Variant report

Variant	rs1518450
Chromosome Location	chr2:141111249-141111250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10202846	0.83[CHD][hapmap];0.88[ASN][1000 genomes]
rs12692042	0.89[CHB][hapmap];0.84[CHD][hapmap];0.83[MEX][hapmap]
rs12692048	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12692049	0.87[CHB][hapmap]
rs12992137	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12996989	0.89[CHB][hapmap]
rs12999447	0.89[CHB][hapmap]
rs13001299	0.82[CHB][hapmap];0.82[GIH][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap]
rs13002228	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13004107	0.89[CHB][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap]
rs13009775	0.89[CHB][hapmap];0.87[CHD][hapmap];0.83[MEX][hapmap]
rs13017246	0.88[CHB][hapmap];0.87[CHD][hapmap];0.88[ASN][1000 genomes]
rs13021878	0.89[CHB][hapmap]
rs13382933	0.93[CHB][hapmap];0.86[ASN][1000 genomes]
rs13386580	0.82[CHB][hapmap]
rs13407545	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13414281	0.87[ASN][1000 genomes]
rs1386355	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1401121	0.94[CHB][hapmap];0.93[CHD][hapmap];0.86[ASN][1000 genomes]
rs1401122	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs1401123	0.81[ASN][1000 genomes]
rs16843835	0.91[LWK][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes]
rs17385521	0.81[CHB][hapmap]
rs17477145	0.89[CHB][hapmap]
rs1968911	0.94[CHB][hapmap];0.93[CHD][hapmap];0.83[MEX][hapmap];0.81[ASN][1000 genomes]
rs2046563	1.00[ASW][hapmap];0.88[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2046565	0.81[CHB][hapmap]
rs2945572	0.91[MEX][hapmap];0.80[AMR][1000 genomes]
rs35699793	0.94[CHB][hapmap];0.93[CHD][hapmap];0.83[MEX][hapmap];0.81[ASN][1000 genomes]
rs35871598	0.81[ASN][1000 genomes]
rs4954828	0.88[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs591185	0.87[ASN][1000 genomes]
rs597222	0.84[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs600802	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap]
rs623670	0.89[CEU][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap]
rs633689	0.94[CHB][hapmap];0.87[CHD][hapmap]
rs639195	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs641780	0.86[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap]
rs6430898	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs650706	0.87[MEX][hapmap];0.80[AMR][1000 genomes]
rs652923	0.94[CHB][hapmap];0.87[CHD][hapmap];0.82[ASN][1000 genomes]
rs655308	0.91[MEX][hapmap]
rs658631	0.94[CHB][hapmap]
rs667446	1.00[CHB][hapmap];0.93[CHD][hapmap];0.83[MEX][hapmap]
rs682371	0.94[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7563544	1.00[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.99[ASN][1000 genomes]
rs825429	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754266	chr2:141023643-141270786	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv875185	chr2:141055080-141179257	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	nsv1002168	chr2:141056296-141157971	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	nsv459496	chr2:141111125-141151319	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv583189	chr2:141111125-141151319	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141106200-141113600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:141106800-141112200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:141106800-141113000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:141107000-141111400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:141107400-141113400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:141107600-141111600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:141111000-141111600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:141111000-141111800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:141111000-141112000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:141111000-141112200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:141111200-141112400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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