Variant report

Variant	rs73261234
Chromosome Location	chr8:61499269-61499270
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10504313	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11984591	1.00[ASN][1000 genomes]
rs11984682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11985737	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11987024	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11988169	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11988323	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11988389	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11991778	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11996337	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11997369	0.85[ASN][1000 genomes]
rs16926228	0.85[ASN][1000 genomes]
rs16926248	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926250	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16926256	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926277	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926304	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926305	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926308	1.00[ASN][1000 genomes]
rs16926311	1.00[ASN][1000 genomes]
rs16926338	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2326572	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2930038	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2930041	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2946149	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2946150	1.00[ASN][1000 genomes]
rs2981283	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60075768	0.87[ASN][1000 genomes]
rs60440859	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs60504642	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61174790	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61291329	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6471887	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6987831	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7000882	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7001063	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7005259	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7016173	1.00[ASN][1000 genomes]
rs73243810	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257409	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257414	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257427	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257433	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257434	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257435	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257440	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257481	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257484	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73257486	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257487	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257495	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73257499	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259425	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259430	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259438	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259453	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259488	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259499	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73261204	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73261219	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73261269	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7341555	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7341633	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7815886	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7816273	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7825285	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7827528	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7834982	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7839008	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv870164	chr8:61484657-61529482	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv6218	chr8:61485410-61530933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1796952	chr8:61492893-61531418	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61448600-61505400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:61466400-61516800	Weak transcription	Stomach Mucosa	stomach
3	chr8:61467200-61515400	Weak transcription	Fetal Brain Male	brain
4	chr8:61474200-61504000	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:61474800-61504000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:61476200-61504800	Weak transcription	NHLF	lung
7	chr8:61476200-61517000	Weak transcription	Brain Angular Gyrus	brain
8	chr8:61481000-61527400	Weak transcription	Psoas Muscle	Psoas
9	chr8:61481200-61504200	Weak transcription	HMEC	breast
10	chr8:61482800-61504000	Weak transcription	HSMMtube	muscle
11	chr8:61482800-61505800	Weak transcription	Esophagus	oesophagus
12	chr8:61483000-61501200	Weak transcription	NHEK	skin
13	chr8:61483400-61505800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:61483800-61515800	Weak transcription	Colonic Mucosa	Colon
15	chr8:61485400-61515400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:61485800-61504400	Weak transcription	Small Intestine	intestine
17	chr8:61487000-61504800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:61489400-61506600	Weak transcription	Fetal Brain Female	brain
19	chr8:61489400-61514000	Weak transcription	Right Ventricle	heart
20	chr8:61489600-61506000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:61489600-61510200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr8:61489800-61504800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr8:61491000-61505800	Weak transcription	Fetal Heart	heart
24	chr8:61491400-61517000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:61493000-61499800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr8:61493400-61501800	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr8:61493600-61501400	Strong transcription	Placenta	Placenta
28	chr8:61493600-61502000	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr8:61493600-61510400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:61493600-61518000	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr8:61493800-61499400	Strong transcription	Duodenum Mucosa	Duodenum
32	chr8:61493800-61499600	Strong transcription	Fetal Muscle Leg	muscle
33	chr8:61493800-61504400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:61494000-61502400	Strong transcription	Liver	Liver
35	chr8:61494400-61501400	Strong transcription	Fetal Thymus	thymus
36	chr8:61494600-61499400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:61494600-61503000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:61495000-61505200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr8:61495600-61516600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:61495600-61517000	Weak transcription	Pancreas	Pancrea
41	chr8:61495600-61517200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:61495600-61517600	Weak transcription	Spleen	Spleen
43	chr8:61495800-61501400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:61496200-61502400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:61496400-61500200	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr8:61496400-61501400	Strong transcription	Osteobl	bone
47	chr8:61496400-61502000	Strong transcription	HUVEC	blood vessel
48	chr8:61496400-61502200	Strong transcription	Fetal Muscle Trunk	muscle
49	chr8:61496400-61515400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr8:61496600-61499800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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