Variant report

Variant	rs510414
Chromosome Location	chr1:71401728-71401729
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:71381219..71383532-chr1:71401301..71402871,2	K562	blood:
2	chr1:71398892..71400673-chr1:71400772..71403313,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1005749	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs1008484	0.91[EUR][1000 genomes]
rs10736414	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10789314	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10889907	0.83[EUR][1000 genomes]
rs12119848	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[MEX][hapmap];0.83[EUR][1000 genomes]
rs12131515	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs12145536	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs12145635	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs1474663	0.90[CEU][hapmap];0.80[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1983587	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2050065	0.80[GIH][hapmap]
rs2206344	1.00[ASW][hapmap];0.90[CEU][hapmap];0.80[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.91[EUR][1000 genomes]
rs2244018	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2247098	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2421732	0.91[EUR][1000 genomes]
rs2744897	0.91[EUR][1000 genomes]
rs2744898	0.91[EUR][1000 genomes]
rs2744900	0.87[EUR][1000 genomes]
rs2744902	1.00[MEX][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs2744907	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs2744908	0.81[CEU][hapmap];0.80[GIH][hapmap];1.00[MEX][hapmap];0.83[EUR][1000 genomes]
rs2744916	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2744918	0.90[CEU][hapmap];0.80[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs2817857	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2817860	0.91[EUR][1000 genomes]
rs3000466	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs493489	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs496216	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs508513	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs532693	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs571705	0.86[AMR][1000 genomes]
rs573688	0.86[AMR][1000 genomes]
rs578096	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs579558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs584532	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs600364	0.86[AMR][1000 genomes]
rs61777123	0.82[EUR][1000 genomes]
rs61777126	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61778911	0.83[EUR][1000 genomes]
rs61778912	0.83[EUR][1000 genomes]
rs626398	0.82[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs6424415	0.91[EUR][1000 genomes]
rs645618	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs651265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs653699	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs657265	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6670515	0.91[EUR][1000 genomes]
rs6679003	0.82[EUR][1000 genomes]
rs6690000	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72671088	0.83[EUR][1000 genomes]
rs72671095	0.83[EUR][1000 genomes]
rs7529930	0.83[EUR][1000 genomes]
rs847704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847705	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs847734	1.00[CHB][hapmap]
rs847735	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs880099	0.83[EUR][1000 genomes]
rs9970600	0.90[CEU][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845198	chr1:71274759-71514969	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv830148	chr1:71310366-71483932	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv461840	chr1:71364105-71468493	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv546471	chr1:71364105-71468493	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1002663	chr1:71372715-71465508	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv534987	chr1:71372715-71465508	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv871313	chr1:71391646-71489438	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71400600-71404800	Weak transcription	Aorta	Aorta
2	chr1:71400800-71412400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:71401000-71406400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:71401600-71401800	Active TSS	Sigmoid Colon	Sigmoid Colon

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