Variant report

Variant	rs13242776
Chromosome Location	chr7:38624195-38624196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10269719	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10278207	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12154721	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12534417	0.91[ASN][1000 genomes]
rs12536104	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12536957	1.00[ASW][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12537926	0.81[EUR][1000 genomes]
rs12539651	0.91[ASN][1000 genomes]
rs12701637	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12701638	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2116667	1.00[ASW][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs28564242	0.91[ASN][1000 genomes]
rs28815597	0.91[ASN][1000 genomes]
rs4723771	0.97[ASN][1000 genomes]
rs62444236	0.91[ASN][1000 genomes]
rs6946301	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6946369	1.00[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.94[ASN][1000 genomes]
rs7807645	0.88[ASN][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	nsv932229	chr7:38248340-38727527	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv606674	chr7:38619348-38655758	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13242776	DPY19L2P1	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38608400-38634800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:38615400-38626800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:38623200-38626200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr7:38623400-38624200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:38623400-38629400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:38623800-38624200	Flanking Active TSS	NHDF-Ad	bronchial
7	chr7:38623800-38624600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:38623800-38625200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:38623800-38625600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:38623800-38626000	Enhancers	Stomach Smooth Muscle	stomach
11	chr7:38624000-38624400	Flanking Active TSS	NH-A	brain
12	chr7:38624000-38624600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:38624000-38624600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr7:38624000-38625000	Enhancers	Adipose Nuclei	Adipose
15	chr7:38624000-38625000	Flanking Active TSS	Fetal Heart	heart
16	chr7:38624000-38625000	Enhancers	Fetal Muscle Leg	muscle
17	chr7:38624000-38625000	Enhancers	Right Atrium	heart
18	chr7:38624000-38625200	Enhancers	Left Ventricle	heart
19	chr7:38624000-38625200	Enhancers	Right Ventricle	heart
20	chr7:38624000-38626000	Enhancers	Aorta	Aorta

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