Variant report

Variant	rs6722899
Chromosome Location	chr2:30578049-30578050
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30452581..30455321-chr2:30574315..30578134,3	K562	blood:

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10195381	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11888816	0.97[ASN][1000 genomes]
rs11891295	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13004173	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34115418	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34540361	0.90[ASN][1000 genomes]
rs34689327	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34737435	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35857367	0.90[ASN][1000 genomes]
rs56778022	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60473134	0.95[EUR][1000 genomes];1.00[ASN][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30570000-30582800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:30570200-30581800	Weak transcription	Ovary	ovary
3	chr2:30570200-30584800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:30571000-30581800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:30571600-30582000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:30572800-30579200	Genic enhancers	Fetal Heart	heart
7	chr2:30574800-30578400	Weak transcription	Placenta	Placenta
8	chr2:30574800-30578800	Weak transcription	Fetal Lung	lung
9	chr2:30574800-30582400	Weak transcription	Spleen	Spleen
10	chr2:30574800-30583600	Weak transcription	Aorta	Aorta
11	chr2:30575000-30579000	Weak transcription	Adipose Nuclei	Adipose
12	chr2:30575000-30579800	Enhancers	Left Ventricle	heart
13	chr2:30576200-30582600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr2:30577200-30578400	Enhancers	Right Ventricle	heart
15	chr2:30577200-30578600	Enhancers	NHLF	lung
16	chr2:30577200-30579400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:30577400-30578800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:30577400-30579400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:30577600-30579000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:30577600-30581200	Weak transcription	Fetal Thymus	thymus
21	chr2:30577800-30581400	Weak transcription	Right Atrium	heart
22	chr2:30578000-30581800	Weak transcription	Pancreas	Pancrea
23	chr2:30578000-30581800	Weak transcription	NHDF-Ad	bronchial

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