Variant report

Variant	rs12613571
Chromosome Location	chr2:212845994-212845995
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10497954	1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12476163	1.00[YRI][hapmap]
rs12617457	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13409719	0.91[ASN][1000 genomes]
rs1402719	0.82[CHB][hapmap]
rs16847307	1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16847322	1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16847346	0.89[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17602011	0.90[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs2102996	1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2888037	0.85[CHB][hapmap]
rs4672629	1.00[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap]
rs4673644	0.81[CHB][hapmap]
rs6435682	0.82[CHB][hapmap]
rs6707590	0.80[CHB][hapmap]
rs707284	0.85[CHB][hapmap]
rs839501	0.82[CHB][hapmap]
rs839504	0.82[CHB][hapmap]
rs987320	0.89[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap]
rs987321	1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs987322	1.00[CHB][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34128	chr2:212581485-212857122	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv834525	chr2:212693190-212860356	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv875791	chr2:212824999-212874828	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv875792	chr2:212824999-212896571	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv584343	chr2:212830200-212906355	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1012269	chr2:212837487-212915640	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv525127	chr2:212839046-212916758	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1011572	chr2:212840066-213152279	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv875793	chr2:212842777-212866473	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
10	nsv875794	chr2:212842777-212885510	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
11	nsv875795	chr2:212845292-212868624	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
12	nsv875796	chr2:212845292-212874828	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212845800-212847400	Enhancers	Fetal Heart	heart
2	chr2:212845800-212848200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:212845800-212848200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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