Variant report

Variant	rs9357776
Chromosome Location	chr6:53793241-53793242
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:53793212-53793369	Spleen_OC	spleen:	n/a	n/a
2	POLR2A	chr6:53793184-53793269	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:53656777..53661250-chr6:53790077..53794763,7	MCF-7	breast:
2	chr6:53669263..53671782-chr6:53791090..53793404,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236740	TF binding region
MLIP	TF binding region
ENSG00000228614	Chromatin interaction
ENSG00000137269	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1076701	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1076702	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12526194	0.94[EUR][1000 genomes]
rs2073020	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2076495	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2294790	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2294791	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2494088	0.93[ASN][1000 genomes]
rs3777661	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4314499	0.81[AMR][1000 genomes]
rs6903399	0.88[AMR][1000 genomes]
rs6921605	0.85[CHB][hapmap]
rs9349685	0.93[CEU][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9357778	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9370233	0.94[CEU][hapmap]
rs9370241	0.82[EUR][1000 genomes]
rs9370244	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9370246	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9382243	0.94[CEU][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes]
rs9382244	0.90[AMR][1000 genomes]
rs9382246	0.90[AMR][1000 genomes]
rs9382248	0.86[AMR][1000 genomes]
rs9382252	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9382253	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9382254	0.94[CEU][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9382256	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9382257	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9395878	0.94[CEU][hapmap]
rs9395881	0.88[AMR][1000 genomes]
rs9463996	0.80[CHB][hapmap]

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	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830664	chr6:53698021-53825270	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53759200-53794400	Weak transcription	Right Ventricle	heart
2	chr6:53760600-53793600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:53768800-53796000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:53770000-53795800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr6:53772000-53803000	Weak transcription	Lung	lung
6	chr6:53784600-53794200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr6:53784800-53794000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:53785600-53794400	Weak transcription	Thymus	Thymus
9	chr6:53786000-53794200	Weak transcription	Left Ventricle	heart
10	chr6:53786800-53794400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr6:53787800-53793600	Weak transcription	HepG2	liver
12	chr6:53787800-53794400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:53787800-53794400	Weak transcription	Pancreas	Pancrea
14	chr6:53787800-53794800	Weak transcription	Spleen	Spleen
15	chr6:53787800-53796000	Weak transcription	Primary T cells from cord blood	blood
16	chr6:53787800-53807800	Weak transcription	Aorta	Aorta
17	chr6:53787800-53810800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:53788000-53794400	Weak transcription	Primary B cells from cord blood	blood
19	chr6:53790600-53797200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr6:53790600-53798000	Weak transcription	Fetal Thymus	thymus
21	chr6:53790800-53794800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:53790800-53795000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:53791000-53793600	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr6:53791000-53794200	Enhancers	NHEK	skin
25	chr6:53791000-53795600	Weak transcription	Brain Germinal Matrix	brain
26	chr6:53791000-53795800	Weak transcription	Brain Substantia Nigra	brain
27	chr6:53791000-53796200	Enhancers	HUVEC	blood vessel
28	chr6:53791200-53795000	Enhancers	Hela-S3	cervix
29	chr6:53791400-53794200	Enhancers	Fetal Intestine Small	intestine
30	chr6:53791400-53794400	Weak transcription	Esophagus	oesophagus
31	chr6:53791400-53795200	Enhancers	Fetal Intestine Large	intestine
32	chr6:53791600-53794400	Weak transcription	Gastric	stomach
33	chr6:53791600-53795000	Enhancers	Duodenum Mucosa	Duodenum
34	chr6:53792200-53793600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:53792200-53793600	Weak transcription	Small Intestine	intestine
36	chr6:53792200-53794000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr6:53792200-53794200	Weak transcription	Right Atrium	heart
38	chr6:53792200-53794400	Weak transcription	Fetal Stomach	stomach
39	chr6:53792200-53795000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr6:53792200-53795600	Weak transcription	Brain Hippocampus Middle	brain
41	chr6:53792200-53795800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:53792400-53793600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr6:53792400-53793800	Weak transcription	Colon Smooth Muscle	Colon
44	chr6:53792400-53793800	Weak transcription	Fetal Heart	heart
45	chr6:53792400-53794000	Weak transcription	HSMM	muscle
46	chr6:53792400-53794200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:53792600-53794200	Weak transcription	Stomach Mucosa	stomach
48	chr6:53792800-53793600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:53792800-53794200	Weak transcription	Dnd41	blood
50	chr6:53792800-53796600	Weak transcription	Placenta	Placenta

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