Variant report

Variant	rs56321533
Chromosome Location	chr8:54679161-54679162
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16919513	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16919526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16919566	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs41360051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57838567	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58446058	1.00[EUR][1000 genomes]
rs59122208	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59751066	1.00[EUR][1000 genomes]
rs61453862	1.00[EUR][1000 genomes]
rs6473892	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73680307	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73680313	1.00[EUR][1000 genomes]
rs73680318	1.00[EUR][1000 genomes]
rs73680324	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73682541	1.00[EUR][1000 genomes]
rs73682550	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73682559	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54650200-54707400	Weak transcription	HUVEC	blood vessel
2	chr8:54655400-54703600	Weak transcription	Brain Angular Gyrus	brain
3	chr8:54655800-54726000	Weak transcription	Colonic Mucosa	Colon
4	chr8:54656800-54680200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr8:54658400-54679600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:54664000-54680600	Weak transcription	Hela-S3	cervix
7	chr8:54664000-54680600	Weak transcription	K562	blood
8	chr8:54667600-54685800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:54667800-54680600	Weak transcription	Brain Anterior Caudate	brain
10	chr8:54667800-54687400	Weak transcription	Spleen	Spleen
11	chr8:54667800-54726200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:54668000-54680400	Weak transcription	Fetal Kidney	kidney
13	chr8:54668000-54680600	Weak transcription	HSMMtube	muscle
14	chr8:54668000-54680800	Weak transcription	HSMM	muscle
15	chr8:54668000-54687400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:54668000-54703000	Weak transcription	Brain Substantia Nigra	brain
17	chr8:54669200-54680200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:54669400-54687400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr8:54670200-54680400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:54670400-54679200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:54671200-54687000	Weak transcription	Fetal Brain Male	brain
22	chr8:54672000-54679800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:54672000-54680800	Weak transcription	Brain Germinal Matrix	brain
24	chr8:54673000-54679400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr8:54673000-54680200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:54673000-54680600	Weak transcription	NH-A	brain
27	chr8:54673000-54687400	Weak transcription	Small Intestine	intestine
28	chr8:54673200-54679800	Weak transcription	Fetal Lung	lung
29	chr8:54673200-54680400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr8:54673200-54680600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:54673200-54680600	Weak transcription	Liver	Liver
32	chr8:54673200-54681400	Weak transcription	Adipose Nuclei	Adipose
33	chr8:54673200-54687400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:54673400-54679200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr8:54673400-54679800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr8:54673400-54679800	Weak transcription	NHEK	skin
37	chr8:54673400-54680400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:54673400-54680600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr8:54673400-54680600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:54673400-54680600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:54673400-54680600	Weak transcription	HMEC	breast
42	chr8:54673400-54680800	Weak transcription	Osteobl	bone
43	chr8:54673400-54681600	Weak transcription	Placenta	Placenta
44	chr8:54673400-54683600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr8:54673400-54684000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:54673400-54687400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:54673400-54687600	Weak transcription	Esophagus	oesophagus
48	chr8:54673400-54687600	Weak transcription	Lung	lung
49	chr8:54673400-54698200	Weak transcription	Pancreas	Pancrea
50	chr8:54673400-54698400	Weak transcription	Gastric	stomach

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