Variant report

Variant	rs4462080
Chromosome Location	chr1:196567597-196567598
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10494743	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs10754188	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs10754195	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10754196	0.82[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs10754198	0.92[ASN][1000 genomes]
rs10801533	0.83[JPT][hapmap]
rs10801537	0.85[JPT][hapmap]
rs10801538	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs10801550	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10922073	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs10922075	0.84[JPT][hapmap]
rs10922082	0.83[JPT][hapmap]
rs10922083	0.84[JPT][hapmap]
rs10922084	0.85[JPT][hapmap]
rs10922088	0.87[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs12034150	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12049567	0.85[JPT][hapmap]
rs12065463	0.83[JPT][hapmap]
rs12562176	0.95[CHB][hapmap];0.89[JPT][hapmap];0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12727032	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1416962	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs1538686	0.83[JPT][hapmap]
rs16840224	0.82[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs1832617	0.81[EUR][1000 genomes]
rs2878559	0.85[JPT][hapmap]
rs4425932	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4618911	0.96[CHB][hapmap];0.90[JPT][hapmap];0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4658039	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs61819890	0.90[ASN][1000 genomes]
rs6428349	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6696801	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs7548553	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs869257	0.96[CHB][hapmap];0.90[JPT][hapmap];0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs946755	0.96[CHB][hapmap];0.90[JPT][hapmap];0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9659527	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196557800-196574200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr1:196558000-196574400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:196558400-196574200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:196558400-196575000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:196560200-196568200	Weak transcription	Liver	Liver
6	chr1:196560400-196568600	Weak transcription	Ovary	ovary
7	chr1:196560600-196571200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:196564000-196575800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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