Variant report

Variant	rs2131321
Chromosome Location	chr4:125380289-125380290
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10005933	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1492741	1.00[ASN][1000 genomes]
rs1907812	0.90[CHB][hapmap]
rs2390689	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2390692	0.81[ASN][1000 genomes]
rs4505832	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55809588	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56358767	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62323549	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs62323553	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62323554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62324484	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62324485	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62324486	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868977	chr4:124841128-125550637	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv998024	chr4:125019384-125380876	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537241	chr4:125019384-125380876	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1015049	chr4:125037090-125393067	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv879880	chr4:125174817-125494547	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2760890	chr4:125273456-125466931	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv879881	chr4:125280852-125448288	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr4:125378200-125380600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:125378400-125380400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:125378800-125382000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:125379400-125382000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:125379600-125380400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr4:125379600-125381600	Enhancers	Stomach Mucosa	stomach
7	chr4:125379800-125380400	Weak transcription	Fetal Lung	lung
8	chr4:125380000-125380600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:125380000-125380800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:125380000-125380800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:125380200-125380400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr4:125380200-125380800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:125380200-125381400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:125380200-125382000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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