Variant report

Variant	rs1816608
Chromosome Location	chr2:142530266-142530267
allele	A/T
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:29)

rs_ID	r²[population]
rs10164495	1.00[CHB][hapmap]
rs10496895	1.00[CHB][hapmap]
rs10496901	1.00[CHB][hapmap]
rs10928122	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.92[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12104666	0.81[CHB][hapmap]
rs1437339	1.00[CHB][hapmap]
rs1437340	1.00[CHB][hapmap]
rs16847095	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs16847133	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap]
rs16847142	1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs16847151	1.00[CHB][hapmap]
rs16847202	1.00[CHB][hapmap]
rs16847228	1.00[CHB][hapmap]
rs16847265	0.90[CHB][hapmap]
rs16847310	0.81[CHB][hapmap]
rs16847314	0.81[CHB][hapmap]
rs16847347	0.81[CHB][hapmap]
rs16847368	0.90[CHB][hapmap]
rs16847376	0.81[CHB][hapmap]
rs1898424	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1946779	1.00[CHB][hapmap]
rs2164698	0.90[CHB][hapmap]
rs60058049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748180	1.00[CHB][hapmap]
rs7563727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7584919	1.00[CHB][hapmap]
rs7604400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs906640	0.89[CHB][hapmap]
rs906641	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834394	chr2:142430225-142593264	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv530398	chr2:142474842-142843839	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv459663	chr2:142509570-142568465	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv583236	chr2:142509570-142568465	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv1004379	chr2:142514657-142547597	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv875246	chr2:142527100-142568465	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
7	nsv875247	chr2:142527100-142569099	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
8	nsv875248	chr2:142527100-142572590	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
9	nsv875249	chr2:142527100-142614345	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142530200-142530400	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr2:142530200-142530600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:142530200-142530800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:142530200-142531200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:142530200-142531400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr2:142530200-142531400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:142530200-142531600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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