Variant report

Variant	rs12675528
Chromosome Location	chr8:68225858-68225859
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:68223577..68225930-chr8:68248709..68251621,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10105795	0.99[ASN][1000 genomes]
rs10957381	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs10957384	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11774715	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11779287	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11986169	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995348	0.82[ASN][1000 genomes]
rs12674570	0.87[ASN][1000 genomes]
rs12674848	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12678025	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12678865	0.85[EUR][1000 genomes]
rs12679614	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12681292	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12681862	0.91[CHB][hapmap]
rs12682412	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13253205	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13255070	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13264289	0.96[ASN][1000 genomes]
rs13267015	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13270606	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13275593	0.95[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13280556	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1544986	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17425781	0.84[ASN][1000 genomes]
rs1821026	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2116130	0.87[ASN][1000 genomes]
rs28640047	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34132973	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34345865	0.87[ASN][1000 genomes]
rs34711984	0.87[ASN][1000 genomes]
rs35480743	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35754047	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35904049	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56186469	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57179217	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60196076	1.00[ASN][1000 genomes]
rs6472297	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs68086555	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6987724	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992604	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6993324	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7002191	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7002622	0.86[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap]
rs7013561	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs718348	0.95[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72654960	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7464980	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7812777	1.00[CEU][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812887	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7813810	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7817641	0.85[EUR][1000 genomes]
rs7818520	0.99[ASN][1000 genomes]
rs7820370	0.87[ASN][1000 genomes]
rs7822637	0.83[EUR][1000 genomes]
rs7823436	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7830183	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7841468	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7841756	0.95[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7844125	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[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	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1839724	chr8:68195817-68346693	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68155800-68226000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:68162400-68231000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:68173600-68236400	Weak transcription	Stomach Mucosa	stomach
4	chr8:68197800-68234200	Weak transcription	Aorta	Aorta
5	chr8:68208800-68226000	Weak transcription	A549	lung
6	chr8:68209600-68252400	Weak transcription	Fetal Kidney	kidney
7	chr8:68211600-68240800	Weak transcription	Fetal Brain Male	brain
8	chr8:68212200-68229000	Weak transcription	HepG2	liver
9	chr8:68212400-68228200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr8:68212800-68252400	Weak transcription	Hela-S3	cervix
11	chr8:68213200-68229000	Weak transcription	Small Intestine	intestine
12	chr8:68214000-68228200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:68214000-68234600	Weak transcription	HMEC	breast
14	chr8:68214400-68227600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr8:68214400-68228600	Weak transcription	Ovary	ovary
16	chr8:68218600-68226000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:68218800-68254200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:68220200-68226000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:68220200-68229000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:68220200-68251600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr8:68220200-68251800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:68220400-68226000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:68220400-68226000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:68220400-68228800	Weak transcription	NH-A	brain
25	chr8:68220400-68251400	Weak transcription	NHDF-Ad	bronchial
26	chr8:68220400-68251800	Weak transcription	NHLF	lung
27	chr8:68220600-68227800	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:68220600-68236400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr8:68220800-68228400	Weak transcription	Brain Anterior Caudate	brain
30	chr8:68220800-68228800	Weak transcription	Osteobl	bone
31	chr8:68221800-68229000	Weak transcription	HSMMtube	muscle
32	chr8:68224000-68227200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:68224200-68227200	Strong transcription	Primary T cells from cord blood	blood
34	chr8:68224600-68226200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:68224600-68226200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:68224600-68227200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr8:68224600-68251800	Weak transcription	HUVEC	blood vessel
38	chr8:68224800-68226400	Strong transcription	Fetal Lung	lung
39	chr8:68224800-68226600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:68225000-68226000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:68225000-68226400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:68225000-68226600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr8:68225000-68227200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:68225200-68226000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:68225200-68226000	Strong transcription	Primary hematopoietic stem cells	blood
46	chr8:68225200-68226400	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr8:68225200-68226400	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr8:68225200-68226600	Strong transcription	Liver	Liver
49	chr8:68225200-68226800	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr8:68225200-68226800	Strong transcription	Fetal Intestine Large	intestine

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