Variant report

Variant	rs1466283
Chromosome Location	chr8:68091026-68091027
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:68085116..68087997-chr8:68090501..68093415,2	MCF-7	breast:
2	chr8:68086366..68088943-chr8:68089390..68092288,2	K562	blood:
3	chr8:68086057..68088943-chr8:68089390..68093675,3	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1138476	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs11985037	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11986053	1.00[CHB][hapmap]
rs11986982	1.00[CEU][hapmap]
rs11988175	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11989855	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11990088	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11992626	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11995853	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997189	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11997404	1.00[CEU][hapmap]
rs16919053	0.82[MEX][hapmap]
rs16933125	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap]
rs16933138	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs16933139	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs16933148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs16933162	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs16933170	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs16933173	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs16933178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933182	1.00[CEU][hapmap]
rs16933190	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs17335495	1.00[ASN][1000 genomes]
rs2290585	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs2305672	0.82[MEX][hapmap]
rs2305673	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs28377622	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs55783506	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55908039	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55993413	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56070137	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56115408	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56902031	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57530222	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57931195	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58160220	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58307420	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59061775	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60167783	0.92[EUR][1000 genomes]
rs60624770	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs60964596	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61476700	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61552467	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6984568	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs6990298	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs7004549	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7009678	1.00[CEU][hapmap];0.82[MEX][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73691159	0.83[EUR][1000 genomes]
rs73691161	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73691183	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73691187	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73691188	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73691189	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73691190	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73691191	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73691194	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73693106	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73693110	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73693114	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73693117	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73693129	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693135	0.84[AMR][1000 genomes]
rs73693136	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693148	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693149	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693150	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693151	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7461383	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs7816746	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7819894	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs7819895	1.00[CEU][hapmap]
rs7831052	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834516	1.00[CEU][hapmap]
rs7841884	1.00[CEU][hapmap];0.82[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv1022561	chr8:68011159-68129755	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1024156	chr8:68018110-68130602	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539640	chr8:68018110-68130602	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1016128	chr8:68019177-68129755	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1028249	chr8:68022357-68127243	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1029236	chr8:68022357-68129755	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv1020062	chr8:68022357-68135111	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv1025996	chr8:68025803-68129755	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv1019276	chr8:68026084-68130602	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv539641	chr8:68026084-68130602	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv1026508	chr8:68038761-68135111	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68024200-68092400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr8:68070600-68091200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:68074800-68106200	Weak transcription	Colonic Mucosa	Colon
4	chr8:68075000-68107200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:68075200-68136800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:68075400-68102200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr8:68075400-68104600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr8:68075600-68102800	Weak transcription	Psoas Muscle	Psoas
9	chr8:68075800-68110800	Weak transcription	HepG2	liver
10	chr8:68075800-68112200	Weak transcription	Stomach Mucosa	stomach
11	chr8:68076000-68103000	Weak transcription	NHDF-Ad	bronchial
12	chr8:68076000-68107000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:68076400-68092400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:68076800-68109000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:68077200-68108000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr8:68078800-68110400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:68079000-68094400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:68084600-68091800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:68084600-68094200	Strong transcription	Liver	Liver
20	chr8:68084600-68094400	Strong transcription	Fetal Muscle Leg	muscle
21	chr8:68084600-68098400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:68084800-68094200	Strong transcription	Primary T cells from cord blood	blood
23	chr8:68085000-68091800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:68085000-68095800	Strong transcription	Fetal Lung	lung
25	chr8:68085200-68095800	Strong transcription	Dnd41	blood
26	chr8:68085400-68095600	Strong transcription	NH-A	brain
27	chr8:68086000-68092400	Strong transcription	Primary B cells from cord blood	blood
28	chr8:68086200-68094000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:68086400-68091800	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr8:68086400-68096600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:68086600-68095000	Weak transcription	Hela-S3	cervix
32	chr8:68086800-68095600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:68087000-68091600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:68087000-68091600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr8:68087000-68092000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:68087000-68092600	Strong transcription	K562	blood
37	chr8:68087000-68093400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:68087000-68093400	Strong transcription	Fetal Intestine Large	intestine
39	chr8:68087000-68094400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr8:68087000-68095600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr8:68087000-68096000	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr8:68087200-68091400	Strong transcription	Adipose Nuclei	Adipose
43	chr8:68087200-68092200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:68087200-68092400	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr8:68087200-68092600	Strong transcription	Primary hematopoietic stem cells	blood
46	chr8:68087200-68093400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:68087200-68094400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:68087200-68095800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr8:68087200-68096000	Strong transcription	Placenta	Placenta
50	chr8:68087400-68094200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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