Variant report

Variant	rs58641534
Chromosome Location	chr8:42744023-42744024
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:42742667..42744267-chr8:42748653..42750322,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10453137	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11984488	0.85[AMR][1000 genomes]
rs11984550	0.85[AMR][1000 genomes]
rs11984732	1.00[EUR][1000 genomes]
rs11986255	0.85[AMR][1000 genomes]
rs11987452	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11988102	0.85[AMR][1000 genomes]
rs11988197	0.85[AMR][1000 genomes]
rs11988227	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11988823	0.85[AMR][1000 genomes]
rs11990369	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11991133	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11991458	0.85[AMR][1000 genomes]
rs11992397	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11992660	0.85[AFR][1000 genomes]
rs11992682	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11993667	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11994318	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11995473	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11996604	0.85[AMR][1000 genomes]
rs11997992	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17622134	1.00[EUR][1000 genomes]
rs17694846	0.95[EUR][1000 genomes]
rs2194902	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28799623	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34489103	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57363090	0.81[EUR][1000 genomes]
rs57986156	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58081556	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58384533	0.95[EUR][1000 genomes]
rs59177170	0.85[AMR][1000 genomes]
rs59213790	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59531993	1.00[EUR][1000 genomes]
rs59805921	0.95[EUR][1000 genomes]
rs60443202	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60782941	0.84[AFR][1000 genomes]
rs61733908	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7004940	0.81[EUR][1000 genomes]
rs7008140	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627229	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627242	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627249	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627250	0.80[AFR][1000 genomes]
rs73627252	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627261	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627273	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627274	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627276	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627278	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627280	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627282	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627288	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627294	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73629103	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73629110	0.85[AMR][1000 genomes]
rs73629177	0.85[AMR][1000 genomes]
rs73629179	0.85[AMR][1000 genomes]
rs73629190	0.85[AMR][1000 genomes]
rs73629192	0.85[AMR][1000 genomes]
rs73634659	0.87[EUR][1000 genomes]
rs73634666	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73634670	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73634673	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73634677	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73634682	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73634696	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635313	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635316	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73635325	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635331	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635345	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635352	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635362	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635364	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635365	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635366	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635368	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635370	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7820326	1.00[EUR][1000 genomes]
rs7838845	0.83[AFR][1000 genomes];0.90[EUR][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	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42699400-42745800	Weak transcription	Fetal Heart	heart
2	chr8:42699400-42745800	Weak transcription	Small Intestine	intestine
3	chr8:42699400-42750600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:42699600-42748600	Weak transcription	HMEC	breast
5	chr8:42708400-42749000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:42711400-42745800	Weak transcription	Stomach Mucosa	stomach
7	chr8:42711600-42748600	Weak transcription	Fetal Thymus	thymus
8	chr8:42712600-42746000	Weak transcription	NHDF-Ad	bronchial
9	chr8:42713200-42745800	Weak transcription	HUVEC	blood vessel
10	chr8:42714000-42744800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:42714000-42746200	Weak transcription	NHLF	lung
12	chr8:42714600-42748400	Weak transcription	Fetal Brain Male	brain
13	chr8:42717000-42748800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr8:42718600-42745800	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:42719200-42745800	Weak transcription	Pancreas	Pancrea
16	chr8:42719400-42746000	Weak transcription	NH-A	brain
17	chr8:42719800-42750600	Weak transcription	Esophagus	oesophagus
18	chr8:42720200-42748800	Weak transcription	Colonic Mucosa	Colon
19	chr8:42725200-42745800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:42725200-42745800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr8:42725400-42744800	Weak transcription	Brain Angular Gyrus	brain
22	chr8:42725400-42746000	Weak transcription	HSMM	muscle
23	chr8:42725400-42747000	Weak transcription	Spleen	Spleen
24	chr8:42725400-42748800	Weak transcription	Right Ventricle	heart
25	chr8:42726000-42748400	Weak transcription	Fetal Kidney	kidney
26	chr8:42729400-42744400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:42734000-42748800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr8:42736800-42747000	Weak transcription	Psoas Muscle	Psoas
29	chr8:42736800-42748400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:42736800-42748800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:42737200-42748600	Weak transcription	Thymus	Thymus
32	chr8:42738200-42744600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:42738200-42747000	Weak transcription	Left Ventricle	heart
34	chr8:42738200-42748600	Weak transcription	Lung	lung
35	chr8:42738200-42750400	Weak transcription	Gastric	stomach
36	chr8:42738400-42748600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:42740800-42744400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr8:42740800-42745800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr8:42740800-42746000	Weak transcription	A549	lung
40	chr8:42740800-42746200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:42740800-42746600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:42740800-42746800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr8:42740800-42748600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:42741000-42744200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:42741000-42745000	Weak transcription	Brain Hippocampus Middle	brain
46	chr8:42741000-42745800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:42741000-42746000	Weak transcription	HSMMtube	muscle
48	chr8:42741000-42746800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr8:42741000-42748400	Weak transcription	Primary T cells from cord blood	blood
50	chr8:42741200-42745800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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