Variant report

Variant	rs11995253
Chromosome Location	chr8:67473025-67473026
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	chr8:67472882..67474653-chr8:67581593..67583567,2	K562	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10283103	1.00[CHB][hapmap]
rs10504393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs11986831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs11987253	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987254	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987271	1.00[ASN][1000 genomes]
rs11987311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs11990322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11990331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11992295	0.81[EUR][1000 genomes]
rs11993306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994827	0.81[EUR][1000 genomes]
rs11995031	0.81[EUR][1000 genomes]
rs11995291	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996861	1.00[CEU][hapmap]
rs11997554	0.81[EUR][1000 genomes]
rs11998194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs11998301	1.00[CEU][hapmap]
rs16932983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs16933026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16933032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs16933034	1.00[CEU][hapmap]
rs16933036	1.00[CEU][hapmap]
rs16933039	1.00[CEU][hapmap]
rs2357998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2358000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28432871	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28572179	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28589429	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34301114	0.81[EUR][1000 genomes]
rs35078037	0.81[EUR][1000 genomes]
rs35353562	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3808602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs3824258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3857962	1.00[CEU][hapmap]
rs3913346	1.00[CEU][hapmap]
rs3929419	1.00[CEU][hapmap]
rs4345540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs56682762	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56742359	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56810217	0.81[EUR][1000 genomes]
rs57125106	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57351080	0.81[EUR][1000 genomes]
rs57858031	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58454063	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58806068	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59089124	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59410806	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59643912	0.81[EUR][1000 genomes]
rs60165103	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60655524	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60784079	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61469007	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982407	0.81[EUR][1000 genomes]
rs6986439	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987665	1.00[CEU][hapmap]
rs6988670	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991992	0.81[EUR][1000 genomes]
rs6998252	1.00[CEU][hapmap]
rs6998505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs6998718	0.81[EUR][1000 genomes]
rs7003548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs7008740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248113	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248122	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248134	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248138	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250233	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250238	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250241	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250244	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250249	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250250	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250252	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250262	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73251887	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253909	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73253915	0.81[EUR][1000 genomes]
rs73253968	0.81[EUR][1000 genomes]
rs73261704	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261763	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261767	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828492	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830436	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs7844944	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs957655	1.00[CHB][hapmap]

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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67463600-67488200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr8:67464000-67493600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:67464600-67488200	Weak transcription	Dnd41	blood
4	chr8:67465200-67478400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr8:67466600-67484000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:67468200-67473400	Weak transcription	Left Ventricle	heart
7	chr8:67468600-67474000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr8:67468600-67480400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:67468600-67480800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:67468600-67493400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:67468800-67477600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:67469600-67487400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr8:67470400-67473400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:67470800-67476200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:67470800-67481200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:67471400-67473200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr8:67471600-67473200	Enhancers	Fetal Lung	lung
18	chr8:67471600-67473600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:67471600-67473600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr8:67471600-67473600	Enhancers	HSMMtube	muscle
21	chr8:67471600-67473800	Enhancers	Hela-S3	cervix
22	chr8:67471600-67474000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr8:67471600-67474200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:67471600-67474400	Enhancers	NHDF-Ad	bronchial
25	chr8:67471800-67473600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:67471800-67474200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:67471800-67474200	Enhancers	Fetal Heart	heart
28	chr8:67471800-67474200	Enhancers	HUVEC	blood vessel
29	chr8:67472000-67473200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:67472000-67473200	Enhancers	A549	lung
31	chr8:67472000-67473200	Enhancers	HSMM	muscle
32	chr8:67472000-67473200	Enhancers	NHEK	skin
33	chr8:67472000-67474000	Weak transcription	Psoas Muscle	Psoas
34	chr8:67472000-67474200	Enhancers	NHLF	lung
35	chr8:67472400-67473400	Weak transcription	Aorta	Aorta
36	chr8:67472400-67473800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:67472600-67473400	Enhancers	HMEC	breast
38	chr8:67473000-67473400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:67473000-67473600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:67473000-67473600	Weak transcription	Osteobl	bone
41	chr8:67473000-67473800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:67473000-67473800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:67473000-67474000	Weak transcription	NH-A	brain
44	chr8:67473000-67474200	Enhancers	Fetal Muscle Leg	muscle
45	chr8:67473000-67477800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:67473000-67481400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links