Variant report

Variant	rs3828242
Chromosome Location	chr2:212274937-212274938
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12992515	1.00[GIH][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs12998535	0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13003941	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs13005841	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs13030304	1.00[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap]
rs1816532	1.00[GIH][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs1821659	0.83[ASN][1000 genomes]
rs1836719	0.88[ASN][1000 genomes]
rs1836720	0.92[CHD][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs3748962	0.89[CHD][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];0.88[MKK][hapmap];0.81[ASN][1000 genomes]
rs3791686	0.80[CHB][hapmap];0.92[CHD][hapmap];0.84[JPT][hapmap];0.85[MEX][hapmap];0.88[ASN][1000 genomes]
rs3791695	0.92[EUR][1000 genomes]
rs6710946	1.00[CEU][hapmap];0.84[LWK][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs7585000	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs934606	0.80[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834523	chr2:212163236-212331393	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv584314	chr2:212238982-212292521	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
3	nsv460065	chr2:212244520-212276710	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
4	nsv584315	chr2:212244520-212276710	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
5	nsv1000722	chr2:212272622-212465143	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv875777	chr2:212274937-212295875	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212271000-212275000	Enhancers	Fetal Brain Male	brain
2	chr2:212272200-212275200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:212272600-212275200	Enhancers	Brain Germinal Matrix	brain
4	chr2:212273600-212278400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:212274400-212275200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:212274800-212275000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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