Variant report

Variant	rs7949972
Chromosome Location	chr11:34502042-34502043
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1323690	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1535721	0.81[ASN][1000 genomes]
rs766826	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs7947771	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv832114	chr11:34424428-34607851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7949972	DEPDC7	cis	cerebellum	SCAN
rs7949972	PRR5L	cis	parietal	SCAN
rs7949972	CAT	cis	Whole Blood	GTEx
rs7949972	ELP4	cis	cerebellum	SCAN
rs7949972	CAT	cis	multi-tissue	Pritchard
rs7949972	NAT10	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34498600-34502200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:34500400-34502400	Enhancers	Liver	Liver
3	chr11:34501400-34502400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr11:34501400-34502400	Enhancers	HSMMtube	muscle
5	chr11:34501400-34503200	Enhancers	Hela-S3	cervix
6	chr11:34501600-34502200	Enhancers	NH-A	brain
7	chr11:34501600-34502200	Bivalent Enhancer	Osteobl	bone
8	chr11:34501600-34503400	Enhancers	HMEC	breast
9	chr11:34501800-34502200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:34501800-34502200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
11	chr11:34501800-34502200	Enhancers	Fetal Muscle Leg	muscle
12	chr11:34501800-34502200	Enhancers	HepG2	liver
13	chr11:34501800-34502200	Enhancers	HSMM	muscle
14	chr11:34501800-34502400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:34501800-34502400	Enhancers	Psoas Muscle	Psoas
16	chr11:34501800-34502400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr11:34501800-34502400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr11:34501800-34503400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:34502000-34502200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:34502000-34502200	Enhancers	Lung	lung
21	chr11:34502000-34502400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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