Variant report

Variant	rs11787175
Chromosome Location	chr8:121097002-121097003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:120992148..120993125-chr8:121096415..121097113,2	MCF-7	breast:
2	chr8:120879482..120880043-chr8:121096505..121097479,3	MCF-7	breast:
3	chr8:120879142..120880209-chr8:121095976..121097529,9	K562	blood:
4	chr8:120886696..120887265-chr8:121096813..121097521,2	MCF-7	breast:
5	chr8:120875465..120877804-chr8:121095827..121097484,2	K562	blood:
6	chr8:121082264..121084470-chr8:121096952..121099036,2	K562	blood:
7	chr8:120992589..120993124-chr8:121096758..121097431,2	MCF-7	breast:
8	chr8:120879060..120880090-chr8:121096532..121097875,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000245330	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10095303	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10108373	1.00[YRI][hapmap]
rs10109558	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10110144	0.81[CHD][hapmap];0.82[MEX][hapmap]
rs1051534	0.91[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10738134	1.00[YRI][hapmap]
rs10955951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11787250	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995866	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12546625	0.89[ASW][hapmap];0.84[CHD][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap]
rs12680859	0.91[ASW][hapmap];0.87[CHD][hapmap];0.95[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap]
rs13266382	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2056304	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2139434	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34476793	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4633103	0.87[CHD][hapmap];1.00[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap]
rs4871044	0.91[ASW][hapmap];0.83[CHD][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap]
rs4871822	0.82[CHD][hapmap];0.83[MEX][hapmap]
rs4871827	0.86[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6469890	0.85[CHD][hapmap]
rs6980708	1.00[YRI][hapmap]
rs7817016	1.00[YRI][hapmap]
rs7827219	0.91[ASW][hapmap];0.87[CHD][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap]
rs7833689	0.84[CHD][hapmap];0.83[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1025923	chr8:121093383-121108706	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11787175	ATAD2	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121094400-121097400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr8:121094400-121097600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:121094400-121097600	Enhancers	Osteobl	bone
4	chr8:121094400-121098000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:121094800-121097600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:121095000-121097400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:121095200-121101200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:121095400-121097600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr8:121096000-121097400	Enhancers	A549	lung
10	chr8:121096200-121097400	Enhancers	Hela-S3	cervix
11	chr8:121096600-121097200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:121096600-121097400	Enhancers	Fetal Intestine Large	intestine
13	chr8:121096800-121097600	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr8:121097000-121097600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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