Variant report

Variant	rs74018305
Chromosome Location	chr16:31260147-31260148
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1423935	1.00[AMR][1000 genomes]
rs74015512	1.00[AMR][1000 genomes]
rs74018304	1.00[AMR][1000 genomes]
rs74018306	1.00[AMR][1000 genomes]
rs74018313	1.00[AMR][1000 genomes]
rs8048937	1.00[AMR][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	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
2	nsv1066073	chr16:31219071-31278572	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 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	chr16:31250400-31262600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:31256600-31264000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr16:31256600-31264200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr16:31257800-31260200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:31258000-31263400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr16:31259000-31260600	Enhancers	HMEC	breast
7	chr16:31259000-31260800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr16:31259200-31260400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr16:31259200-31260400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:31259200-31260400	Enhancers	NHEK	skin
11	chr16:31259200-31260600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:31259200-31260600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr16:31259200-31261600	Enhancers	K562	blood
14	chr16:31259400-31260400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr16:31259800-31260200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr16:31259800-31260200	Enhancers	Esophagus	oesophagus

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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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