Variant report

Variant	rs7930619
Chromosome Location	chr11:86262117-86262118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10501627	1.00[JPT][hapmap]
rs12790474	1.00[JPT][hapmap]
rs12804997	1.00[JPT][hapmap]
rs1541309	1.00[JPT][hapmap]
rs4382935	1.00[JPT][hapmap]
rs4944571	1.00[JPT][hapmap]
rs4944576	1.00[JPT][hapmap]
rs7125945	1.00[JPT][hapmap]

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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86237800-86262200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:86256600-86262400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:86257800-86262200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:86258800-86262200	Enhancers	HUVEC	blood vessel
5	chr11:86258800-86263400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr11:86258800-86263400	Enhancers	Fetal Brain Male	brain
7	chr11:86258800-86263400	Enhancers	Psoas Muscle	Psoas
8	chr11:86258800-86264600	Enhancers	Right Atrium	heart
9	chr11:86259000-86263200	Weak transcription	Brain Germinal Matrix	brain
10	chr11:86259200-86262200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:86259200-86262200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:86259200-86262400	Weak transcription	Ovary	ovary
13	chr11:86259200-86264400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr11:86259400-86262200	Weak transcription	A549	lung
15	chr11:86259400-86262600	Weak transcription	Fetal Heart	heart
16	chr11:86259600-86262200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:86259600-86262200	Weak transcription	HSMM	muscle
18	chr11:86259600-86262600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:86259600-86263000	Weak transcription	Fetal Thymus	thymus
20	chr11:86259600-86269800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:86259600-86270400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:86259600-86270800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:86259800-86270800	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:86260000-86262200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:86260000-86262200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:86260000-86262200	Weak transcription	HMEC	breast
27	chr11:86260000-86262200	Weak transcription	HSMMtube	muscle
28	chr11:86260000-86262400	Weak transcription	Fetal Lung	lung
29	chr11:86260000-86262600	Weak transcription	Colonic Mucosa	Colon
30	chr11:86260000-86262800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:86260000-86263400	Weak transcription	Fetal Stomach	stomach
32	chr11:86260000-86264000	Enhancers	Fetal Intestine Small	intestine
33	chr11:86260000-86266200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr11:86260000-86268800	Weak transcription	Fetal Kidney	kidney
35	chr11:86260000-86270200	Weak transcription	Brain Angular Gyrus	brain
36	chr11:86260000-86270200	Weak transcription	Brain Substantia Nigra	brain
37	chr11:86260200-86262400	Weak transcription	NHEK	skin
38	chr11:86260200-86264000	Weak transcription	Brain Anterior Caudate	brain
39	chr11:86260400-86262200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:86260400-86262400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:86260400-86262600	Weak transcription	Aorta	Aorta
42	chr11:86260400-86263400	Enhancers	Colon Smooth Muscle	Colon
43	chr11:86260400-86264200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr11:86260600-86262200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:86260800-86262200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:86260800-86262200	Weak transcription	NHDF-Ad	bronchial
47	chr11:86260800-86262400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:86260800-86265000	Enhancers	Fetal Intestine Large	intestine
49	chr11:86260800-86265000	Enhancers	Left Ventricle	heart
50	chr11:86260800-86265000	Enhancers	Pancreas	Pancrea

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