Variant report

Variant	rs60165103
Chromosome Location	chr8:67502133-67502134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10504393	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11986831	0.81[EUR][1000 genomes]
rs11987253	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987254	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987271	1.00[ASN][1000 genomes]
rs11987311	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988213	0.81[EUR][1000 genomes]
rs11990322	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11990331	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992252	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11992295	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11993306	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993354	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994827	0.81[EUR][1000 genomes]
rs11995031	0.81[EUR][1000 genomes]
rs11995253	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995291	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997554	0.81[EUR][1000 genomes]
rs11998194	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs16932983	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932985	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932996	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933013	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs16933026	0.80[AFR][1000 genomes]
rs16933032	0.81[EUR][1000 genomes]
rs2357998	0.81[EUR][1000 genomes]
rs2358000	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28432871	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28572179	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28589429	0.83[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	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3808602	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs3824258	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4345540	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs56682762	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56742359	0.83[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	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58454063	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58806068	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59089124	0.90[AFR][1000 genomes];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]
rs60655524	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60784079	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61469007	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982202	0.97[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982407	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6986439	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986940	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988670	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991992	0.81[EUR][1000 genomes]
rs6998505	0.85[EUR][1000 genomes]
rs6998718	0.81[EUR][1000 genomes]
rs7003548	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7008740	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248113	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248122	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248134	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248138	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250233	0.97[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250238	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250241	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250244	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250249	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250250	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250252	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250262	0.90[AFR][1000 genomes];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	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261763	0.83[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	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830436	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840192	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7844944	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67473400-67519600	Weak transcription	HMEC	breast
2	chr8:67474200-67521000	Weak transcription	NHEK	skin
3	chr8:67474200-67523000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:67474600-67511200	Weak transcription	A549	lung
5	chr8:67474600-67520000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:67474800-67523200	Weak transcription	NH-A	brain
7	chr8:67479000-67513600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:67481800-67523000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:67488600-67505200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:67488600-67506000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:67488600-67508800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr8:67488600-67523200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:67488800-67509000	Weak transcription	Dnd41	blood
14	chr8:67492600-67509200	Weak transcription	Osteobl	bone
15	chr8:67494800-67503800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:67494800-67517800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr8:67495000-67519600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:67496600-67517400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr8:67496800-67504600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:67496800-67519600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:67498000-67506800	Weak transcription	Fetal Stomach	stomach
22	chr8:67498600-67507800	Weak transcription	Left Ventricle	heart
23	chr8:67499400-67503400	Weak transcription	Fetal Thymus	thymus
24	chr8:67499400-67518000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr8:67499400-67520800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr8:67499800-67503400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr8:67500000-67503200	Strong transcription	HSMM	muscle
28	chr8:67500200-67502600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:67500400-67502400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:67500600-67503400	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr8:67500600-67507800	Weak transcription	NHDF-Ad	bronchial
32	chr8:67500800-67523400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:67501200-67521200	Weak transcription	NHLF	lung
34	chr8:67501400-67502200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr8:67502000-67502400	Enhancers	GM12878-XiMat	blood
36	chr8:67502000-67515400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:67502000-67517400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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