Variant report

Variant	rs3783561
Chromosome Location	chr2:113547899-113547900
allele	C/T
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:9)

rs_ID	r²[population]
rs1143624	1.00[AMR][1000 genomes]
rs1143638	1.00[AMR][1000 genomes]
rs28947191	1.00[AMR][1000 genomes]
rs3917350	1.00[AMR][1000 genomes]
rs3917353	1.00[AMR][1000 genomes]
rs56978795	1.00[AMR][1000 genomes]
rs57460702	1.00[AMR][1000 genomes]
rs59890835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60771282	1.00[AMR][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	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113534000-113551800	Weak transcription	Fetal Heart	heart
2	chr2:113542400-113559200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:113542600-113548600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr2:113543000-113562200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:113543200-113548600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:113543600-113548800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:113543600-113548800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:113543800-113548600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:113545400-113550400	Weak transcription	HMEC	breast
10	chr2:113545600-113548000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:113545600-113548000	Weak transcription	NHEK	skin
12	chr2:113545600-113548600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:113545600-113550600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:113545600-113551000	Weak transcription	Adipose Nuclei	Adipose
15	chr2:113545800-113552400	Weak transcription	Primary B cells from cord blood	blood
16	chr2:113546400-113550600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:113546600-113550600	Weak transcription	HUVEC	blood vessel
18	chr2:113546600-113550800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:113546600-113551600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:113547000-113549800	Weak transcription	K562	blood
21	chr2:113547000-113550400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:113547200-113548800	Enhancers	HepG2	liver
23	chr2:113547600-113548200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:113547800-113548000	Active TSS	A549	lung
25	chr2:113547800-113548800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:113547800-113548800	Enhancers	Hela-S3	cervix
27	chr2:113547800-113549000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr2:113547800-113551800	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links