Variant report

Variant	rs7009678
Chromosome Location	chr8:67990001-67990002
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67981900..67985386-chr8:67987036..67990372,4	K562	blood:
2	chr8:67981584..67984987-chr8:67987255..67990503,3	MCF-7	breast:

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs1138476	1.00[CEU][hapmap];0.82[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11985037	1.00[CEU][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11986053	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11986982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11988175	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11989855	1.00[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11990088	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992605	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs11992626	1.00[CEU][hapmap];0.82[MEX][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995853	0.81[EUR][1000 genomes]
rs11997189	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11997404	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.85[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs1466283	1.00[CEU][hapmap];0.82[MEX][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16919053	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs16933071	0.84[EUR][1000 genomes]
rs16933092	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap]
rs16933094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap]
rs16933097	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs16933106	1.00[JPT][hapmap]
rs16933125	1.00[CEU][hapmap]
rs16933132	1.00[JPT][hapmap]
rs16933138	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs16933139	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs16933148	1.00[CEU][hapmap];0.82[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933160	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs16933162	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs16933170	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs16933173	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs16933178	1.00[CEU][hapmap];0.82[MEX][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933182	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.85[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs16933190	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap]
rs16933204	1.00[JPT][hapmap]
rs1808140	1.00[JPT][hapmap]
rs2290585	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs2290586	1.00[JPT][hapmap]
rs2305672	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs2305673	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs28377622	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3779995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs4364616	1.00[JPT][hapmap]
rs4592015	1.00[JPT][hapmap]
rs55783506	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55908039	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs55993413	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs56070137	0.84[EUR][1000 genomes]
rs56115408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56717011	0.84[EUR][1000 genomes]
rs56902031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57530222	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57931195	0.84[EUR][1000 genomes]
rs58160220	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58307420	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59061775	0.83[EUR][1000 genomes]
rs60167783	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60624770	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60964596	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61476700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61552467	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984568	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6984597	1.00[JPT][hapmap]
rs6984650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6988547	1.00[JPT][hapmap]
rs6990298	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6991974	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs6998170	1.00[JPT][hapmap]
rs6998290	1.00[JPT][hapmap]
rs7000650	1.00[JPT][hapmap]
rs7003018	1.00[JPT][hapmap]
rs7004549	1.00[CEU][hapmap];0.82[MEX][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7005014	1.00[JPT][hapmap]
rs7008877	1.00[JPT][hapmap]
rs73691159	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73691161	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691183	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691187	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693114	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693117	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693129	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73693136	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73693148	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73693149	0.84[EUR][1000 genomes]
rs73693150	0.84[EUR][1000 genomes]
rs73693151	0.84[EUR][1000 genomes]
rs7461383	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7816746	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7819894	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap]
rs7819895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7824775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7828748	1.00[JPT][hapmap]
rs7831052	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7833956	1.00[JPT][hapmap]
rs7834516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7841884	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016742	chr8:67917418-68125319	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv539639	chr8:67917418-68125319	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv890975	chr8:67983796-68032058	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv611458	chr8:67986890-68016482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv438063	chr8:67990001-67993426	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67977600-67998200	Weak transcription	Gastric	stomach
2	chr8:67977800-68009200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:67977800-68010000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr8:67977800-68013800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr8:67977800-68021800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:67977800-68044000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:67978000-67995400	Weak transcription	Colonic Mucosa	Colon
8	chr8:67978000-67996800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:67978000-68012200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:67978200-67990600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:67978200-67992000	Weak transcription	Aorta	Aorta
12	chr8:67978200-67992600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:67978200-68006000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:67978200-68012600	Weak transcription	HUVEC	blood vessel
15	chr8:67978200-68074400	Weak transcription	Esophagus	oesophagus
16	chr8:67978400-68044800	Weak transcription	Brain Angular Gyrus	brain
17	chr8:67978400-68045600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr8:67978600-67990600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:67978600-67992200	Weak transcription	Osteobl	bone
20	chr8:67978600-67998000	Weak transcription	NHEK	skin
21	chr8:67978600-68007000	Weak transcription	Brain Substantia Nigra	brain
22	chr8:67978600-68008000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:67978600-68031200	Weak transcription	Fetal Heart	heart
24	chr8:67978600-68074200	Weak transcription	Psoas Muscle	Psoas
25	chr8:67978800-67990600	Weak transcription	Fetal Thymus	thymus
26	chr8:67978800-67992600	Weak transcription	HSMMtube	muscle
27	chr8:67978800-68044200	Weak transcription	Colon Smooth Muscle	Colon
28	chr8:67979400-68013200	Weak transcription	Pancreas	Pancrea
29	chr8:67981200-67990800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:67981600-67990400	Weak transcription	NHLF	lung
31	chr8:67984200-68009200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr8:67986200-67993200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr8:67986400-67993600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:67986400-68045400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:67986600-67992200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:67986600-67993200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:67986600-67993600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:67986600-67995200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:67986800-67993400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr8:67987000-67990600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:67987200-67993200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr8:67987200-67993200	Strong transcription	Fetal Muscle Trunk	muscle
43	chr8:67987200-67993200	Strong transcription	Placenta	Placenta
44	chr8:67987200-67993200	Strong transcription	Hela-S3	cervix
45	chr8:67987200-67993400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:67987200-67993400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:67987200-67993400	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr8:67987200-67993600	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr8:67987200-67993600	Strong transcription	Liver	Liver
50	chr8:67987200-67994000	Strong transcription	HUES6 Cell Line	embryonic stem cell

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