Variant report

Variant	rs60862993
Chromosome Location	chr6:53794429-53794430
allele	G/T
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	CEBPB	chr6:53793769-53794551	HCT-116	colon:	n/a	n/a
2	FOSL1	chr6:53793642-53794464	HCT-116	colon:	n/a	chr6:53794056-53794065 chr6:53794056-53794064 chr6:53794057-53794064 chr6:53794055-53794064
3	SP1	chr6:53793685-53794491	HCT-116	colon:	n/a	n/a

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

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

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1570915	1.00[AMR][1000 genomes]
rs1581820	1.00[AMR][1000 genomes]
rs2182275	1.00[AMR][1000 genomes]
rs72948191	1.00[AMR][1000 genomes]
rs9464010	1.00[AMR][1000 genomes]
rs9474693	1.00[AMR][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	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53768800-53796000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:53770000-53795800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr6:53772000-53803000	Weak transcription	Lung	lung
4	chr6:53787800-53794800	Weak transcription	Spleen	Spleen
5	chr6:53787800-53796000	Weak transcription	Primary T cells from cord blood	blood
6	chr6:53787800-53807800	Weak transcription	Aorta	Aorta
7	chr6:53787800-53810800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:53790600-53797200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:53790600-53798000	Weak transcription	Fetal Thymus	thymus
10	chr6:53790800-53794800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:53790800-53795000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:53791000-53795600	Weak transcription	Brain Germinal Matrix	brain
13	chr6:53791000-53795800	Weak transcription	Brain Substantia Nigra	brain
14	chr6:53791000-53796200	Enhancers	HUVEC	blood vessel
15	chr6:53791200-53795000	Enhancers	Hela-S3	cervix
16	chr6:53791400-53795200	Enhancers	Fetal Intestine Large	intestine
17	chr6:53791600-53795000	Enhancers	Duodenum Mucosa	Duodenum
18	chr6:53792200-53795000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:53792200-53795600	Weak transcription	Brain Hippocampus Middle	brain
20	chr6:53792200-53795800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:53792800-53796600	Weak transcription	Placenta	Placenta
22	chr6:53792800-53797800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr6:53793000-53795400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:53793000-53799200	Weak transcription	HSMMtube	muscle
25	chr6:53793400-53795000	Enhancers	HMEC	breast
26	chr6:53793600-53794600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:53793600-53797000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr6:53794200-53794600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr6:53794200-53794600	Enhancers	Left Ventricle	heart
30	chr6:53794200-53794600	Enhancers	Right Atrium	heart
31	chr6:53794200-53794600	Strong transcription	Dnd41	blood
32	chr6:53794200-53794800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:53794200-53795000	Enhancers	Stomach Mucosa	stomach
34	chr6:53794200-53795000	Flanking Active TSS	NHEK	skin
35	chr6:53794200-53795200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:53794200-53795200	Genic enhancers	Fetal Intestine Small	intestine
37	chr6:53794200-53795600	Weak transcription	HepG2	liver
38	chr6:53794400-53794600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:53794400-53794600	Enhancers	Fetal Kidney	kidney
40	chr6:53794400-53794600	Enhancers	Gastric	stomach
41	chr6:53794400-53794800	ZNF genes & repeats	Thymus	Thymus
42	chr6:53794400-53795000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:53794400-53795000	Enhancers	Pancreas	Pancrea
44	chr6:53794400-53795000	Weak transcription	Small Intestine	intestine
45	chr6:53794400-53795200	Strong transcription	Fetal Stomach	stomach
46	chr6:53794400-53795200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr6:53794400-53795600	Enhancers	Right Ventricle	heart
48	chr6:53794400-53795800	Enhancers	Esophagus	oesophagus

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