Variant report

Variant	rs7193066
Chromosome Location	chr16:75689521-75689522
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75688504..75690013-chr16:75704731..75707189,2	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10871314	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11149842	0.80[JPT][hapmap]
rs12443899	0.81[AMR][1000 genomes]
rs12445389	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12445937	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12446652	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12595883	1.00[CEU][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12596033	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12596724	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12596857	0.80[AMR][1000 genomes]
rs12598094	0.93[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12598741	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12598751	1.00[CEU][hapmap];0.92[GIH][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12599212	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12599322	0.86[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12600066	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12600271	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16940253	0.83[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs16940467	0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17697211	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17764821	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]
rs17764918	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1812507	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1836547	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1865493	0.86[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1979717	1.00[CEU][hapmap];0.80[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2164245	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2242406	1.00[CEU][hapmap];0.92[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2278469	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2289063	1.00[CEU][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2903096	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35977374	0.82[AMR][1000 genomes]
rs3736377	0.96[MEX][hapmap];0.83[AMR][1000 genomes]
rs3743599	1.00[CEU][hapmap];0.80[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3743601	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3743603	0.93[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3743605	0.84[AMR][1000 genomes]
rs3784929	0.80[CHD][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap]
rs3851741	0.87[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes]
rs41505349	0.86[CHD][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap]
rs4633754	0.82[AMR][1000 genomes]
rs4887833	0.82[AMR][1000 genomes]
rs4887835	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4887836	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4887837	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4888436	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4888437	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4888440	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4888442	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4888444	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs4888448	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4888449	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4888451	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5010692	0.86[CHD][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap]
rs56954102	0.81[AMR][1000 genomes]
rs57208266	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57252551	0.85[AMR][1000 genomes]
rs57396453	0.80[AMR][1000 genomes]
rs58091977	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58273293	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58508930	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58533792	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58597869	0.89[AMR][1000 genomes]
rs58673511	0.83[AMR][1000 genomes]
rs58719566	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58846463	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59449831	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59907199	0.83[AMR][1000 genomes]
rs60393074	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60952428	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61036571	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61078946	0.84[AMR][1000 genomes]
rs61183686	0.84[AMR][1000 genomes]
rs61537885	0.91[EUR][1000 genomes]
rs61539645	0.81[AMR][1000 genomes]
rs6564268	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7187419	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7187672	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7195338	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs719574	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7206799	0.85[AMR][1000 genomes];0.85[EUR][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];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8053219	1.00[CEU][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes]
rs8055329	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8056968	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8060972	0.87[JPT][hapmap]
rs8061505	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8192516	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs963820	0.86[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes]
rs9788802	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9934159	0.80[CHD][hapmap];0.87[JPT][hapmap];0.92[MEX][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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75683600-75689800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:75683800-75691800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:75683800-75692800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:75684400-75689800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:75684600-75695400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:75684800-75689800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr16:75686200-75689800	Weak transcription	Aorta	Aorta
8	chr16:75686200-75689800	Weak transcription	Pancreas	Pancrea
9	chr16:75686200-75690400	Weak transcription	Psoas Muscle	Psoas
10	chr16:75686200-75694400	Weak transcription	Right Atrium	heart
11	chr16:75686400-75695800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:75686600-75695200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr16:75687000-75693000	Strong transcription	K562	blood
14	chr16:75687000-75695400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr16:75687400-75690400	Strong transcription	Fetal Intestine Small	intestine
16	chr16:75687400-75691400	Weak transcription	Fetal Heart	heart
17	chr16:75687400-75692600	Strong transcription	Thymus	Thymus
18	chr16:75687400-75692800	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr16:75687400-75693000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr16:75687400-75693600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr16:75687400-75696000	Strong transcription	Fetal Muscle Trunk	muscle
22	chr16:75687600-75692400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr16:75687600-75692400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr16:75687600-75692400	Strong transcription	HepG2	liver
25	chr16:75687600-75693600	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr16:75687600-75694200	Strong transcription	Fetal Muscle Leg	muscle
27	chr16:75687600-75694600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr16:75687600-75695600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:75687600-75696000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr16:75687600-75696000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr16:75687600-75696400	Strong transcription	Primary B cells from cord blood	blood
32	chr16:75687600-75696400	Strong transcription	Fetal Stomach	stomach
33	chr16:75687800-75689600	Weak transcription	NHLF	lung
34	chr16:75687800-75691400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr16:75687800-75692200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr16:75687800-75692600	Strong transcription	Ovary	ovary
37	chr16:75687800-75693000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr16:75687800-75693000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr16:75687800-75693400	Strong transcription	Left Ventricle	heart
40	chr16:75687800-75694200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr16:75687800-75694600	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr16:75687800-75694800	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr16:75687800-75695400	Strong transcription	Fetal Thymus	thymus
44	chr16:75687800-75695800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr16:75687800-75696200	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr16:75687800-75696200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr16:75688000-75690000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr16:75688000-75692400	Strong transcription	NHEK	skin
49	chr16:75688000-75692800	Strong transcription	Adipose Nuclei	Adipose
50	chr16:75688000-75693000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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