Variant report

Variant	rs9637477
Chromosome Location	chr3:52891426-52891427
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11130329	0.84[EUR][1000 genomes]
rs1139106	0.88[EUR][1000 genomes]
rs11626	0.93[EUR][1000 genomes]
rs11708390	0.84[EUR][1000 genomes]
rs11718060	0.93[EUR][1000 genomes]
rs13080929	0.95[EUR][1000 genomes]
rs2001732	0.82[EUR][1000 genomes]
rs4687556	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4687676	0.97[AMR][1000 genomes];1.00[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	nsv834698	chr3:52749983-52928219	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	esv2762328	chr3:52774884-53002150	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3446915	chr3:52786850-53049217	Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers 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	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9637477	TMEM110	cis	multi-tissue	Pritchard
rs9637477	TMEM110	Cis_1M	lymphoblastoid	RTeQTL
rs9637477	TMEM110	cis	Nerve Tibial	GTEx

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52870000-52901000	Weak transcription	Fetal Brain Male	brain
2	chr3:52873400-52891600	Strong transcription	Primary T cells from cord blood	blood
3	chr3:52873400-52892000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:52879800-52894800	Weak transcription	HSMM	muscle
5	chr3:52883400-52894200	Weak transcription	HSMMtube	muscle
6	chr3:52883400-52894600	Weak transcription	Hela-S3	cervix
7	chr3:52883800-52894400	Weak transcription	Psoas Muscle	Psoas
8	chr3:52884000-52898200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:52884000-52907400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr3:52884200-52893000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:52884400-52893000	Weak transcription	Small Intestine	intestine
12	chr3:52885400-52899600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:52886200-52907800	Weak transcription	NHLF	lung
14	chr3:52886400-52894200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:52886600-52891600	Weak transcription	Fetal Lung	lung
16	chr3:52886600-52894400	Weak transcription	Esophagus	oesophagus
17	chr3:52886600-52894400	Weak transcription	Gastric	stomach
18	chr3:52886600-52894600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:52886600-52894600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:52886600-52895000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr3:52886600-52897600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:52886600-52897600	Weak transcription	Fetal Intestine Small	intestine
23	chr3:52886600-52897800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr3:52886600-52898200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr3:52886600-52899800	Weak transcription	Dnd41	blood
26	chr3:52886600-52907600	Weak transcription	Brain Hippocampus Middle	brain
27	chr3:52886600-52907800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr3:52886600-52908600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr3:52886600-52911000	Weak transcription	Primary B cells from cord blood	blood
30	chr3:52886600-52920000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr3:52886600-52930200	Weak transcription	Colonic Mucosa	Colon
32	chr3:52886800-52891800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:52886800-52893600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:52886800-52894400	Weak transcription	Placenta	Placenta
35	chr3:52886800-52894600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:52886800-52894800	Weak transcription	Brain Angular Gyrus	brain
37	chr3:52886800-52900400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:52886800-52907600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:52887000-52898000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr3:52887000-52898600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:52887000-52919400	Weak transcription	Fetal Brain Female	brain
42	chr3:52887000-52926400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr3:52887400-52891800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:52887400-52894400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr3:52887600-52894200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:52887600-52894200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:52887600-52894600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr3:52887600-52898000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr3:52887800-52923200	Weak transcription	Brain Germinal Matrix	brain
50	chr3:52888000-52894400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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