Variant report

Variant	rs10957054
Chromosome Location	chr8:59336556-59336557
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1030431	0.81[AMR][1000 genomes]
rs11783515	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11996829	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13253288	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13263105	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13277801	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1529367	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1529368	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1580180	0.85[EUR][1000 genomes]
rs1993453	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2016886	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081687	0.85[EUR][1000 genomes]
rs2326077	0.86[EUR][1000 genomes]
rs4738679	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4738680	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6471717	0.87[EUR][1000 genomes]
rs6982486	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985620	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7005978	0.86[EUR][1000 genomes]
rs7007181	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826120	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs983812	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757275	chr8:59305290-59342331	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
2	esv2759619	chr8:59305290-59342331	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	nsv971656	chr8:59331826-59339206	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59324400-59337200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:59324400-59341800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:59324600-59337400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:59324600-59339200	Weak transcription	Esophagus	oesophagus
5	chr8:59324800-59337400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:59324800-59337400	Weak transcription	Fetal Stomach	stomach
7	chr8:59324800-59352000	Weak transcription	HSMMtube	muscle
8	chr8:59324800-59362000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:59325000-59348800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:59325000-59352600	Weak transcription	Fetal Kidney	kidney
11	chr8:59325000-59357600	Weak transcription	NHLF	lung
12	chr8:59325000-59360000	Weak transcription	Right Ventricle	heart
13	chr8:59325000-59361200	Weak transcription	Psoas Muscle	Psoas
14	chr8:59325200-59338200	Weak transcription	Ovary	ovary
15	chr8:59325200-59338200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:59325200-59339200	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:59325200-59351200	Weak transcription	K562	blood
18	chr8:59325200-59370800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr8:59325400-59337200	Weak transcription	Aorta	Aorta
20	chr8:59325400-59337400	Weak transcription	Brain Anterior Caudate	brain
21	chr8:59325400-59337600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr8:59325400-59349000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:59325400-59351400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:59325600-59337400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:59325600-59341400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:59325600-59348600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:59325600-59348800	Weak transcription	Brain Angular Gyrus	brain
28	chr8:59325800-59342200	Weak transcription	Fetal Heart	heart
29	chr8:59325800-59343400	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:59325800-59345200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:59325800-59347600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr8:59325800-59353200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr8:59325800-59363200	Weak transcription	Hela-S3	cervix
34	chr8:59326400-59339200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:59326600-59348800	Weak transcription	Small Intestine	intestine
36	chr8:59326600-59353400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:59326600-59361400	Weak transcription	Fetal Brain Male	brain
38	chr8:59326600-59366200	Weak transcription	Gastric	stomach
39	chr8:59327000-59337400	Weak transcription	Fetal Brain Female	brain
40	chr8:59327000-59352600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr8:59329600-59339200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:59330600-59337400	Weak transcription	Adipose Nuclei	Adipose
43	chr8:59330600-59337800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr8:59332200-59349000	Weak transcription	HSMM	muscle
45	chr8:59332400-59347400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr8:59332600-59337400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:59332600-59337400	Weak transcription	Primary B cells from cord blood	blood
48	chr8:59332600-59337400	Weak transcription	Dnd41	blood
49	chr8:59332600-59343800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr8:59332600-59347400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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