Variant report

Variant	rs57567789
Chromosome Location	chr7:101229605-101229606
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1008063	1.00[EUR][1000 genomes]
rs11984408	1.00[EUR][1000 genomes]
rs17135490	1.00[EUR][1000 genomes]
rs17135609	1.00[EUR][1000 genomes]
rs1859626	1.00[EUR][1000 genomes]
rs1859627	1.00[EUR][1000 genomes]
rs2949321	1.00[EUR][1000 genomes]
rs56832191	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58769488	1.00[EUR][1000 genomes]
rs59574680	1.00[EUR][1000 genomes]
rs60685206	1.00[EUR][1000 genomes]
rs61328199	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv888821	chr7:101091470-101311540	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv831078	chr7:101094945-101257486	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv888822	chr7:101105017-101330734	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv888824	chr7:101109073-101330734	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv888825	chr7:101168283-101330734	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1018544	chr7:101225639-101424889	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv539045	chr7:101225639-101424889	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101223800-101230000	Enhancers	Placenta	Placenta
2	chr7:101227400-101235200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:101227600-101230200	Enhancers	HepG2	liver
4	chr7:101227600-101230400	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr7:101227600-101233400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:101227800-101231600	Enhancers	Fetal Intestine Small	intestine
7	chr7:101228000-101230200	Enhancers	Duodenum Mucosa	Duodenum
8	chr7:101228000-101230800	Enhancers	Fetal Intestine Large	intestine
9	chr7:101228600-101229800	Enhancers	Colonic Mucosa	Colon
10	chr7:101229200-101229800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr7:101229400-101229800	Enhancers	Stomach Mucosa	stomach
12	chr7:101229400-101230200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:101229600-101229800	Enhancers	Gastric	stomach
14	chr7:101229600-101230600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:101229600-101230600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:101229600-101230600	Enhancers	Fetal Kidney	kidney
17	chr7:101229600-101230600	Enhancers	K562	blood

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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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