Variant report

Variant	rs12699983
Chromosome Location	chr7:18846659-18846660
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12699982	1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12699984	1.00[CHB][hapmap]
rs12699985	1.00[CHB][hapmap];0.80[YRI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13241157	1.00[CHB][hapmap]
rs17349622	1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs212661	1.00[JPT][hapmap]
rs2440598	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs2588594	0.86[ASN][1000 genomes]
rs34790628	0.81[ASN][1000 genomes]
rs35286474	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35930688	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4001107	1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6972422	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs6974299	1.00[CHB][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv887813	chr7:18720135-18995552	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv887814	chr7:18751998-18886177	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18844000-18847200	Weak transcription	HMEC	breast
2	chr7:18844000-18858000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:18844400-18847400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:18845400-18847200	Weak transcription	Aorta	Aorta
5	chr7:18845600-18847200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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Input of quick search could be:

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

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