Variant report

Variant	rs62397015
Chromosome Location	chr6:38226028-38226029
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	chr6:38221614..38223859-chr6:38225623..38227159,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10484933	0.87[AMR][1000 genomes]
rs12524219	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12526138	1.00[AFR][1000 genomes]
rs12529300	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12529640	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs16890465	0.87[AMR][1000 genomes]
rs16890468	0.87[AMR][1000 genomes]
rs16890511	0.87[AMR][1000 genomes]
rs16890522	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4711526	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4711530	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4714127	1.00[AFR][1000 genomes]
rs4714135	0.90[AMR][1000 genomes]
rs4714137	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4714142	1.00[AFR][1000 genomes]
rs62397007	1.00[AFR][1000 genomes]
rs62397011	0.87[AMR][1000 genomes]
rs6929505	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38181400-38229400	Weak transcription	Fetal Intestine Small	intestine
2	chr6:38194400-38230200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:38204800-38229400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:38205200-38228800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:38207800-38229400	Weak transcription	Brain Hippocampus Middle	brain
6	chr6:38208000-38226400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:38208200-38227600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:38208200-38236600	Weak transcription	Gastric	stomach
9	chr6:38208200-38255000	Weak transcription	Ovary	ovary
10	chr6:38209000-38229000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr6:38209200-38227000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:38213400-38228800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr6:38213400-38232400	Weak transcription	Right Ventricle	heart
14	chr6:38215200-38229400	Weak transcription	Brain Angular Gyrus	brain
15	chr6:38215600-38229000	Weak transcription	Brain Substantia Nigra	brain
16	chr6:38216000-38229000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr6:38216000-38238000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr6:38216800-38227000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr6:38217000-38227000	Weak transcription	NHDF-Ad	bronchial
20	chr6:38217200-38226200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:38218000-38229600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr6:38218000-38229800	Weak transcription	Spleen	Spleen
23	chr6:38218800-38232200	Weak transcription	Small Intestine	intestine
24	chr6:38219200-38227200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:38219400-38229600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:38220000-38238200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:38220200-38229400	Weak transcription	Colon Smooth Muscle	Colon
28	chr6:38220400-38226800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:38220400-38226800	Weak transcription	Thymus	Thymus
30	chr6:38220400-38229400	Weak transcription	Brain Anterior Caudate	brain
31	chr6:38220600-38228800	Weak transcription	HSMMtube	muscle
32	chr6:38220600-38241600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr6:38220800-38226600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr6:38221600-38226400	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr6:38221800-38226600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr6:38222000-38227200	Weak transcription	HSMM	muscle
37	chr6:38222000-38229600	Weak transcription	Aorta	Aorta
38	chr6:38222000-38234600	Weak transcription	Esophagus	oesophagus
39	chr6:38222200-38226400	Strong transcription	Primary B cells from peripheral blood	blood
40	chr6:38222200-38227000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:38222600-38227000	Weak transcription	Osteobl	bone
42	chr6:38222600-38229400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr6:38222600-38229400	Weak transcription	Fetal Muscle Leg	muscle
44	chr6:38222600-38232400	Weak transcription	Lung	lung
45	chr6:38223000-38227200	Weak transcription	Liver	Liver
46	chr6:38223000-38230000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:38223000-38231600	Weak transcription	Fetal Intestine Large	intestine
48	chr6:38223200-38227200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:38223400-38229400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr6:38223600-38226800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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