Variant report

Variant	rs6883494
Chromosome Location	chr5:58280974-58280975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1400224	0.91[ASN][1000 genomes]
rs3805555	0.83[ASN][1000 genomes]
rs57718768	0.97[ASN][1000 genomes]
rs57835046	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58202935	0.83[ASN][1000 genomes]
rs60286676	1.00[ASN][1000 genomes]
rs60741550	0.89[ASN][1000 genomes]
rs60836618	0.89[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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830312	chr5:58191579-58382226	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58266000-58287600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr5:58266800-58281200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:58267600-58282600	Strong transcription	Primary T cells from cord blood	blood
4	chr5:58268000-58281800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:58268000-58288400	Weak transcription	Stomach Mucosa	stomach
6	chr5:58268200-58287200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:58268400-58287400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:58268400-58294400	Weak transcription	NH-A	brain
9	chr5:58268800-58286000	Weak transcription	HepG2	liver
10	chr5:58268800-58286600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:58268800-58286800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:58268800-58287200	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr5:58268800-58287800	Weak transcription	Placenta	Placenta
14	chr5:58268800-58288800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:58268800-58294600	Weak transcription	Brain Hippocampus Middle	brain
16	chr5:58270200-58297400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr5:58270800-58292600	Weak transcription	Fetal Brain Male	brain
18	chr5:58270800-58295800	Weak transcription	Small Intestine	intestine
19	chr5:58270800-58297000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:58271000-58282000	Genic enhancers	A549	lung
21	chr5:58271000-58283000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:58271000-58283600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:58271000-58285800	Weak transcription	Aorta	Aorta
24	chr5:58271000-58285800	Weak transcription	Pancreas	Pancrea
25	chr5:58271000-58287600	Weak transcription	Esophagus	oesophagus
26	chr5:58271000-58293600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr5:58271000-58294600	Weak transcription	Brain Angular Gyrus	brain
28	chr5:58271600-58287200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:58271600-58294400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr5:58271800-58281200	Weak transcription	Fetal Intestine Small	intestine
31	chr5:58272000-58281000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:58272200-58286000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr5:58272400-58283800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr5:58272800-58281400	Weak transcription	Osteobl	bone
35	chr5:58272800-58289000	Weak transcription	HUVEC	blood vessel
36	chr5:58273000-58294400	Weak transcription	Brain Anterior Caudate	brain
37	chr5:58273400-58289200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:58273800-58294400	Weak transcription	Brain Substantia Nigra	brain
39	chr5:58274200-58283600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr5:58274400-58285800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr5:58275200-58282200	Weak transcription	Right Atrium	heart
42	chr5:58276400-58288800	Strong transcription	Hela-S3	cervix
43	chr5:58276800-58281000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr5:58276800-58286800	Strong transcription	Fetal Thymus	thymus
45	chr5:58277200-58281200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr5:58277200-58283000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr5:58277800-58295600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr5:58278000-58281000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:58278400-58297400	Weak transcription	HSMMtube	muscle
50	chr5:58278400-58299000	Weak transcription	Gastric	stomach

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