Variant report

Variant	rs6839627
Chromosome Location	chr4:125379709-125379710
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10002176	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12506469	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1353003	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008220	0.97[GIH][hapmap];0.82[EUR][1000 genomes]
rs17008228	0.81[EUR][1000 genomes]
rs28438491	0.81[AFR][1000 genomes]
rs28824869	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7672880	0.81[EUR][1000 genomes]
rs7679435	0.82[EUR][1000 genomes]
rs7690688	0.87[AFR][1000 genomes];0.82[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	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
8	esv3339982	chr4:125357396-125380067	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:8 , 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	chr4:125379000-125380000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:125379400-125382000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr4:125379600-125379800	Enhancers	Fetal Lung	lung
7	chr4:125379600-125380400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr4:125379600-125381600	Enhancers	Stomach Mucosa	stomach

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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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