Variant report

Variant	rs1980460
Chromosome Location	chr6:119543808-119543809
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10872174	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1555684	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs195047	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs195049	0.85[ASN][1000 genomes]
rs195053	0.82[ASN][1000 genomes]
rs195054	0.82[ASN][1000 genomes]
rs195055	0.82[ASN][1000 genomes]
rs195057	0.81[ASN][1000 genomes]
rs195093	0.85[ASN][1000 genomes]
rs2104360	0.90[ASN][1000 genomes]
rs2142891	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2299877	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357162	0.85[ASN][1000 genomes]
rs3822997	0.83[ASN][1000 genomes]
rs3822998	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4945632	0.97[ASN][1000 genomes]
rs6569058	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6569059	0.81[AMR][1000 genomes]
rs6569060	0.85[ASN][1000 genomes]
rs6569061	0.85[ASN][1000 genomes]
rs6569062	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66524742	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6903155	0.81[ASN][1000 genomes]
rs6932066	0.85[ASN][1000 genomes]
rs6933961	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6939774	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7357047	0.85[ASN][1000 genomes]
rs7761203	0.97[ASN][1000 genomes]
rs7774746	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9320682	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9320683	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9489624	0.86[ASN][1000 genomes]
rs9489637	0.85[ASN][1000 genomes]
rs9489650	0.85[ASN][1000 genomes]
rs980818	0.85[ASN][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	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv886570	chr6:119450888-119600556	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119494600-119547400	Weak transcription	Esophagus	oesophagus
2	chr6:119519200-119558400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr6:119524800-119558400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:119525400-119548600	Weak transcription	Aorta	Aorta
5	chr6:119525400-119556000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:119525400-119558400	Weak transcription	Small Intestine	intestine
7	chr6:119525800-119554200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr6:119525800-119555800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:119526000-119555200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:119526000-119558400	Weak transcription	Placenta	Placenta
11	chr6:119526200-119558400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:119528600-119551200	Weak transcription	Primary B cells from cord blood	blood
13	chr6:119531200-119552000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr6:119531600-119558400	Weak transcription	NHLF	lung
15	chr6:119537200-119545400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr6:119537400-119547400	Weak transcription	Pancreas	Pancrea
17	chr6:119537400-119550800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:119537400-119554000	Weak transcription	Fetal Intestine Large	intestine
19	chr6:119537400-119554000	Weak transcription	Fetal Intestine Small	intestine
20	chr6:119537400-119556800	Weak transcription	Fetal Stomach	stomach
21	chr6:119537600-119545200	Weak transcription	Adipose Nuclei	Adipose
22	chr6:119537600-119546400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr6:119537600-119546400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:119537600-119558400	Weak transcription	Right Atrium	heart
25	chr6:119537800-119548400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:119537800-119555600	Weak transcription	Left Ventricle	heart
27	chr6:119537800-119558400	Weak transcription	Ovary	ovary
28	chr6:119538400-119548400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:119540000-119554800	Weak transcription	Gastric	stomach
30	chr6:119540400-119547200	Weak transcription	K562	blood
31	chr6:119541000-119558400	Weak transcription	NHEK	skin
32	chr6:119542000-119544600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr6:119542000-119548200	Weak transcription	Liver	Liver
34	chr6:119542600-119547000	Weak transcription	HepG2	liver
35	chr6:119543800-119544200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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