Variant report

Variant	rs4131995
Chromosome Location	chr1:184642085-184642086
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11804210	0.83[ASN][1000 genomes]
rs56335635	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60400761	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6660367	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66640078	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6690603	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7512112	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7513276	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7542913	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9286853	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9660114	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9660352	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9661302	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184636400-184643200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:184638000-184642800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:184638800-184643200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:184638800-184643600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:184641400-184643800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr1:184641400-184672800	Weak transcription	Gastric	stomach
7	chr1:184641600-184642400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr1:184641600-184642800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:184641800-184642200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:184641800-184642200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:184641800-184642400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr1:184641800-184642400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:184641800-184643000	Weak transcription	H9 Cell Line	embryonic stem cell

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

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