Variant report

Variant	rs73261277
Chromosome Location	chr8:61515656-61515657
allele	A/C
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:52)

rs_ID	r²[population]
rs16926265	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926273	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56957672	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57207257	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57310966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58443130	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58486252	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58847436	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58916286	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58933078	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59531479	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60075768	1.00[EUR][1000 genomes]
rs60448147	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60730808	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60880721	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61277001	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61514087	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990951	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003631	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013829	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018346	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243809	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253446	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253452	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253470	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255451	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255459	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255467	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255485	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257441	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257447	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257453	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257469	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257475	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257492	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259409	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259412	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259436	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73259441	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259444	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259456	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259478	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259486	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261232	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261235	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261240	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817907	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826092	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839296	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7846100	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	chr8:61466400-61516800	Weak transcription	Stomach Mucosa	stomach
2	chr8:61476200-61517000	Weak transcription	Brain Angular Gyrus	brain
3	chr8:61481000-61527400	Weak transcription	Psoas Muscle	Psoas
4	chr8:61483800-61515800	Weak transcription	Colonic Mucosa	Colon
5	chr8:61491400-61517000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:61493600-61518000	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr8:61495600-61516600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:61495600-61517000	Weak transcription	Pancreas	Pancrea
9	chr8:61495600-61517200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:61495600-61517600	Weak transcription	Spleen	Spleen
11	chr8:61496800-61517200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:61498200-61517200	Weak transcription	Gastric	stomach
13	chr8:61499400-61516600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:61500400-61542200	Weak transcription	Hela-S3	cervix
15	chr8:61503400-61517200	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr8:61504000-61517000	Strong transcription	Fetal Thymus	thymus
17	chr8:61504400-61516600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:61504400-61517200	Strong transcription	Adipose Nuclei	Adipose
19	chr8:61506000-61516800	Weak transcription	Small Intestine	intestine
20	chr8:61506000-61517000	Weak transcription	Esophagus	oesophagus
21	chr8:61506000-61523200	Weak transcription	Fetal Heart	heart
22	chr8:61506000-61532200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:61506200-61516200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:61506200-61517200	Weak transcription	Aorta	Aorta
25	chr8:61506200-61517200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:61506400-61532400	Weak transcription	NHLF	lung
27	chr8:61506600-61517400	Weak transcription	Brain Anterior Caudate	brain
28	chr8:61506800-61517600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr8:61506800-61517600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:61507600-61517400	Weak transcription	Brain Hippocampus Middle	brain
31	chr8:61508000-61521600	Weak transcription	NHEK	skin
32	chr8:61508600-61515800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr8:61508600-61516600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr8:61508800-61516400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr8:61508800-61533000	Weak transcription	HUVEC	blood vessel
36	chr8:61510200-61516400	Strong transcription	Liver	Liver
37	chr8:61510400-61517600	Strong transcription	HSMM	muscle
38	chr8:61511800-61517000	Weak transcription	Colon Smooth Muscle	Colon
39	chr8:61511800-61517200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr8:61512000-61517400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:61512000-61518200	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr8:61512200-61516200	Strong transcription	Primary hematopoietic stem cells	blood
43	chr8:61512400-61519600	Strong transcription	Osteobl	bone
44	chr8:61512400-61526200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:61512600-61516400	Strong transcription	Primary T cells from cord blood	blood
46	chr8:61512600-61516600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr8:61512600-61517400	Strong transcription	Fetal Intestine Large	intestine
48	chr8:61512600-61518200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:61512600-61518400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:61512600-61521800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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