Variant report

Variant	rs7008048
Chromosome Location	chr8:42576588-42576589
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 136 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs10101564	0.90[EUR][1000 genomes]
rs10101973	0.93[EUR][1000 genomes]
rs10104038	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10112455	0.93[EUR][1000 genomes]
rs13439675	0.93[EUR][1000 genomes]
rs1451241	0.93[EUR][1000 genomes]
rs1451242	0.90[EUR][1000 genomes]
rs16891521	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs16891530	0.90[EUR][1000 genomes]
rs28413944	0.90[EUR][1000 genomes]
rs28528998	0.90[EUR][1000 genomes]
rs28616109	0.90[EUR][1000 genomes]
rs28621985	0.90[EUR][1000 genomes]
rs28680472	0.90[EUR][1000 genomes]
rs28809511	0.93[EUR][1000 genomes]
rs28848209	0.90[EUR][1000 genomes]
rs28849085	0.90[EUR][1000 genomes]
rs28850974	0.93[EUR][1000 genomes]
rs4952	1.00[EUR][1000 genomes]
rs4953	1.00[EUR][1000 genomes]
rs55817013	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57435730	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57499403	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57521649	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58205452	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58279443	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59521406	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59569717	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59689170	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59705185	0.87[EUR][1000 genomes]
rs60926557	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61601101	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62515862	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62515865	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62515867	1.00[EUR][1000 genomes]
rs62515871	0.90[EUR][1000 genomes]
rs62515872	0.90[EUR][1000 genomes]
rs62515873	0.90[EUR][1000 genomes]
rs62516708	0.90[EUR][1000 genomes]
rs62516710	0.84[EUR][1000 genomes]
rs62516711	0.90[EUR][1000 genomes]
rs62516713	0.93[EUR][1000 genomes]
rs62516715	0.93[EUR][1000 genomes]
rs62516718	0.93[EUR][1000 genomes]
rs62516719	0.93[EUR][1000 genomes]
rs62516738	0.93[EUR][1000 genomes]
rs62516739	0.93[EUR][1000 genomes]
rs62516740	0.93[EUR][1000 genomes]
rs62516741	0.93[EUR][1000 genomes]
rs62516742	0.93[EUR][1000 genomes]
rs62516743	0.90[EUR][1000 genomes]
rs62516744	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62516745	0.93[EUR][1000 genomes]
rs62516746	0.90[EUR][1000 genomes]
rs62516747	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62516748	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62516749	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62516750	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62516751	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62516752	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62516753	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62516754	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62516755	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62516756	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62516757	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62516758	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62516759	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518160	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518180	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518181	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518182	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518183	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518184	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62518185	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518186	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518187	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518188	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518189	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518190	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518191	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518192	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518193	1.00[EUR][1000 genomes]
rs62518194	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518195	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518196	1.00[EUR][1000 genomes]
rs62518197	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62518198	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62518199	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62518200	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518201	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518202	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518203	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518204	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518205	1.00[EUR][1000 genomes]
rs62518206	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518207	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518208	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518209	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518210	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518211	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518212	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518213	1.00[EUR][1000 genomes]
rs62518215	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518216	1.00[EUR][1000 genomes]
rs62518217	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518218	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518219	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518220	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62518226	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518227	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518228	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518229	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987323	0.90[EUR][1000 genomes]
rs6997994	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7000956	0.90[EUR][1000 genomes]
rs7002613	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7002873	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7008076	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7015920	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7815274	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7818409	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7818711	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7823429	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7824160	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes]
rs7824783	1.00[EUR][1000 genomes]
rs7832104	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7838246	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7839973	0.93[EUR][1000 genomes]
rs7844824	0.93[EUR][1000 genomes]
rs9298625	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs9298626	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs9298627	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS 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 miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1030451	chr8:42543326-42618390	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1034121	chr8:42549810-42618713	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42574000-42576800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr8:42574000-42577400	Enhancers	HUVEC	blood vessel
3	chr8:42574200-42576600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:42574200-42577200	Enhancers	NHLF	lung
5	chr8:42574200-42577800	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr8:42574200-42578000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr8:42574200-42578000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr8:42574400-42577200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:42574400-42578800	Enhancers	Fetal Thymus	thymus
10	chr8:42574600-42576600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:42574600-42578000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr8:42574800-42576600	Enhancers	Osteobl	bone
13	chr8:42574800-42577200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:42574800-42577200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:42574800-42577200	Enhancers	HMEC	breast
16	chr8:42574800-42577200	Enhancers	HSMMtube	muscle
17	chr8:42574800-42577400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr8:42574800-42577600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr8:42574800-42577600	Enhancers	Pancreas	Pancrea
20	chr8:42574800-42577800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:42574800-42577800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr8:42574800-42578000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr8:42575000-42576600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:42575000-42577200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr8:42575000-42577400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:42575600-42576600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:42575600-42577000	Flanking Active TSS	Thymus	Thymus
28	chr8:42575600-42577400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:42575600-42577600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:42575600-42579000	Enhancers	HepG2	liver
31	chr8:42575800-42576600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:42575800-42576600	Enhancers	Fetal Heart	heart
33	chr8:42575800-42576800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:42575800-42577200	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr8:42575800-42577600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:42575800-42579400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:42576000-42576600	Enhancers	Right Atrium	heart
38	chr8:42576000-42577200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:42576200-42576600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:42576200-42576600	Enhancers	Fetal Intestine Large	intestine
41	chr8:42576200-42576600	Enhancers	NHDF-Ad	bronchial
42	chr8:42576400-42577200	Enhancers	HSMM	muscle
43	chr8:42576400-42577200	Enhancers	NHEK	skin
44	chr8:42576400-42577400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr8:42576400-42578000	Enhancers	A549	lung

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