Variant report

Variant	rs17764821
Chromosome Location	chr16:75685746-75685747
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10871314	0.82[AMR][1000 genomes]
rs11149842	0.81[JPT][hapmap]
rs12443899	0.81[AMR][1000 genomes]
rs12445389	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12445937	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12446652	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12595883	1.00[CEU][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes]
rs12596033	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12596724	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12596857	0.82[AMR][1000 genomes]
rs12598094	0.80[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12598741	1.00[CEU][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12598751	1.00[CEU][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12599212	0.88[AMR][1000 genomes]
rs12599322	0.94[JPT][hapmap];0.90[AMR][1000 genomes]
rs12600066	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12600271	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16940253	0.87[JPT][hapmap];0.85[AMR][1000 genomes]
rs16940467	0.85[CEU][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes]
rs16941533	0.80[AMR][1000 genomes]
rs17697211	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17764918	0.83[AMR][1000 genomes]
rs1812507	0.88[AMR][1000 genomes]
rs1836547	0.99[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1865493	0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1979717	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2164245	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2242406	1.00[CEU][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes]
rs2278469	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2289063	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2903096	0.82[CEU][hapmap];0.83[AMR][1000 genomes]
rs35977374	0.82[AMR][1000 genomes]
rs3736377	0.83[AMR][1000 genomes]
rs3743599	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3743601	1.00[CEU][hapmap];0.88[AMR][1000 genomes]
rs3743603	0.80[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3743605	0.84[AMR][1000 genomes]
rs3784929	0.87[JPT][hapmap]
rs3851741	0.82[JPT][hapmap];0.82[AMR][1000 genomes]
rs41505349	0.87[JPT][hapmap];0.81[AMR][1000 genomes]
rs4633754	0.82[AMR][1000 genomes]
rs4887833	0.82[AMR][1000 genomes]
rs4887835	0.83[AMR][1000 genomes]
rs4887836	0.82[CEU][hapmap];0.83[AMR][1000 genomes]
rs4887837	0.83[AMR][1000 genomes]
rs4888436	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4888437	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4888440	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4888442	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4888444	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs4888448	0.83[AMR][1000 genomes]
rs4888449	0.83[AMR][1000 genomes]
rs4888451	0.82[CEU][hapmap];0.83[AMR][1000 genomes]
rs5010692	0.87[JPT][hapmap];0.80[AMR][1000 genomes]
rs56954102	0.81[AMR][1000 genomes]
rs57208266	0.81[AMR][1000 genomes]
rs57252551	0.85[AMR][1000 genomes]
rs57396453	0.83[AMR][1000 genomes]
rs58091977	0.83[AMR][1000 genomes]
rs58273293	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58508930	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58533792	0.84[AMR][1000 genomes]
rs58597869	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58673511	0.83[AMR][1000 genomes]
rs58719566	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs58846463	0.84[AMR][1000 genomes]
rs59449831	0.83[AMR][1000 genomes]
rs59907199	0.83[AMR][1000 genomes]
rs60393074	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs60952428	0.90[AMR][1000 genomes]
rs61036571	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61078946	0.84[AMR][1000 genomes]
rs61183686	0.84[AMR][1000 genomes]
rs61537885	0.80[EUR][1000 genomes]
rs61539645	0.84[AMR][1000 genomes]
rs6564268	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7186966	0.81[AMR][1000 genomes]
rs7187419	0.83[AMR][1000 genomes]
rs7187672	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7193066	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7195338	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs719574	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7206799	0.88[AMR][1000 genomes]
rs74027438	0.84[AMR][1000 genomes]
rs7499759	0.89[AMR][1000 genomes]
rs8048533	0.82[AMR][1000 genomes]
rs8051713	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8053219	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs8055329	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8056968	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8060972	0.87[JPT][hapmap]
rs8192516	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs963820	0.93[JPT][hapmap];0.91[AMR][1000 genomes]
rs9788802	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9934159	0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1062010	chr16:75628562-75825725	Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1064880	chr16:75628562-75895699	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv542960	chr16:75628562-75895699	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1065543	chr16:75631306-75800170	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active 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	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75680800-75686200	Active TSS	Ovary	ovary
2	chr16:75683400-75686000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr16:75683400-75686200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr16:75683400-75686400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr16:75683600-75685800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr16:75683600-75686200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:75683600-75686200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr16:75683600-75686200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr16:75683600-75686400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr16:75683600-75689800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr16:75683800-75686200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr16:75683800-75686800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr16:75683800-75691800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr16:75683800-75692800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr16:75684200-75685800	Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr16:75684200-75685800	Enhancers	A549	lung
17	chr16:75684200-75686200	Enhancers	Spleen	Spleen
18	chr16:75684200-75687400	Enhancers	Fetal Heart	heart
19	chr16:75684400-75686000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr16:75684400-75686200	Enhancers	Placenta	Placenta
21	chr16:75684400-75686200	Enhancers	Psoas Muscle	Psoas
22	chr16:75684400-75686600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr16:75684400-75686800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr16:75684400-75687600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr16:75684400-75687800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr16:75684400-75688200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr16:75684400-75689000	Weak transcription	HSMMtube	muscle
28	chr16:75684400-75689400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr16:75684400-75689400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr16:75684400-75689800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:75684600-75686000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr16:75684600-75686200	Enhancers	Right Ventricle	heart
33	chr16:75684600-75686400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr16:75684600-75687000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
35	chr16:75684600-75687400	Weak transcription	Fetal Intestine Small	intestine
36	chr16:75684600-75688000	Weak transcription	Fetal Intestine Large	intestine
37	chr16:75684600-75695400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr16:75684800-75685800	Enhancers	Aorta	Aorta
39	chr16:75684800-75686000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr16:75684800-75686000	Active TSS	Right Atrium	heart
41	chr16:75684800-75686200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr16:75684800-75686200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr16:75684800-75686200	Genic enhancers	Fetal Lung	lung
44	chr16:75684800-75686200	Enhancers	Pancreas	Pancrea
45	chr16:75684800-75686200	Flanking Active TSS	Dnd41	blood
46	chr16:75684800-75686200	Enhancers	HMEC	breast
47	chr16:75684800-75686400	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr16:75684800-75686800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr16:75684800-75686800	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr16:75684800-75687400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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