Variant report

Variant	rs10518986
Chromosome Location	chr2:63725971-63725972
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:63710885..63713107-chr2:63724631..63726371,2	K562	blood:
2	chr2:63724967..63727086-chr2:63728677..63731026,2	K562	blood:

Variant related genes	Relation type
ENSG00000143951	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs72806068	1.00[AFR][1000 genomes]
rs72806087	1.00[AFR][1000 genomes]
rs72821618	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72821633	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63666600-63726800	Weak transcription	Gastric	stomach
2	chr2:63688600-63727800	Weak transcription	Primary B cells from cord blood	blood
3	chr2:63690600-63733000	Weak transcription	Dnd41	blood
4	chr2:63691400-63728000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:63698600-63726800	Weak transcription	Left Ventricle	heart
6	chr2:63698600-63733600	Weak transcription	Primary T cells from cord blood	blood
7	chr2:63712200-63727600	Weak transcription	Fetal Heart	heart
8	chr2:63715600-63727000	Weak transcription	Pancreas	Pancrea
9	chr2:63716800-63733400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:63718000-63729600	Weak transcription	Aorta	Aorta
11	chr2:63721000-63726800	Weak transcription	Esophagus	oesophagus
12	chr2:63722200-63726000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:63722200-63726200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:63723800-63726000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:63724400-63726000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:63724600-63735200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:63725000-63726200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:63725200-63726000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:63725200-63727000	Weak transcription	NHEK	skin
20	chr2:63725200-63727200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:63725800-63726000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:63725800-63727200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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