Variant report

Variant	rs2143350
Chromosome Location	chr6:56253376-56253377
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56252910..56254417-chr6:56300788..56302600,2	MCF-7	breast:
2	chr6:56241738..56245167-chr6:56250105..56253808,4	MCF-7	breast:
3	chr6:56235606..56237147-chr6:56251903..56254247,2	MCF-7	breast:
4	chr6:56252890..56255029-chr6:56256865..56259570,2	MCF-7	breast:
5	chr6:56252272..56255163-chr6:56263455..56266276,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124749	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16887707	1.00[CHB][hapmap]
rs607427	1.00[CHB][hapmap]
rs6911764	1.00[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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830666	chr6:56243743-56419599	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56247400-56263600	Weak transcription	Small Intestine	intestine
2	chr6:56251000-56253400	Enhancers	Colon Smooth Muscle	Colon
3	chr6:56251600-56253600	Enhancers	Fetal Intestine Large	intestine
4	chr6:56251600-56253600	Enhancers	Fetal Intestine Small	intestine
5	chr6:56251600-56253600	Enhancers	Rectal Smooth Muscle	rectum
6	chr6:56251600-56253600	Enhancers	Stomach Mucosa	stomach
7	chr6:56251600-56253800	Enhancers	Liver	Liver
8	chr6:56252200-56253400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:56252200-56253400	Enhancers	Duodenum Mucosa	Duodenum
10	chr6:56252200-56253400	Enhancers	Psoas Muscle	Psoas
11	chr6:56252200-56253600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:56252400-56253400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:56252400-56253400	Enhancers	Left Ventricle	heart
14	chr6:56252400-56253400	Enhancers	Pancreas	Pancrea
15	chr6:56252400-56253400	Enhancers	Right Ventricle	heart
16	chr6:56252400-56253400	Flanking Active TSS	Hela-S3	cervix
17	chr6:56252600-56253400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:56252600-56253400	Enhancers	Esophagus	oesophagus
19	chr6:56252600-56253400	Enhancers	HMEC	breast
20	chr6:56252800-56253400	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr6:56252800-56253800	Enhancers	HepG2	liver
22	chr6:56253000-56253400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr6:56253000-56253400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr6:56253000-56282600	Weak transcription	Aorta	Aorta
25	chr6:56253200-56258800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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