Variant report

Variant	rs431903
Chromosome Location	chr5:94978001-94978002
allele	A/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	GATA3	chr5:94977448-94978069	MCF-7	breast:	n/a	chr5:94977564-94977572 chr5:94977454-94977462
2	RCOR1	chr5:94977532-94978046	K562	blood:	n/a	n/a
3	SIN3AK20	chr5:94977282-94978035	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:94977116..95012475-chr5:95055682..95079552,215	K562	blood:
2	chr5:94977888..94979962-chr5:95065955..95067662,2	K562	blood:

Variant related genes	Relation type
RFESD	TF binding region
ENSG00000164292	Chromatin interaction
ENSG00000250240	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs34902	1.00[CEU][hapmap];0.86[GIH][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs955688	1.00[YRI][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	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv598960	chr5:94975592-94988482	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs431903	RHOBTB3	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94968200-94979800	Weak transcription	Primary T cells from cord blood	blood
2	chr5:94974800-94979800	Weak transcription	GM12878-XiMat	blood
3	chr5:94975200-94979200	Enhancers	Pancreas	Pancrea
4	chr5:94976000-94982400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:94976600-94978200	Enhancers	Fetal Intestine Small	intestine
6	chr5:94976600-94978600	Enhancers	Fetal Intestine Large	intestine
7	chr5:94976800-94978200	Enhancers	Stomach Mucosa	stomach
8	chr5:94976800-94978400	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr5:94976800-94982200	Enhancers	Liver	Liver
10	chr5:94977400-94978200	Enhancers	K562	blood
11	chr5:94977400-94978400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:94977600-94979800	Weak transcription	NHLF	lung
13	chr5:94977600-94980400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr5:94977600-94982200	Weak transcription	Right Atrium	heart
15	chr5:94977600-94982200	Weak transcription	HSMM	muscle
16	chr5:94977800-94979800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:94977800-94979800	Enhancers	HepG2	liver
18	chr5:94977800-94979800	Weak transcription	NHEK	skin
19	chr5:94977800-94982000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:94977800-94982000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr5:94977800-94982600	Weak transcription	Left Ventricle	heart
22	chr5:94978000-94979800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:94978000-94982200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:94978000-94982600	Weak transcription	Aorta	Aorta

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