Variant report

Variant	rs7991823
Chromosome Location	chr13:75954182-75954183
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1156831	0.84[EUR][1000 genomes]
rs1325466	0.97[ASN][1000 genomes]
rs1408930	0.89[ASN][1000 genomes]
rs1821127	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2328940	0.97[ASN][1000 genomes]
rs3825441	0.92[ASN][1000 genomes]
rs5021641	1.00[JPT][hapmap]
rs6562886	0.97[ASN][1000 genomes]
rs6562887	0.97[ASN][1000 genomes]
rs7330729	0.97[ASN][1000 genomes]
rs7992747	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7998651	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9565154	0.97[ASN][1000 genomes]
rs9565157	0.97[ASN][1000 genomes]
rs9573529	0.97[ASN][1000 genomes]
rs9573531	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9573532	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9573533	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:75945600-75955600	Weak transcription	Right Ventricle	heart
2	chr13:75948000-75955800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:75948000-75958400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:75948400-75957400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr13:75949200-75958400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr13:75949200-75959200	Weak transcription	Left Ventricle	heart
7	chr13:75949400-75959200	Weak transcription	Psoas Muscle	Psoas
8	chr13:75950200-75959200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr13:75951800-75959200	Weak transcription	Fetal Thymus	thymus
10	chr13:75953200-75959200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:75953400-75957400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr13:75953800-75955800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr13:75953800-75957200	Weak transcription	Liver	Liver
14	chr13:75954000-75954400	Weak transcription	Fetal Heart	heart
15	chr13:75954000-75957400	Weak transcription	HepG2	liver
16	chr13:75954000-75959000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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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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