Variant report

Variant	rs7998240
Chromosome Location	chr13:76081523-76081524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1323695	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs2328948	0.91[AFR][1000 genomes]
rs4885305	0.84[AFR][1000 genomes]
rs7336498	1.00[YRI][hapmap]
rs9318350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9543930	1.00[AMR][1000 genomes]

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	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
2	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
3	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
4	nsv900562	chr13:76072743-76176680	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr13:76078400-76082600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr13:76079000-76082600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr13:76079600-76082200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:76080400-76083200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr13:76081000-76081600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr13:76081200-76081600	Enhancers	HMEC	breast
7	chr13:76081200-76081800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr13:76081200-76082000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr13:76081200-76082200	Enhancers	Fetal Muscle Leg	muscle
10	chr13:76081200-76082600	Enhancers	Psoas Muscle	Psoas
11	chr13:76081200-76083200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr13:76081200-76083400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr13:76081400-76081600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:76081400-76081600	Enhancers	Gastric	stomach
15	chr13:76081400-76082600	Enhancers	Lung	lung
16	chr13:76081400-76083600	Weak transcription	iPS DF 19.11 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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