Variant report

Variant	rs12510452
Chromosome Location	chr4:93890730-93890731
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10021312	0.84[EUR][1000 genomes]
rs11097351	0.84[ASN][1000 genomes]
rs12186311	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12499076	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12640873	0.88[EUR][1000 genomes]
rs1369169	0.88[EUR][1000 genomes]
rs1378913	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1580154	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17020045	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1840717	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2046015	0.81[EUR][1000 genomes]
rs6821597	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6841036	0.81[AMR][1000 genomes]
rs7660982	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7667967	0.81[EUR][1000 genomes]
rs7699688	0.81[EUR][1000 genomes]
rs9999192	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011652	chr4:93618181-93891388	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916371	chr4:93673026-93994807	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv879611	chr4:93707288-93987251	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv879612	chr4:93761619-93969165	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1014842	chr4:93790604-93957114	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv997640	chr4:93790604-93982695	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv879613	chr4:93800605-93902882	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1007177	chr4:93834536-94155349	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv537186	chr4:93834536-94155349	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1819814	chr4:93849612-93905087	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv1822438	chr4:93869564-93902882	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv1816198	chr4:93869564-93905087	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv1817299	chr4:93869564-93905087	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv1818802	chr4:93869564-93905087	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv1823969	chr4:93869564-93905087	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv879614	chr4:93869564-93989892	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv931937	chr4:93869856-94155348	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv1816424	chr4:93890098-93905087	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv1820603	chr4:93890098-93911163	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93865800-93895400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:93889600-93891000	Enhancers	NHEK	skin
3	chr4:93889800-93891000	Enhancers	HMEC	breast
4	chr4:93889800-93891200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:93889800-93892400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:93889800-93892400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:93889800-93892400	Enhancers	HSMM	muscle
8	chr4:93889800-93892400	Enhancers	NH-A	brain
9	chr4:93890000-93891000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:93890000-93891800	Enhancers	NHDF-Ad	bronchial
11	chr4:93890400-93891400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:93890400-93892000	Enhancers	HepG2	liver
13	chr4:93890600-93891000	Flanking Active TSS	Liver	Liver
14	chr4:93890600-93891000	Flanking Active TSS	A549	lung
15	chr4:93890600-93891400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr4:93890600-93891600	Weak transcription	Hela-S3	cervix
17	chr4:93890600-93891800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:93890600-93892000	Enhancers	HUVEC	blood vessel
19	chr4:93890600-93892400	Enhancers	Muscle Satellite Cultured Cells	--

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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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