Variant report

Variant	rs7188693
Chromosome Location	chr16:69930667-69930668
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10400955	1.00[EUR][1000 genomes]
rs11510266	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11860910	1.00[EUR][1000 genomes]
rs13333561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13335267	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13335499	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13338793	0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28522432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28538568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28611042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28753861	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28788800	1.00[EUR][1000 genomes]
rs3790076	0.83[YRI][hapmap]
rs45568735	1.00[EUR][1000 genomes]
rs45608334	1.00[EUR][1000 genomes]
rs56182388	1.00[EUR][1000 genomes]
rs57154889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58892726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60137705	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60683406	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60949042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61731358	1.00[EUR][1000 genomes]
rs7184392	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7185321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7185659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7186422	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7189022	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7189521	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs7190665	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7191138	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7193149	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs7197774	1.00[EUR][1000 genomes]
rs7199881	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7200168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7200242	1.00[EUR][1000 genomes]
rs74029722	1.00[EUR][1000 genomes]
rs74029725	1.00[EUR][1000 genomes]
rs74029732	1.00[EUR][1000 genomes]
rs74029733	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74029738	1.00[EUR][1000 genomes]
rs74029748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8052959	1.00[EUR][1000 genomes]
rs9921205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9925155	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9929073	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9934685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9934743	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9934983	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9935008	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9939065	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9940805	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1062171	chr16:69854267-70188585	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats 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 miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv542941	chr16:69854267-70188585	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1059249	chr16:69854467-70188446	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription 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 miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv542942	chr16:69854467-70188446	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69893000-69934800	Weak transcription	Hela-S3	cervix
2	chr16:69900800-69933400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr16:69904200-69951200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr16:69907600-69942600	Weak transcription	Small Intestine	intestine
5	chr16:69908200-69943000	Weak transcription	Right Ventricle	heart
6	chr16:69910600-69937400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr16:69911400-69970200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr16:69913600-69950400	Weak transcription	A549	lung
9	chr16:69916400-69931600	Strong transcription	Primary B cells from cord blood	blood
10	chr16:69916400-69931600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr16:69919800-69932400	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr16:69921400-69938800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr16:69921600-69932800	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr16:69923200-69938600	Weak transcription	Ovary	ovary
15	chr16:69923600-69942600	Weak transcription	Pancreas	Pancrea
16	chr16:69923600-69944800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr16:69923800-69931400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr16:69923800-69936000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr16:69923800-69936400	Weak transcription	Lung	lung
20	chr16:69923800-69938600	Weak transcription	Aorta	Aorta
21	chr16:69923800-69938600	Weak transcription	K562	blood
22	chr16:69923800-69939800	Weak transcription	HSMM	muscle
23	chr16:69923800-69940400	Weak transcription	HSMMtube	muscle
24	chr16:69923800-69942400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr16:69923800-69949200	Weak transcription	Dnd41	blood
26	chr16:69923800-69951800	Weak transcription	GM12878-XiMat	blood
27	chr16:69924000-69942600	Weak transcription	NHEK	skin
28	chr16:69924200-69936000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr16:69924400-69936000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr16:69924400-69965000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr16:69924600-69934600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr16:69924600-69942600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr16:69924800-69934800	Weak transcription	NH-A	brain
34	chr16:69924800-69940400	Weak transcription	HMEC	breast
35	chr16:69925000-69934600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr16:69925000-69934800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr16:69925000-69939600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr16:69925000-69940200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr16:69925000-69942400	Weak transcription	Esophagus	oesophagus
40	chr16:69925000-69942600	Weak transcription	Colonic Mucosa	Colon
41	chr16:69925000-69942800	Weak transcription	Fetal Lung	lung
42	chr16:69925200-69939200	Strong transcription	Fetal Intestine Small	intestine
43	chr16:69925200-69940200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:69925400-69937800	Weak transcription	Adipose Nuclei	Adipose
45	chr16:69925400-69951200	Weak transcription	Fetal Kidney	kidney
46	chr16:69925600-69936000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr16:69925600-69936000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr16:69925600-69938400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr16:69925800-69934600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr16:69925800-69934800	Weak transcription	Colon Smooth Muscle	Colon

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