Variant report

Variant	rs74074335
Chromosome Location	chr1:47596884-47596885
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:14)

rs_ID	r²[population]
rs11579614	0.81[ASN][1000 genomes]
rs11588382	0.89[AMR][1000 genomes]
rs11589237	0.86[AMR][1000 genomes]
rs12564103	0.89[AMR][1000 genomes]
rs1832992	0.81[ASN][1000 genomes]
rs2224621	0.81[ASN][1000 genomes]
rs2236332	0.86[AMR][1000 genomes]
rs2897184	0.81[ASN][1000 genomes]
rs4531326	0.86[AMR][1000 genomes]
rs4926600	0.83[ASN][1000 genomes]
rs4926919	0.85[ASN][1000 genomes]
rs6668901	0.84[AMR][1000 genomes]
rs74074332	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs741957	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763300	chr1:47358532-47628774	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv916813	chr1:47435635-47666179	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv870705	chr1:47533705-47620126	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871010	chr1:47533705-47637999	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv870899	chr1:47548974-47637999	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv945929	chr1:47578751-47617495	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47593200-47597000	Enhancers	Liver	Liver
2	chr1:47595200-47597400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr1:47595400-47597400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:47595800-47597400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:47595800-47597400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:47596200-47597200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:47596200-47597400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr1:47596400-47597200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:47596400-47641000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:47596800-47597400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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

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