Variant report

Variant	rs72884735
Chromosome Location	chr2:47069035-47069036
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:47068922-47069122	K562	blood:	n/a	n/a
2	POLR2A	chr2:47069027-47069094	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47068428..47070813-chr2:47109229..47111715,2	K562	blood:

Variant related genes	Relation type
LINC01119	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11125094	0.80[ASN][1000 genomes]
rs12466355	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12468594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12469521	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35828414	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv817840	chr2:47044218-47070827	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47060200-47070400	Weak transcription	NHDF-Ad	bronchial
2	chr2:47063400-47072200	Weak transcription	Placenta	Placenta
3	chr2:47063800-47072000	Weak transcription	Lung	lung
4	chr2:47063800-47072200	Weak transcription	Left Ventricle	heart
5	chr2:47063800-47072200	Weak transcription	Pancreas	Pancrea
6	chr2:47063800-47072800	Weak transcription	Brain Substantia Nigra	brain
7	chr2:47063800-47073000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:47064000-47069400	Weak transcription	Right Ventricle	heart
9	chr2:47064000-47070200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:47064000-47072800	Weak transcription	Right Atrium	heart
11	chr2:47064000-47072800	Weak transcription	Spleen	Spleen
12	chr2:47064000-47073200	Weak transcription	NHLF	lung
13	chr2:47064200-47070200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:47067200-47069400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:47067400-47073400	Weak transcription	Osteobl	bone
16	chr2:47067800-47070400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:47068600-47069400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:47068800-47069200	Enhancers	Duodenum Mucosa	Duodenum
19	chr2:47068800-47069200	Enhancers	HUVEC	blood vessel
20	chr2:47068800-47069200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr2:47068800-47069600	Enhancers	Primary B cells from peripheral blood	blood
22	chr2:47068800-47069600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:47069000-47069400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:47069000-47069400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:47069000-47069400	Enhancers	Adipose Nuclei	Adipose
26	chr2:47069000-47069400	Enhancers	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links