Variant report

Variant	rs62515920
Chromosome Location	chr8:42794515-42794516
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs13248091	0.90[AMR][1000 genomes]
rs13249741	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13252221	0.90[AMR][1000 genomes]
rs13256221	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13260731	0.90[AMR][1000 genomes]
rs13269584	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13271956	0.90[AMR][1000 genomes]
rs13273189	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13273989	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13276426	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13276821	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13281651	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13282019	0.90[AMR][1000 genomes]
rs16891667	0.87[EUR][1000 genomes]
rs17622577	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17622732	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34044853	0.90[AMR][1000 genomes]
rs34143633	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34152125	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34210297	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34242561	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34320052	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34550994	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34582788	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34668583	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34742882	0.90[AMR][1000 genomes]
rs34920666	0.90[AMR][1000 genomes]
rs35057982	0.87[EUR][1000 genomes]
rs35168459	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35258203	0.85[AMR][1000 genomes]
rs35316170	0.90[AMR][1000 genomes]
rs35390123	0.90[AMR][1000 genomes]
rs35441746	0.90[AMR][1000 genomes]
rs35491765	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35823486	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35970125	0.90[AMR][1000 genomes]
rs36026629	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36091568	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4524778	0.89[EUR][1000 genomes]
rs62515905	0.87[EUR][1000 genomes]
rs62515908	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62515909	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62515910	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62515912	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62515913	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62515916	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62515917	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62515919	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62515948	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62515952	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62517590	0.90[AMR][1000 genomes]
rs62517594	0.90[AMR][1000 genomes]
rs62517595	0.81[AMR][1000 genomes]
rs62517599	0.90[AMR][1000 genomes]
rs62517604	0.85[AMR][1000 genomes]
rs62517605	0.90[AMR][1000 genomes]
rs62517606	0.90[AMR][1000 genomes]
rs62517626	0.90[AMR][1000 genomes]
rs6999489	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers 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	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	esv3391654	chr8:42772844-42799123	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
8	esv3374088	chr8:42772844-42802608	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42754000-42814200	Weak transcription	Fetal Thymus	thymus
2	chr8:42754400-42806400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:42754800-42812600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:42766800-42806800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:42772400-42800800	Weak transcription	Colonic Mucosa	Colon
6	chr8:42772600-42815400	Weak transcription	Gastric	stomach
7	chr8:42772600-42815400	Weak transcription	Psoas Muscle	Psoas
8	chr8:42774200-42806400	Weak transcription	Lung	lung
9	chr8:42775600-42814400	Weak transcription	Right Ventricle	heart
10	chr8:42776000-42796800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:42776000-42797800	Weak transcription	K562	blood
12	chr8:42776000-42802600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:42776000-42814400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:42776000-42874800	Weak transcription	Fetal Heart	heart
15	chr8:42776200-42810600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:42776400-42807200	Weak transcription	NHDF-Ad	bronchial
17	chr8:42776400-42814200	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:42777200-42805000	Weak transcription	A549	lung
19	chr8:42777400-42814400	Weak transcription	Spleen	Spleen
20	chr8:42779200-42815800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:42781200-42814400	Weak transcription	Pancreas	Pancrea
22	chr8:42782200-42798600	Weak transcription	Hela-S3	cervix
23	chr8:42782200-42806600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr8:42782600-42815400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr8:42786200-42805200	Weak transcription	Fetal Kidney	kidney
26	chr8:42786400-42797400	Weak transcription	NHEK	skin
27	chr8:42786400-42800800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr8:42786400-42806600	Weak transcription	NHLF	lung
29	chr8:42786400-42807200	Weak transcription	Esophagus	oesophagus
30	chr8:42786600-42805200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:42787800-42795400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:42787800-42796800	Weak transcription	Left Ventricle	heart
33	chr8:42787800-42798400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:42787800-42801200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:42787800-42805200	Weak transcription	HUVEC	blood vessel
36	chr8:42787800-42814200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:42787800-42820200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:42788000-42795400	Weak transcription	Fetal Brain Male	brain
39	chr8:42788000-42798400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr8:42788000-42806400	Weak transcription	Thymus	Thymus
41	chr8:42788000-42806600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr8:42788000-42806600	Weak transcription	HepG2	liver
43	chr8:42788000-42806800	Weak transcription	Aorta	Aorta
44	chr8:42788000-42806800	Weak transcription	HSMMtube	muscle
45	chr8:42788000-42807200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:42788000-42814200	Weak transcription	Brain Anterior Caudate	brain
47	chr8:42788000-42815400	Weak transcription	Brain Angular Gyrus	brain
48	chr8:42788200-42797400	Weak transcription	HMEC	breast
49	chr8:42788400-42796800	Weak transcription	Osteobl	bone
50	chr8:42788800-42796800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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