Variant report

Variant	rs2709986
Chromosome Location	chr7:137831948-137831949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs2440798	0.88[AMR][1000 genomes]
rs2440800	0.85[AMR][1000 genomes]
rs2450838	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2465072	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2465085	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2465914	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2465915	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2465916	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2633359	0.85[AMR][1000 genomes]
rs2709984	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2718122	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831151	chr7:137711447-137865471	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
3	nsv608471	chr7:137808839-137847598	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3342923	chr7:137815746-137835515	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137824400-137832800	Weak transcription	Right Atrium	heart
2	chr7:137830000-137835400	Weak transcription	HepG2	liver
3	chr7:137830800-137832000	Enhancers	Dnd41	blood
4	chr7:137831600-137832200	Active TSS	Primary T cells from cord blood	blood
5	chr7:137831600-137832200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr7:137831600-137832600	Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr7:137831600-137832600	Enhancers	Fetal Thymus	thymus
8	chr7:137831800-137832000	Active TSS	K562	blood
9	chr7:137831800-137832200	Active TSS	Primary B cells from peripheral blood	blood
10	chr7:137831800-137832200	Active TSS	Thymus	Thymus
11	chr7:137831800-137832400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:137831800-137832400	Active TSS	Primary monocytes fromperipheralblood	blood
13	chr7:137831800-137832400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr7:137831800-137832600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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