Variant report

Variant	rs74136533
Chromosome Location	chr1:196369282-196369283
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11802442	1.00[AMR][1000 genomes]
rs11803170	1.00[AMR][1000 genomes]
rs11806027	1.00[AMR][1000 genomes]
rs11806585	1.00[AMR][1000 genomes]
rs60185937	1.00[AMR][1000 genomes]
rs74134367	1.00[AMR][1000 genomes]
rs74136503	1.00[AMR][1000 genomes]
rs74136506	1.00[AMR][1000 genomes]
rs74136508	1.00[AMR][1000 genomes]
rs74136511	1.00[AMR][1000 genomes]
rs74136514	1.00[AMR][1000 genomes]
rs74136526	0.86[AFR][1000 genomes]
rs74136528	1.00[AMR][1000 genomes]
rs74136530	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469680	chr1:196259846-196419016	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv482746	chr1:196259846-196419016	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv872953	chr1:196286639-196411281	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1826904	chr1:196291977-196371432	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv1009233	chr1:196301712-196568874	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
7	nsv872954	chr1:196304863-196387809	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv872955	chr1:196339655-196374780	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv548742	chr1:196339655-196391866	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv872956	chr1:196339655-196411281	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv872957	chr1:196347066-196411281	Weak transcription Strong transcription Enhancers 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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196343400-196377200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr1:196356400-196375600	Weak transcription	Fetal Kidney	kidney
3	chr1:196358000-196393800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:196363200-196370200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:196363600-196369400	Weak transcription	HSMM	muscle
6	chr1:196363600-196370000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:196363600-196370000	Weak transcription	HSMMtube	muscle
8	chr1:196363600-196370000	Weak transcription	NHDF-Ad	bronchial
9	chr1:196363600-196370400	Weak transcription	Hela-S3	cervix
10	chr1:196368600-196369800	Enhancers	HepG2	liver
11	chr1:196368800-196369400	Enhancers	Ovary	ovary
12	chr1:196368800-196370600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:196368800-196370800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:196369000-196369400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:196369000-196369600	Enhancers	Liver	Liver
16	chr1:196369000-196371000	Enhancers	HUVEC	blood vessel
17	chr1:196369200-196369400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr1:196369200-196370000	Weak transcription	H9 Derived Neuronal Progenitor 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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