Variant report

Variant	rs57991612
Chromosome Location	chr4:54428739-54428740
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54416409..54418260-chr4:54428157..54430046,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10007397	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10031491	0.96[AFR][1000 genomes]
rs17083038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9654328	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829936	chr4:54367783-54556123	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54390400-54430400	Weak transcription	Stomach Mucosa	stomach
2	chr4:54412200-54442400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:54416000-54438000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:54419800-54430400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:54420000-54437600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:54421400-54437600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr4:54421600-54437000	Weak transcription	Pancreas	Pancrea
8	chr4:54424600-54430200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:54424600-54430400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:54424600-54430600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:54425200-54429000	Weak transcription	Fetal Intestine Small	intestine
12	chr4:54425200-54436800	Weak transcription	Esophagus	oesophagus
13	chr4:54425200-54437000	Weak transcription	Fetal Intestine Large	intestine
14	chr4:54425200-54437600	Weak transcription	Placenta	Placenta
15	chr4:54425200-54457400	Weak transcription	Right Atrium	heart
16	chr4:54425400-54429600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:54425400-54430200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:54425400-54430400	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:54425400-54430600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr4:54425400-54437600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr4:54425400-54439200	Weak transcription	Liver	Liver
22	chr4:54425600-54430200	Weak transcription	NHDF-Ad	bronchial
23	chr4:54425800-54430000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:54425800-54430000	Weak transcription	Osteobl	bone
25	chr4:54425800-54430200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:54425800-54430200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:54425800-54430200	Weak transcription	HSMM	muscle
28	chr4:54425800-54430200	Weak transcription	NH-A	brain
29	chr4:54426000-54429600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:54426000-54430000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:54426000-54430200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:54426200-54429400	Weak transcription	HMEC	breast
33	chr4:54426200-54429800	Weak transcription	NHEK	skin
34	chr4:54426400-54430000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:54428400-54428800	Enhancers	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links