Variant report

Variant	rs7949619
Chromosome Location	chr11:27139110-27139111
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1044273	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes]
rs1044281	1.00[CHD][hapmap]
rs10767607	0.92[EUR][1000 genomes]
rs10767608	0.92[EUR][1000 genomes]
rs10767609	1.00[CEU][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs10767611	0.92[EUR][1000 genomes]
rs10835115	0.92[EUR][1000 genomes]
rs10835116	0.92[EUR][1000 genomes]
rs11029826	0.92[EUR][1000 genomes]
rs11029827	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11029833	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs11029835	0.92[EUR][1000 genomes]
rs11029837	0.98[EUR][1000 genomes]
rs11511900	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11602261	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11605939	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11821389	0.84[ASW][hapmap];0.93[CEU][hapmap];0.84[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap]
rs12282200	0.91[EUR][1000 genomes]
rs1372903	0.90[AFR][1000 genomes]
rs1442938	0.92[EUR][1000 genomes]
rs1470270	0.80[AFR][1000 genomes]
rs1550618	0.99[EUR][1000 genomes]
rs17309656	1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs2015372	0.84[ASW][hapmap];0.93[CEU][hapmap];0.81[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap]
rs2218317	0.92[EUR][1000 genomes]
rs3183973	0.93[CEU][hapmap];1.00[YRI][hapmap]
rs4278476	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs4328173	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs4923422	0.92[EUR][1000 genomes]
rs4923423	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56196445	0.92[EUR][1000 genomes]
rs60028895	0.99[EUR][1000 genomes]
rs60376193	0.85[AFR][1000 genomes]
rs7129825	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7925797	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7925996	0.99[EUR][1000 genomes]
rs972904	0.89[ASW][hapmap];0.93[CEU][hapmap];0.89[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs985597	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs987687	1.00[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916187	chr11:26576875-27328603	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv949332	chr11:26935972-27223492	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv897147	chr11:26983363-27258899	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1040964	chr11:26998213-27223388	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv540975	chr11:26998213-27223388	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv949575	chr11:27005687-27233359	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv533052	chr11:27006061-27225374	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv553912	chr11:27014032-27240951	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv467781	chr11:27019331-27240951	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv553913	chr11:27019331-27240951	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7949619	CCDC34	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:27134000-27140000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr11:27137000-27140600	Strong transcription	Liver	Liver
3	chr11:27137200-27144600	Weak transcription	Brain Substantia Nigra	brain
4	chr11:27137600-27140600	Weak transcription	Aorta	Aorta
5	chr11:27138000-27141800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr11:27138000-27142000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:27138000-27142000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:27138000-27142200	Enhancers	Osteobl	bone
9	chr11:27138000-27142400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:27138400-27139600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:27138400-27141800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:27138600-27140000	Weak transcription	NHDF-Ad	bronchial
13	chr11:27139000-27140400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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