Variant report

Variant	rs58273293
Chromosome Location	chr16:75628094-75628095
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75599124..75600633-chr16:75627210..75629703,2	K562	blood:
2	chr16:75588547..75590728-chr16:75626355..75629184,4	K562	blood:
3	chr16:75623127..75625828-chr16:75626144..75628111,2	MCF-7	breast:
4	chr16:75602228..75603948-chr16:75626935..75628587,2	K562	blood:
5	chr16:75627208..75629939-chr16:75629940..75634197,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205084	Chromatin interaction
ENSG00000034713	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10871314	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11149842	0.84[AMR][1000 genomes]
rs12443899	0.81[EUR][1000 genomes]
rs12445389	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12445937	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12446652	0.99[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12595883	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12596033	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12596083	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12596724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12596857	0.84[ASN][1000 genomes]
rs12598094	0.99[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12598741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12598751	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12599212	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12599322	0.99[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12600066	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12600271	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16940253	0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16940467	0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17697211	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17764821	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17764918	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1812507	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1836547	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1865493	0.87[ASN][1000 genomes]
rs1979717	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2059261	0.84[AMR][1000 genomes]
rs2164245	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2242406	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2278469	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2289063	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2903096	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35977374	0.80[AMR][1000 genomes]
rs3736377	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs3743599	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3743601	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3743603	0.99[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3743605	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3826108	0.85[AMR][1000 genomes]
rs3851741	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4482320	0.86[AMR][1000 genomes]
rs4633754	0.80[AMR][1000 genomes]
rs4887833	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4887835	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4887836	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4887837	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4888436	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4888437	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4888440	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4888442	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4888444	0.87[EUR][1000 genomes]
rs4888448	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4888449	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4888451	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4888455	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56954102	0.81[EUR][1000 genomes]
rs57208266	0.87[EUR][1000 genomes]
rs57252551	0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs58091977	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58264015	0.84[AMR][1000 genomes]
rs58508930	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58533792	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58597869	0.97[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs58673511	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs58719566	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58846463	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59449831	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59907199	0.91[AMR][1000 genomes]
rs60393074	0.99[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60952428	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61036571	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61078946	0.83[AMR][1000 genomes]
rs61164110	0.83[AMR][1000 genomes]
rs61183686	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61537885	1.00[EUR][1000 genomes]
rs61539645	0.85[AMR][1000 genomes]
rs6564268	0.99[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7186966	0.84[ASN][1000 genomes]
rs7187419	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7187672	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7193066	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7195338	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs719574	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7206799	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73615030	0.82[ASN][1000 genomes]
rs74027438	0.93[AMR][1000 genomes]
rs7499759	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8048533	0.80[AMR][1000 genomes]
rs8051241	0.83[ASN][1000 genomes]
rs8051713	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8053219	0.82[AMR][1000 genomes]
rs8055329	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8056968	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8060972	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8192516	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs963820	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9788802	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9934159	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
4	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75607600-75630800	Weak transcription	Fetal Brain Male	brain
2	chr16:75610400-75634000	Weak transcription	Hela-S3	cervix
3	chr16:75610600-75633400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr16:75610600-75635200	Weak transcription	Fetal Kidney	kidney
5	chr16:75611400-75634000	Weak transcription	Colonic Mucosa	Colon
6	chr16:75611800-75628800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr16:75612000-75631000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr16:75612000-75635600	Weak transcription	Small Intestine	intestine
9	chr16:75612400-75631000	Weak transcription	Gastric	stomach
10	chr16:75612400-75631200	Weak transcription	Esophagus	oesophagus
11	chr16:75613200-75633400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr16:75613400-75630800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr16:75613400-75635200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr16:75613600-75630800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr16:75613600-75631000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr16:75613600-75633000	Weak transcription	Ovary	ovary
17	chr16:75613800-75630800	Weak transcription	HMEC	breast
18	chr16:75613800-75632800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr16:75614000-75629800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr16:75614400-75628400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr16:75614400-75630600	Weak transcription	Thymus	Thymus
22	chr16:75614400-75630800	Weak transcription	Liver	Liver
23	chr16:75614400-75630800	Weak transcription	Fetal Brain Female	brain
24	chr16:75614400-75631000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr16:75614400-75631000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr16:75614600-75628400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr16:75615000-75633400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr16:75615400-75631000	Weak transcription	Fetal Thymus	thymus
29	chr16:75619000-75630600	Weak transcription	Primary B cells from cord blood	blood
30	chr16:75619600-75630800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr16:75621000-75631000	Weak transcription	Pancreas	Pancrea
32	chr16:75621000-75631000	Weak transcription	Spleen	Spleen
33	chr16:75621200-75631000	Weak transcription	Brain Angular Gyrus	brain
34	chr16:75622000-75630800	Weak transcription	Placenta	Placenta
35	chr16:75623400-75630800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr16:75623600-75631000	Weak transcription	Lung	lung
37	chr16:75625200-75631200	Weak transcription	Aorta	Aorta
38	chr16:75625400-75630000	Weak transcription	Fetal Intestine Small	intestine
39	chr16:75625400-75631000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr16:75625400-75631200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr16:75625400-75635400	Weak transcription	Brain Substantia Nigra	brain
42	chr16:75625600-75628400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr16:75625600-75630800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr16:75625600-75630800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr16:75625600-75631200	Weak transcription	Brain Anterior Caudate	brain
46	chr16:75625600-75633400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr16:75625600-75648000	Weak transcription	Fetal Heart	heart
48	chr16:75626200-75628400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr16:75626200-75631000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr16:75626400-75628400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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