Variant report

Variant	rs2461816
Chromosome Location	chr3:119527760-119527761
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119527283..119529245-chr3:119900596..119902132,2	MCF-7	breast:
2	chr3:119527025..119528584-chr3:119529180..119532030,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144852	Chromatin interaction

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

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

rs_ID	r²[population]
rs13312998	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs13314595	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs1464600	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1464601	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1719887	0.82[CHB][hapmap]
rs1719888	0.82[CHB][hapmap];0.82[MKK][hapmap]
rs1719889	0.82[CHB][hapmap]
rs1719895	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs2037547	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs2461824	0.97[ASN][1000 genomes]
rs2472680	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3108749	0.82[CHB][hapmap]
rs3732356	0.97[ASN][1000 genomes]
rs3814056	1.00[JPT][hapmap]
rs4072520	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs4688043	0.82[CHB][hapmap]
rs6438550	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.94[EUR][1000 genomes]
rs6438554	0.82[CHB][hapmap]
rs6769435	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs6771023	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs6784239	0.82[CHB][hapmap]
rs6785050	0.82[CHB][hapmap]
rs6790751	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs6797879	0.94[EUR][1000 genomes]
rs6807868	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs7617372	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs7620750	0.84[CHD][hapmap]
rs7624540	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs9829763	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs9879992	0.82[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	nsv1011178	chr3:119437192-119589116	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv536703	chr3:119437192-119589116	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119515400-119528600	Weak transcription	Colonic Mucosa	Colon
2	chr3:119516800-119534600	Weak transcription	HepG2	liver
3	chr3:119525000-119528200	Strong transcription	Fetal Intestine Large	intestine
4	chr3:119525000-119532400	Weak transcription	Small Intestine	intestine
5	chr3:119525200-119528600	Strong transcription	Fetal Intestine Small	intestine
6	chr3:119525200-119529000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:119525800-119528800	Strong transcription	Liver	Liver
8	chr3:119526000-119527800	Strong transcription	Duodenum Mucosa	Duodenum
9	chr3:119526000-119528000	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr3:119526600-119528400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:119527200-119528000	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr3:119527400-119528000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
13	chr3:119527400-119528200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:119527400-119528200	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr3:119527600-119527800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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