Variant report

Variant	rs6709976
Chromosome Location	chr2:37308512-37308513
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37306796..37309782-chr2:37312097..37314349,2	K562	blood:
2	chr2:37296556..37299505-chr2:37305358..37308642,3	K562	blood:
3	chr2:37301491..37304402-chr2:37305952..37309090,3	K562	blood:
4	chr2:37304349..37309005-chr2:37309804..37311828,5	K562	blood:

Variant related genes	Relation type
ENSG00000008869	Chromatin interaction
ENSG00000152133	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10153588	1.00[EUR][1000 genomes]
rs11124559	1.00[EUR][1000 genomes]
rs2307477	1.00[EUR][1000 genomes]
rs2540993	0.86[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2540994	1.00[EUR][1000 genomes]
rs2706806	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2706807	0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs2888443	1.00[EUR][1000 genomes]
rs3845782	0.86[YRI][hapmap]
rs4503966	1.00[EUR][1000 genomes]
rs4670653	0.87[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4670654	0.87[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6734153	0.87[YRI][hapmap];0.87[AFR][1000 genomes]
rs6734269	0.84[AFR][1000 genomes]
rs6743906	0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73924975	1.00[EUR][1000 genomes]
rs73927404	1.00[EUR][1000 genomes]
rs7596489	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37253800-37310200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:37272600-37309800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:37274200-37308800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:37274400-37309600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:37275400-37309200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:37278600-37310800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:37279200-37309200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:37287400-37309200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:37287600-37309600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:37289000-37309400	Strong transcription	Fetal Thymus	thymus
11	chr2:37292200-37310200	Weak transcription	Colonic Mucosa	Colon
12	chr2:37292200-37310800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:37293000-37309800	Weak transcription	Spleen	Spleen
14	chr2:37293400-37310400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:37293400-37310400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:37294000-37309200	Weak transcription	Fetal Brain Male	brain
17	chr2:37296200-37309600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:37297400-37310800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:37297600-37309200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:37297600-37310400	Weak transcription	Pancreas	Pancrea
21	chr2:37297600-37310800	Weak transcription	Lung	lung
22	chr2:37299600-37309600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:37301000-37308800	Strong transcription	Liver	Liver
24	chr2:37302000-37309000	Strong transcription	NH-A	brain
25	chr2:37302200-37310000	Weak transcription	Hela-S3	cervix
26	chr2:37302200-37310000	Strong transcription	Osteobl	bone
27	chr2:37302600-37310800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:37302800-37310400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:37302800-37310400	Weak transcription	Fetal Kidney	kidney
30	chr2:37303200-37309000	Strong transcription	Fetal Brain Female	brain
31	chr2:37303600-37309600	Weak transcription	NHEK	skin
32	chr2:37303600-37309800	Weak transcription	NHLF	lung
33	chr2:37303600-37310400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:37303800-37308800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:37303800-37310400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:37304000-37309600	Weak transcription	Ovary	ovary
37	chr2:37304400-37310200	Weak transcription	NHDF-Ad	bronchial
38	chr2:37304800-37309200	Weak transcription	Fetal Intestine Small	intestine
39	chr2:37304800-37310600	Weak transcription	Aorta	Aorta
40	chr2:37304800-37310600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr2:37305000-37310400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:37305200-37308800	Weak transcription	Gastric	stomach
43	chr2:37305200-37310200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:37305400-37308800	Weak transcription	Fetal Stomach	stomach
45	chr2:37305400-37309400	Weak transcription	Esophagus	oesophagus
46	chr2:37305400-37310200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:37305600-37308600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:37305600-37308800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:37305600-37310800	Weak transcription	Left Ventricle	heart
50	chr2:37305800-37310400	Genic enhancers	Primary B cells from peripheral blood	blood

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