Variant report

Variant	rs2740580
Chromosome Location	chr7:99360161-99360162
allele	C/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:6)

rs_ID	r²[population]
rs1818796	0.83[AFR][1000 genomes]
rs1851424	1.00[AFR][1000 genomes]
rs2253568	0.88[AFR][1000 genomes]
rs2263421	1.00[AFR][1000 genomes]
rs2687083	1.00[AFR][1000 genomes]
rs2741871	0.84[AFR][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:18 , 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	chr7:99358400-99360400	Weak transcription	Fetal Intestine Small	intestine
5	chr7:99359600-99360200	Active TSS	Sigmoid Colon	Sigmoid Colon
6	chr7:99359600-99361600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:99359600-99361600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr7:99359600-99362000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:99359800-99360400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:99359800-99360400	Enhancers	K562	blood
11	chr7:99359800-99360600	Enhancers	Fetal Lung	lung
12	chr7:99359800-99361400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:99359800-99361400	Enhancers	HMEC	breast
14	chr7:99360000-99360400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:99360000-99360600	Enhancers	NHEK	skin
16	chr7:99360000-99361000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:99360000-99361600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr7:99360000-99361600	Enhancers	Skeletal Muscle Male	skeletal muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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