Variant report

Variant	rs11993306
Chromosome Location	chr8:67492341-67492342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10283103	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs10504393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11985572	1.00[CEU][hapmap]
rs11986831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs11987253	1.00[ASN][1000 genomes]
rs11987254	1.00[ASN][1000 genomes]
rs11987271	1.00[ASN][1000 genomes]
rs11987311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs11988213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap]
rs11990322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.88[ASN][1000 genomes]
rs11990331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[ASN][1000 genomes]
rs11993354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11995253	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995256	1.00[CEU][hapmap]
rs11995291	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996861	1.00[CEU][hapmap]
rs11997967	1.00[CEU][hapmap]
rs11998194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11998301	1.00[CEU][hapmap]
rs16932983	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[ASN][1000 genomes]
rs16933013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16933026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16933032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
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[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs2358000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28432871	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28572179	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28589429	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35353562	0.88[ASN][1000 genomes]
rs35517376	1.00[CEU][hapmap]
rs3808602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs3824258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[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]
rs56682762	1.00[ASN][1000 genomes]
rs56742359	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57125106	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57858031	1.00[ASN][1000 genomes]
rs58454063	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58806068	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59089124	1.00[ASN][1000 genomes]
rs59410806	1.00[ASN][1000 genomes]
rs60165103	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60655524	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60784079	1.00[ASN][1000 genomes]
rs61469007	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472285	1.00[CEU][hapmap]
rs6982202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6983632	1.00[CEU][hapmap]
rs6986439	1.00[ASN][1000 genomes]
rs6986940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs6987665	1.00[CEU][hapmap]
rs6988670	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998252	1.00[CEU][hapmap]
rs6998505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7003548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7008740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015619	1.00[CEU][hapmap]
rs7017471	1.00[CEU][hapmap]
rs73248113	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248122	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248134	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248138	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250233	1.00[ASN][1000 genomes]
rs73250238	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73250241	1.00[ASN][1000 genomes]
rs73250244	1.00[ASN][1000 genomes]
rs73250249	1.00[ASN][1000 genomes]
rs73250250	1.00[ASN][1000 genomes]
rs73250252	1.00[ASN][1000 genomes]
rs73250262	1.00[ASN][1000 genomes]
rs73251887	1.00[ASN][1000 genomes]
rs73253909	0.88[ASN][1000 genomes]
rs73261704	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261763	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261767	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828492	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830436	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7844944	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs957655	1.00[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	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
2	nsv831346	chr8:67486555-67675324	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67464000-67493600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr8:67468600-67493400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:67473400-67519600	Weak transcription	HMEC	breast
4	chr8:67473600-67497800	Weak transcription	Left Ventricle	heart
5	chr8:67474200-67494000	Weak transcription	HUVEC	blood vessel
6	chr8:67474200-67521000	Weak transcription	NHEK	skin
7	chr8:67474200-67523000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:67474600-67511200	Weak transcription	A549	lung
9	chr8:67474600-67520000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:67474800-67523200	Weak transcription	NH-A	brain
11	chr8:67479000-67513600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:67479200-67498800	Weak transcription	NHDF-Ad	bronchial
13	chr8:67481800-67523000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:67484000-67493800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:67484800-67492400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:67485400-67493600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr8:67486800-67492400	Weak transcription	Fetal Heart	heart
18	chr8:67486800-67494400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:67487000-67497800	Weak transcription	Fetal Stomach	stomach
20	chr8:67487800-67498400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:67488400-67500400	Weak transcription	NHLF	lung
22	chr8:67488600-67494600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:67488600-67496000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr8:67488600-67496200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:67488600-67505200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:67488600-67506000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:67488600-67508800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr8:67488600-67523200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:67488800-67493600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr8:67488800-67509000	Weak transcription	Dnd41	blood
31	chr8:67489000-67493400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:67489000-67494400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:67489200-67495400	Weak transcription	HSMM	muscle
34	chr8:67489200-67498800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:67491600-67495000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:67491800-67492600	Strong transcription	Osteobl	bone

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