Variant report

Variant	rs716000
Chromosome Location	chr2:141722719-141722720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10928081	0.91[CEU][hapmap];0.80[JPT][hapmap];0.81[YRI][hapmap]
rs10928082	0.80[JPT][hapmap]
rs11888460	0.80[CEU][hapmap]
rs12471645	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12474609	0.80[JPT][hapmap]
rs12619314	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs12622921	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12623323	0.89[CEU][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12624219	0.80[CEU][hapmap];0.84[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1346639	0.81[JPT][hapmap]
rs16845014	0.90[CHB][hapmap];0.87[YRI][hapmap]
rs16845115	0.80[CEU][hapmap];0.84[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1991540	0.80[YRI][hapmap]
rs2091300	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2380917	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2380918	0.82[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3921277	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56925193	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6744686	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7609294	0.84[EUR][1000 genomes];0.86[ASN][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	nsv583198	chr2:141510791-142150620	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1003008	chr2:141518795-141763505	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv875208	chr2:141657878-141795620	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv470489	chr2:141688383-141731152	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1014208	chr2:141707558-141790148	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv817518	chr2:141714174-142287302	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv963176	chr2:141719773-141722999	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141721400-141728400	Weak transcription	Dnd41	blood
2	chr2:141722400-141722800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr2:141722600-141723000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:141722600-141723000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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