46	chr11:120088400-120092000	Genic enhancers	Spleen	Spleen
47	chr11:120088400-120092600	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr11:120088400-120092800	Enhancers	Brain Anterior Caudate	brain
49	chr11:120088400-120092800	Enhancers	Brain Cingulate Gyrus	brain
50	chr11:120088400-120092800	Enhancers	Brain Substantia Nigra	brain

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