Variant report

Variant	rs2230494
Chromosome Location	chr3:53220215-53220216
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53219801..53222487-chr3:53226191..53228055,3	K562	blood:
2	chr3:53188739..53190772-chr3:53217990..53220678,2	MCF-7	breast:
3	chr3:53213790..53217370-chr3:53218232..53220509,3	K562	blood:

Variant related genes	Relation type
ENSG00000163932	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12490555	0.82[ASN][1000 genomes]
rs12490645	0.83[CEU][hapmap];0.87[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs2306572	0.85[JPT][hapmap]
rs2306574	0.83[EUR][1000 genomes]
rs3773722	0.83[EUR][1000 genomes]
rs45596236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57742023	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62254320	0.83[ASN][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	nsv834699	chr3:53151876-53325808	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv517233	chr3:53175557-53321002	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53197600-53227600	Weak transcription	Hela-S3	cervix
2	chr3:53200600-53229600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr3:53201600-53228000	Weak transcription	NH-A	brain
4	chr3:53202000-53228400	Weak transcription	Fetal Kidney	kidney
5	chr3:53202800-53229600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:53203200-53226800	Strong transcription	Fetal Stomach	stomach
7	chr3:53203600-53229800	Weak transcription	A549	lung
8	chr3:53205600-53229800	Weak transcription	Brain Angular Gyrus	brain
9	chr3:53206600-53221400	Strong transcription	Fetal Intestine Small	intestine
10	chr3:53206800-53228000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr3:53207200-53227400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr3:53207200-53227600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:53209200-53222800	Weak transcription	Brain Germinal Matrix	brain
14	chr3:53209600-53228000	Weak transcription	HUVEC	blood vessel
15	chr3:53209600-53228400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr3:53210000-53229000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr3:53210600-53228400	Strong transcription	Gastric	stomach
18	chr3:53211000-53227400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr3:53211400-53223000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr3:53211400-53227800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr3:53211600-53224800	Strong transcription	Rectal Smooth Muscle	rectum
22	chr3:53211800-53227800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:53212200-53221000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:53212200-53225200	Strong transcription	Right Ventricle	heart
25	chr3:53212200-53226200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:53212200-53226800	Strong transcription	Lung	lung
27	chr3:53212200-53227000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:53212400-53220800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:53212400-53221400	Strong transcription	NHLF	lung
30	chr3:53212400-53221600	Strong transcription	Fetal Intestine Large	intestine
31	chr3:53212400-53223400	Strong transcription	Fetal Thymus	thymus
32	chr3:53212400-53224600	Strong transcription	Thymus	Thymus
33	chr3:53212400-53225200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr3:53212400-53225400	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr3:53212400-53226200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:53212400-53226200	Strong transcription	Esophagus	oesophagus
37	chr3:53212400-53226800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:53212600-53220400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr3:53212600-53224200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr3:53212600-53224600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr3:53212600-53226400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr3:53212600-53226400	Strong transcription	Ovary	ovary
43	chr3:53212800-53224000	Strong transcription	Pancreas	Pancrea
44	chr3:53212800-53226800	Strong transcription	HMEC	breast
45	chr3:53213200-53222400	Weak transcription	Osteobl	bone
46	chr3:53213200-53225200	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr3:53213400-53221200	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr3:53213600-53221800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr3:53213800-53223000	Weak transcription	NHDF-Ad	bronchial
50	chr3:53214200-53229600	Weak transcription	Brain Hippocampus Middle	brain

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