Variant report

Variant	rs6040751
Chromosome Location	chr20:11519789-11519790
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1076794	0.85[ASN][1000 genomes]
rs1998031	0.86[ASN][1000 genomes]
rs2207910	0.93[EUR][1000 genomes]
rs2423563	0.90[ASN][1000 genomes]
rs2423565	0.89[ASN][1000 genomes]
rs2423566	0.84[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2423572	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2423574	0.84[ASN][1000 genomes]
rs2423575	0.84[ASN][1000 genomes]
rs4814020	0.90[ASN][1000 genomes]
rs6040739	0.82[EUR][1000 genomes]
rs6040752	0.90[ASN][1000 genomes]
rs6040758	0.84[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6131233	0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1851689	chr20:11515516-11758411	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11513000-11523600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:11516400-11521200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr20:11516600-11521800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr20:11518200-11520800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr20:11518200-11520800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr20:11518200-11521000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr20:11518200-11523600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr20:11518400-11522200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr20:11518600-11520400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr20:11518600-11520800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr20:11518600-11520800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr20:11518800-11519800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr20:11518800-11519800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr20:11518800-11522200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr20:11519400-11522000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr20:11519600-11520400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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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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