Variant report

Variant	rs7487140
Chromosome Location	chr12:40870601-40870602
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10083205	0.95[YRI][hapmap]
rs10784705	0.86[YRI][hapmap]
rs10878714	0.83[ASN][1000 genomes]
rs10878731	0.89[CEU][hapmap];0.94[CHB][hapmap];0.80[JPT][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11177226	0.86[YRI][hapmap]
rs1492318	0.88[CHB][hapmap];0.80[JPT][hapmap];0.80[ASN][1000 genomes]
rs1492319	0.94[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1602635	0.88[YRI][hapmap]
rs1838352	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1838353	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2588399	0.94[CEU][hapmap];0.95[YRI][hapmap]
rs2588400	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2920814	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2920828	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2933352	0.94[CEU][hapmap];0.95[YRI][hapmap]
rs2933357	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7972739	0.87[YRI][hapmap]
rs7974188	0.88[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	esv1848303	chr12:40867011-40887238	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv1850439	chr12:40867211-40887867	Enhancers ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv20428	chr12:40867874-40884927	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	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	chr12:40869400-40872800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr12:40869600-40872800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:40869600-40873000	Weak transcription	HMEC	breast
4	chr12:40870600-40872800	Weak transcription	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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