Variant report

Variant	rs17765682
Chromosome Location	chr6:12339240-12339241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12524919	0.81[AMR][1000 genomes]
rs12530046	0.81[AMR][1000 genomes]
rs17765653	0.82[CHB][hapmap]
rs35198442	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4076735	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4714429	0.83[CHB][hapmap];0.85[MEX][hapmap]
rs6932390	0.85[ASN][1000 genomes]
rs9357346	0.91[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs9369262	0.91[CHB][hapmap];0.80[CHD][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508394	chr6:12285464-12386745	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17765682	C3orf18	trans	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12332000-12340200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:12332200-12344000	Weak transcription	Aorta	Aorta
3	chr6:12332600-12340400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:12335000-12342000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr6:12335000-12342000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr6:12336000-12343400	Weak transcription	Fetal Kidney	kidney
7	chr6:12336400-12340000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:12336800-12339600	Weak transcription	Small Intestine	intestine
9	chr6:12336800-12339800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:12336800-12340000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:12336800-12340200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:12336800-12341600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:12336800-12341800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr6:12336800-12342000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr6:12336800-12342000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:12337000-12339400	Weak transcription	HepG2	liver
17	chr6:12337000-12339600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr6:12337000-12339800	Weak transcription	Pancreas	Pancrea
19	chr6:12337000-12340000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:12337000-12340200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:12337000-12341400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr6:12337000-12341600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:12337000-12341600	Weak transcription	Stomach Mucosa	stomach
24	chr6:12337000-12341800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:12337200-12341400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr6:12337200-12342000	Weak transcription	Hela-S3	cervix
27	chr6:12337200-12348600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:12338200-12343000	Enhancers	Liver	Liver
29	chr6:12338200-12345800	Enhancers	Fetal Intestine Small	intestine
30	chr6:12338600-12342600	Enhancers	A549	lung
31	chr6:12338800-12340600	Enhancers	Duodenum Mucosa	Duodenum
32	chr6:12338800-12345800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr6:12339000-12346200	Enhancers	Fetal Intestine Large	intestine

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