Variant report

Variant	rs11995298
Chromosome Location	chr8:67438434-67438435
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67438114..67440506-chr8:67485207..67488200,2	MCF-7	breast:
2	chr8:67437359..67439094-chr8:67623238..67625663,4	MCF-7	breast:
3	chr8:67437761..67439528-chr9:132250027..132252921,2	MCF-7	breast:
4	chr8:67429729..67439141-chr8:67513957..67529788,42	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185697	Chromatin interaction
ENSG00000104205	Chromatin interaction
ENSG00000204054	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11985608	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12543076	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs12547731	0.81[CHB][hapmap]
rs12547831	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16932954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16932958	1.00[CEU][hapmap]
rs34346108	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34949628	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512590	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62512592	0.97[ASN][1000 genomes]
rs62512594	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512597	0.99[ASN][1000 genomes]
rs62512598	0.99[ASN][1000 genomes]
rs6982757	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6997318	1.00[ASN][1000 genomes]
rs6998821	0.99[ASN][1000 genomes]
rs7008801	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.99[ASN][1000 genomes]
rs7011235	1.00[ASN][1000 genomes]
rs73259750	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7823762	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832611	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7839827	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67433200-67440600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr8:67435400-67439200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:67435400-67441000	Enhancers	HMEC	breast
4	chr8:67435400-67441000	Enhancers	Osteobl	bone
5	chr8:67435400-67445000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr8:67435600-67439000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:67435600-67441400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:67435600-67446000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:67435600-67448600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:67435800-67439400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:67436000-67438800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:67436000-67438800	Enhancers	Hela-S3	cervix
13	chr8:67436000-67439800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr8:67436000-67443800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr8:67436000-67446800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr8:67436000-67448000	Weak transcription	Spleen	Spleen
17	chr8:67436200-67438800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr8:67436400-67444400	Weak transcription	Primary T cells from cord blood	blood
19	chr8:67436600-67438800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr8:67436600-67439600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:67436600-67443600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr8:67436600-67443600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:67437000-67438800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:67437400-67439800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:67437800-67439000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr8:67437800-67439600	Weak transcription	Right Atrium	heart
27	chr8:67437800-67443800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:67437800-67454000	Weak transcription	Psoas Muscle	Psoas
29	chr8:67438000-67440200	Weak transcription	Aorta	Aorta
30	chr8:67438200-67438800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:67438200-67438800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:67438200-67439000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:67438200-67443800	Weak transcription	Fetal Heart	heart
34	chr8:67438400-67438800	Enhancers	GM12878-XiMat	blood
35	chr8:67438400-67439000	Weak transcription	HSMM	muscle
36	chr8:67438400-67439200	ZNF genes & repeats	Placenta	Placenta
37	chr8:67438400-67440400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links