Variant report

Variant	rs11619783
Chromosome Location	chr13:76002017-76002018
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10507830	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11148993	1.00[CHB][hapmap]
rs11618631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17064454	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17064478	0.89[ASN][1000 genomes]
rs2031505	1.00[CHB][hapmap]
rs2031506	1.00[CHB][hapmap]
rs2146981	1.00[CHB][hapmap]
rs4576949	1.00[ASN][1000 genomes]
rs4885295	1.00[CHB][hapmap]
rs4885298	1.00[CHB][hapmap]
rs7998043	1.00[ASN][1000 genomes]
rs9543936	1.00[ASN][1000 genomes]
rs9573549	1.00[ASN][1000 genomes]
rs9593081	1.00[CHB][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	nsv498067	chr13:75178898-76012362	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:75993600-76006800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:75993600-76006800	Weak transcription	Hela-S3	cervix
3	chr13:75993600-76011200	Weak transcription	Fetal Lung	lung
4	chr13:75994400-76004600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr13:75994800-76002200	Weak transcription	HepG2	liver
6	chr13:75995600-76005000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:75996200-76004600	Weak transcription	Right Atrium	heart
8	chr13:75996400-76002800	Weak transcription	Left Ventricle	heart
9	chr13:75996400-76002800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr13:75996800-76003000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:76000000-76004400	Weak transcription	GM12878-XiMat	blood
12	chr13:76000000-76004600	Weak transcription	Fetal Brain Male	brain
13	chr13:76000200-76003000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr13:76000600-76011200	Weak transcription	K562	blood
15	chr13:76001400-76006400	Weak transcription	HMEC	breast
16	chr13:76001600-76003200	Enhancers	Psoas Muscle	Psoas
17	chr13:76001800-76007800	Enhancers	Fetal Heart	heart
18	chr13:76002000-76002600	Enhancers	Skeletal Muscle Female	skeletal muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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