Variant report

Variant	rs7948709
Chromosome Location	chr11:36185060-36185061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10836513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10836514	0.89[ASN][1000 genomes]
rs11033473	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12269916	0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs12282945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12417496	0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs12417511	0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs12576371	0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs16926221	0.84[JPT][hapmap]
rs35567395	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4612777	0.82[ASN][1000 genomes]
rs4755439	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7117510	0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs7929112	0.87[ASN][1000 genomes]
rs7933303	0.82[ASN][1000 genomes]
rs7943612	0.82[ASN][1000 genomes]
rs7951966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv897225	chr11:36136912-36244190	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36171600-36187800	Weak transcription	Spleen	Spleen
2	chr11:36172600-36190400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:36178200-36186000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:36178200-36187200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:36179200-36185600	Weak transcription	NHEK	skin
6	chr11:36179400-36185600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:36179400-36185800	Weak transcription	HSMM	muscle
8	chr11:36179600-36193000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:36181200-36187800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr11:36181200-36188000	Enhancers	Fetal Lung	lung
11	chr11:36181400-36186400	Enhancers	Fetal Muscle Leg	muscle
12	chr11:36181800-36185600	Weak transcription	Lung	lung
13	chr11:36183000-36187800	Enhancers	Fetal Stomach	stomach
14	chr11:36183200-36185200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:36183200-36185400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr11:36183200-36186400	Enhancers	HSMMtube	muscle
17	chr11:36183400-36185200	Enhancers	Brain Cingulate Gyrus	brain
18	chr11:36183400-36185400	Enhancers	Colon Smooth Muscle	Colon
19	chr11:36183400-36187800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr11:36183800-36185200	Enhancers	Adipose Nuclei	Adipose
21	chr11:36183800-36185600	Flanking Active TSS	Fetal Brain Female	brain
22	chr11:36183800-36185600	Enhancers	Fetal Kidney	kidney
23	chr11:36183800-36185800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:36183800-36185800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:36183800-36186000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:36183800-36186200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:36183800-36186400	Enhancers	Ovary	ovary
28	chr11:36184000-36185200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:36184000-36185200	Enhancers	Brain Substantia Nigra	brain
30	chr11:36184000-36185200	Flanking Active TSS	Fetal Heart	heart
31	chr11:36184000-36185200	Enhancers	Stomach Smooth Muscle	stomach
32	chr11:36184000-36185400	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr11:36184000-36185800	Enhancers	Brain Anterior Caudate	brain
34	chr11:36184000-36186400	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr11:36184000-36186400	Enhancers	Right Atrium	heart
36	chr11:36184200-36185200	Enhancers	Fetal Intestine Small	intestine
37	chr11:36184200-36185800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:36184200-36185800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr11:36184200-36185800	Weak transcription	NHLF	lung
40	chr11:36184200-36186000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:36184400-36185600	Weak transcription	NHDF-Ad	bronchial
42	chr11:36184400-36186400	Enhancers	Brain Angular Gyrus	brain
43	chr11:36184400-36186800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr11:36184400-36189200	Weak transcription	Pancreas	Pancrea
45	chr11:36184400-36220000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:36184600-36185800	Weak transcription	Gastric	stomach
47	chr11:36184600-36185800	Weak transcription	Psoas Muscle	Psoas
48	chr11:36184600-36186200	Enhancers	Fetal Intestine Large	intestine
49	chr11:36184600-36186400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr11:36184600-36188400	Enhancers	HUVEC	blood vessel

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