Variant report

Variant	rs2953805
Chromosome Location	chr8:8914757-8914758
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1045529	0.88[AMR][1000 genomes]
rs11784393	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13272451	0.84[AMR][1000 genomes]
rs1562211	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1900102	0.82[ASN][1000 genomes]
rs2044387	0.84[AMR][1000 genomes]
rs2921374	0.80[ASN][1000 genomes]
rs2921376	0.82[ASN][1000 genomes]
rs2921378	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2921383	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2953806	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2956244	0.90[AMR][1000 genomes]
rs2979249	0.95[ASN][1000 genomes]
rs2979253	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3021416	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4537305	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4841084	0.90[AMR][1000 genomes]
rs7005133	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7016139	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7853	0.89[AMR][1000 genomes];0.81[EUR][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	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2953805	RP11-62H7.2	cis	Thyroid	GTEx
rs2953805	THEX1	Cis_1M	lymphoblastoid	RTeQTL
rs2953805	C8orf5	Cis_chr	lymphoblastoid	RTeQTL
rs2953805	SGK223	cis	Thyroid	GTEx
rs2953805	BLK	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8861800-8915600	Weak transcription	Pancreas	Pancrea
2	chr8:8891000-8914800	Weak transcription	Fetal Stomach	stomach
3	chr8:8891400-8915200	Weak transcription	K562	blood
4	chr8:8899000-8919200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:8907400-8915000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:8907600-8914800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:8907600-8915000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:8908600-8914800	Weak transcription	NHDF-Ad	bronchial
9	chr8:8909000-8914800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:8911000-8914800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:8911200-8914800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:8911200-8914800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:8911200-8915200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:8911800-8914800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:8913000-8914800	Weak transcription	Fetal Lung	lung
16	chr8:8913000-8915600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:8913400-8915400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr8:8913600-8916400	Enhancers	Fetal Intestine Large	intestine
19	chr8:8913800-8914800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:8913800-8915000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:8914200-8915000	Enhancers	Duodenum Mucosa	Duodenum
22	chr8:8914400-8915400	Weak transcription	HepG2	liver
23	chr8:8914400-8916000	Enhancers	Ovary	ovary
24	chr8:8914600-8914800	Enhancers	Fetal Heart	heart
25	chr8:8914600-8915200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:8914600-8915200	Enhancers	HSMM	muscle
27	chr8:8914600-8915200	Enhancers	HSMMtube	muscle
28	chr8:8914600-8915400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr8:8914600-8915600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:8914600-8915600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:8914600-8915600	Enhancers	Left Ventricle	heart
32	chr8:8914600-8915800	Enhancers	Aorta	Aorta
33	chr8:8914600-8915800	Enhancers	Fetal Muscle Trunk	muscle
34	chr8:8914600-8916000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:8914600-8916000	Enhancers	Fetal Muscle Leg	muscle
36	chr8:8914600-8916000	Enhancers	Placenta	Placenta
37	chr8:8914600-8916200	Enhancers	Fetal Intestine Small	intestine
38	chr8:8914600-8916200	Enhancers	NHLF	lung
39	chr8:8914600-8917000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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