Variant report

Variant	rs2242480
Chromosome Location	chr7:99361466-99361467
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99355786..99358236-chr7:99360607..99362683,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10211	0.87[GIH][hapmap]
rs1879859	0.87[GIH][hapmap]
rs2687079	0.87[GIH][hapmap]
rs2687081	0.84[GIH][hapmap]
rs2687087	0.87[GIH][hapmap]
rs2740565	0.87[GIH][hapmap]
rs4646437	0.82[EUR][1000 genomes]
rs4646440	0.84[ASN][1000 genomes]
rs59836234	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482532	chr7:99205906-99363886	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv3331003	chr7:99337054-99386069	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	esv3450108	chr7:99339737-99383419	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv1827709	chr7:99353500-99440051	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv482109	chr7:99354604-99381808	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv970558	chr7:99358519-99389907	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99350800-99369800	Weak transcription	Pancreas	Pancrea
2	chr7:99351000-99364000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:99355400-99365800	Strong transcription	Liver	Liver
4	chr7:99359600-99361600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:99359600-99361600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr7:99359600-99362000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:99360000-99361600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr7:99360000-99361600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr7:99360400-99361600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:99360400-99361600	Enhancers	Stomach Mucosa	stomach
11	chr7:99361000-99361600	Enhancers	Psoas Muscle	Psoas
12	chr7:99361000-99361600	Enhancers	K562	blood
13	chr7:99361200-99361800	Enhancers	Fetal Lung	lung
14	chr7:99361200-99364000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:99361200-99364200	Weak transcription	NHEK	skin
16	chr7:99361400-99361600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:99361400-99361600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:99361400-99362000	Enhancers	Osteobl	bone
19	chr7:99361400-99363600	Weak transcription	Hela-S3	cervix
20	chr7:99361400-99364400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links