Variant report

Variant	rs4495387
Chromosome Location	chr8:91650997-91650998
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:91650893..91653020-chr8:91682221..91684113,2	K562	blood:
2	chr8:91648857..91651852-chr8:91816769..91819769,4	K562	blood:
3	chr8:91649798..91652674-chr8:91731114..91733999,2	K562	blood:
4	chr1:78443392..78444979-chr8:91649478..91652346,2	MCF-7	breast:
5	chr8:91649829..91653898-chr8:91923286..91927799,5	MCF-7	breast:
6	chr8:91650303..91653276-chr8:91994300..91997122,2	K562	blood:
7	chr8:91648844..91651192-chr8:91678882..91680652,2	K562	blood:
8	chr8:91649679..91651282-chr8:91705770..91708113,2	MCF-7	breast:
9	chr8:91650629..91653115-chr8:91682985..91684904,2	MCF-7	breast:
10	chr8:91649928..91652200-chr8:91774063..91776914,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162613	Chromatin interaction
ENSG00000162616	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10086401	0.81[ASN][1000 genomes]
rs10091275	0.81[ASN][1000 genomes]
rs10103198	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10112242	0.88[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1028255	0.81[CEU][hapmap]
rs10283086	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10504894	0.88[CEU][hapmap]
rs10808619	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10808620	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10956720	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10956730	0.85[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10956736	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10956748	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956749	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956750	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11776824	0.83[ASN][1000 genomes]
rs11779312	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11784529	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12545279	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12545351	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12545726	0.81[EUR][1000 genomes]
rs12547016	0.81[ASN][1000 genomes]
rs12548741	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12548806	0.81[ASN][1000 genomes]
rs12678527	0.88[CEU][hapmap]
rs12680211	0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13254212	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13255452	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13262354	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13266461	0.84[CEU][hapmap]
rs13267989	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13268594	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13277387	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.84[YRI][hapmap]
rs13279222	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13279263	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1476427	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1476428	0.83[ASN][1000 genomes]
rs16905041	0.85[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1858673	0.81[ASN][1000 genomes]
rs1858674	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2023624	0.92[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2023626	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2073640	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2105965	0.96[CEU][hapmap];0.80[CHB][hapmap];0.82[EUR][1000 genomes]
rs2105967	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2105968	0.85[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2157607	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2187981	0.83[ASN][1000 genomes]
rs2187982	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2205151	0.87[CEU][hapmap]
rs2205152	0.91[CEU][hapmap]
rs2213886	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2223010	0.81[CEU][hapmap]
rs2285231	0.83[EUR][1000 genomes]
rs2285232	0.81[ASN][1000 genomes]
rs2285233	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34126139	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35159732	0.91[EUR][1000 genomes]
rs35409073	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36046037	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3950221	0.84[CEU][hapmap]
rs4140679	0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs4140680	0.81[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4495386	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4734250	0.85[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4734266	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4734268	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4734269	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4735201	0.91[CEU][hapmap]
rs4735210	0.83[ASN][1000 genomes]
rs4735230	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4735236	0.81[CHB][hapmap]
rs4735256	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4735260	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4735268	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4735295	0.84[CEU][hapmap]
rs5005585	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62526886	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6986001	0.92[CEU][hapmap];0.85[CHB][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6986088	0.82[EUR][1000 genomes]
rs6986359	0.92[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6986689	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6988302	0.81[CEU][hapmap]
rs6988733	0.82[EUR][1000 genomes]
rs6989123	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6998150	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6999898	0.92[CEU][hapmap];0.85[CHB][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7002775	0.83[CEU][hapmap]
rs7004287	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7006279	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7007102	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7007129	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7008765	0.96[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7013893	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7014073	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7014967	0.81[ASN][1000 genomes]
rs7016220	0.81[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7017295	0.83[CEU][hapmap]
rs715057	0.88[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7463641	0.80[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs756568	0.81[ASN][1000 genomes]
rs756569	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7812970	0.82[EUR][1000 genomes]
rs7817954	0.82[EUR][1000 genomes]
rs7819519	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7823461	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7824376	0.88[CEU][hapmap]
rs7824511	0.88[CEU][hapmap]
rs7826178	0.92[CEU][hapmap];0.85[CHB][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7837109	0.88[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7837230	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7840846	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9297857	0.81[CEU][hapmap]
rs9297871	0.81[ASN][1000 genomes]
rs9642910	0.83[CEU][hapmap]
rs9643298	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9643307	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9643308	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9693182	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9694450	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827745	chr8:91623737-91660193	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91620400-91652200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:91624000-91654800	Weak transcription	Pancreas	Pancrea
3	chr8:91624200-91652200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:91628600-91652000	Weak transcription	HUVEC	blood vessel
5	chr8:91629200-91653400	Weak transcription	Ovary	ovary
6	chr8:91629200-91654600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:91629600-91654400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:91630600-91653600	Weak transcription	Fetal Intestine Small	intestine
9	chr8:91630600-91654200	Weak transcription	HSMMtube	muscle
10	chr8:91630600-91654400	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:91630600-91655000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:91630600-91656800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:91630800-91652200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:91630800-91654400	Weak transcription	Fetal Intestine Large	intestine
15	chr8:91631000-91654800	Weak transcription	NH-A	brain
16	chr8:91631200-91654400	Weak transcription	Psoas Muscle	Psoas
17	chr8:91632000-91656800	Weak transcription	Left Ventricle	heart
18	chr8:91632400-91652200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:91632800-91654600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:91633200-91652200	Weak transcription	NHLF	lung
21	chr8:91634800-91652200	Weak transcription	Hela-S3	cervix
22	chr8:91637600-91652200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr8:91638200-91654800	Weak transcription	Placenta	Placenta
24	chr8:91638800-91651600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr8:91640800-91654600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:91641000-91654600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr8:91641600-91652200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:91641600-91654800	Weak transcription	Primary T cells from cord blood	blood
29	chr8:91643200-91655400	Weak transcription	Brain Germinal Matrix	brain
30	chr8:91643200-91657200	Weak transcription	Gastric	stomach
31	chr8:91645600-91653800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr8:91645800-91653200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:91645800-91654800	Weak transcription	HSMM	muscle
34	chr8:91646000-91652200	Weak transcription	NHEK	skin
35	chr8:91647400-91652200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:91647800-91656600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr8:91648800-91651000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:91648800-91651400	Enhancers	Brain Cingulate Gyrus	brain
39	chr8:91648800-91651600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr8:91648800-91652600	Enhancers	Brain Hippocampus Middle	brain
41	chr8:91648800-91653600	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr8:91649000-91651000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:91649000-91651200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:91649000-91651200	Enhancers	Brain Angular Gyrus	brain
45	chr8:91649000-91651200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:91649000-91652200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr8:91649000-91652600	Enhancers	Brain Anterior Caudate	brain
48	chr8:91649000-91653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:91649000-91655600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr8:91649200-91651000	Enhancers	Primary T helper cells fromperipheralblood	blood

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