Variant report

Variant	rs2272427
Chromosome Location	chr4:74447492-74447493
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10003721	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.90[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1247669	1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs16849717	1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs17838981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1919471	0.96[GIH][hapmap]
rs3756068	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.90[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55783483	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72863058	0.97[ASN][1000 genomes]
rs7658159	1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv1792624	chr4:74437054-74453857	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74438000-74464800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:74439000-74448400	Weak transcription	Fetal Intestine Large	intestine
3	chr4:74439800-74448600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:74440200-74449000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:74440200-74449600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:74440200-74451200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:74440200-74455200	Weak transcription	Fetal Intestine Small	intestine
8	chr4:74440200-74457400	Weak transcription	Pancreas	Pancrea
9	chr4:74440200-74472600	Weak transcription	Gastric	stomach
10	chr4:74441200-74464800	Weak transcription	Placenta	Placenta
11	chr4:74442200-74450200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:74442600-74449400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:74442800-74448800	Weak transcription	HMEC	breast
14	chr4:74443600-74455400	Weak transcription	Stomach Mucosa	stomach
15	chr4:74446200-74456000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:74446400-74451000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:74447000-74447600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr4:74447000-74447600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr4:74447000-74447600	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr4:74447000-74447600	Strong transcription	Thymus	Thymus
21	chr4:74447000-74447800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr4:74447000-74449400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:74447000-74456000	Strong transcription	Fetal Thymus	thymus
24	chr4:74447400-74447600	Genic enhancers	Pancreatic Islets	Pancreatic Islet
25	chr4:74447400-74449000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links