Variant report

Variant	rs6918742
Chromosome Location	chr6:44341980-44341981
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10807300	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1296018	0.84[CHD][hapmap]
rs13214191	0.81[EUR][1000 genomes]
rs2273667	0.86[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap]
rs2297333	0.81[CHB][hapmap];0.84[CHD][hapmap]
rs4143678	0.81[CHB][hapmap]
rs4711781	0.81[CHD][hapmap]
rs545455	0.84[CHD][hapmap]
rs548342	0.82[CHD][hapmap]
rs559035	0.84[CHD][hapmap]
rs6942323	0.81[CHB][hapmap]
rs864127	0.85[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap]
rs9395017	0.86[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap]
rs9462985	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs9472273	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv1019145	chr6:44313576-44421440	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS 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 miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv1794353	chr6:44333489-44350716	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6918742	CCND3	cis	parietal	SCAN
rs6918742	XPO5	cis	cerebellum	SCAN
rs6918742	CD2AP	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44335800-44342400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:44340400-44342000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:44340400-44342000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:44340400-44342400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:44340400-44343000	Enhancers	HMEC	breast
6	chr6:44340400-44343000	Enhancers	NHEK	skin
7	chr6:44341000-44342600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:44341400-44342000	Enhancers	HSMM	muscle
9	chr6:44341400-44342200	Bivalent Enhancer	HUVEC	blood vessel
10	chr6:44341600-44342000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr6:44341800-44342800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:44341800-44343000	Enhancers	Liver	Liver
13	chr6:44341800-44354600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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