Variant report

Variant	rs8066144
Chromosome Location	chr17:38388191-38388192
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11078940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1130199	0.81[LWK][hapmap];0.83[MKK][hapmap]
rs12936565	0.81[LWK][hapmap];0.91[MKK][hapmap]
rs12937995	0.85[LWK][hapmap];0.91[MKK][hapmap]
rs12946680	0.81[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap]
rs13706	1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]
rs16965666	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs16965687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]
rs2077464	0.81[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap]
rs2120200	0.81[CHD][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs2280400	0.85[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap]
rs2314338	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs28537537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs34789145	0.83[LWK][hapmap];0.91[MKK][hapmap]
rs36030243	0.81[CHD][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs3744806	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs4077125	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap]
rs4566234	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap]
rs6503539	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap]
rs7211770	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs7217852	0.81[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap]
rs7224658	0.85[LWK][hapmap];0.87[MKK][hapmap]
rs7359537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]
rs7405635	1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap]
rs8065665	0.82[LWK][hapmap];0.83[MKK][hapmap]
rs8073925	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs8076915	0.83[LWK][hapmap];0.91[MKK][hapmap]
rs8082192	0.94[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap]
rs9303285	0.83[GIH][hapmap];0.89[TSI][hapmap]
rs9303286	1.00[CEU][hapmap]
rs9892946	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap]
rs9893520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]
rs9901109	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9904021	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap]
rs9904270	1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap]
rs9907683	0.84[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap]
rs9908034	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs9908257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9916460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]
rs9916782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.93[TSI][hapmap]

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	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv525796	chr17:38306365-38405037	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv522863	chr17:38388040-38405037	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv525961	chr17:38388040-38405037	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	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	chr17:38376600-38389200	Weak transcription	Esophagus	oesophagus
2	chr17:38376600-38389800	Weak transcription	Colonic Mucosa	Colon
3	chr17:38376600-38389800	Weak transcription	Ovary	ovary
4	chr17:38376600-38390400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr17:38376600-38392200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:38376600-38393200	Weak transcription	Fetal Heart	heart
7	chr17:38376600-38400400	Weak transcription	Psoas Muscle	Psoas
8	chr17:38376600-38412400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr17:38376600-38416800	Weak transcription	Aorta	Aorta
10	chr17:38376800-38388600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:38376800-38389200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr17:38376800-38389200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr17:38376800-38389200	Weak transcription	HUVEC	blood vessel
14	chr17:38376800-38389600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr17:38376800-38389600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr17:38376800-38390600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr17:38376800-38391400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr17:38376800-38391600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr17:38376800-38393600	Weak transcription	HMEC	breast
20	chr17:38377000-38418400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr17:38377200-38404800	Weak transcription	HSMMtube	muscle
22	chr17:38377400-38388400	Weak transcription	Lung	lung
23	chr17:38377400-38389200	Weak transcription	Gastric	stomach
24	chr17:38377400-38408000	Weak transcription	Small Intestine	intestine
25	chr17:38377600-38388600	Weak transcription	GM12878-XiMat	blood
26	chr17:38377600-38389200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr17:38377600-38412800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr17:38377800-38389200	Weak transcription	A549	lung
29	chr17:38377800-38390000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr17:38377800-38390800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr17:38377800-38400400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr17:38378800-38389000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr17:38378800-38389200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr17:38378800-38389200	Weak transcription	Left Ventricle	heart
35	chr17:38379000-38389200	Weak transcription	Dnd41	blood
36	chr17:38379200-38413000	Weak transcription	Pancreas	Pancrea
37	chr17:38381000-38389200	Weak transcription	Placenta	Placenta
38	chr17:38381200-38388600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr17:38381200-38389200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr17:38381200-38389200	Weak transcription	HSMM	muscle
41	chr17:38381200-38390600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr17:38381200-38391600	Weak transcription	Fetal Brain Male	brain
43	chr17:38381200-38412400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr17:38381400-38389000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr17:38381400-38389200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr17:38381400-38399000	Weak transcription	NHLF	lung
47	chr17:38381400-38407000	Weak transcription	Hela-S3	cervix
48	chr17:38381400-38407400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr17:38381400-38407400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr17:38381400-38407400	Weak transcription	Osteobl	bone

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