Variant report

Variant	rs1731951
Chromosome Location	chr7:137075847-137075848
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1367593	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs161340	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs161341	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs161342	0.92[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs161344	0.89[ASN][1000 genomes]
rs161345	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1669025	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs167668	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1731947	0.92[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs178612	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs192935	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs192936	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2599356	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs320683	0.80[CEU][hapmap];0.82[JPT][hapmap]
rs320684	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs320686	0.89[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs320687	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs320689	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs320690	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs320691	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs320692	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs320693	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs320694	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs320695	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs320697	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs725838	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869820	chr7:136990386-137347718	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1027868	chr7:137004690-137311653	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv539134	chr7:137004690-137311653	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv889242	chr7:137005808-137081223	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription 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	8 gene(s)	inside rSNPs	diseases
6	nsv981853	chr7:137057411-137080952	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1731951	AC078842.3	cis	Thyroid	GTEx
rs1731951	PTN	cis	Nerve Tibial	GTEx
rs1731951	DGKI	cis	cerebellum	SCAN
rs1731951	LUZP6	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137066200-137084800	Weak transcription	HSMM	muscle
2	chr7:137070200-137087000	Weak transcription	Brain Angular Gyrus	brain
3	chr7:137071000-137083400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:137072400-137077000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:137072400-137077200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:137072400-137077200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:137073600-137086600	Weak transcription	Fetal Brain Female	brain
8	chr7:137073800-137081200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:137073800-137095600	Weak transcription	HSMMtube	muscle
10	chr7:137074000-137076000	Enhancers	Fetal Stomach	stomach
11	chr7:137074000-137084800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:137074200-137076400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:137074400-137084000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:137075000-137076000	Strong transcription	Osteobl	bone
15	chr7:137075000-137080200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:137075000-137080200	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:137075000-137087000	Weak transcription	Brain Anterior Caudate	brain
18	chr7:137075200-137076000	Strong transcription	Aorta	Aorta
19	chr7:137075200-137076200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:137075200-137077400	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr7:137075200-137084800	Weak transcription	Fetal Heart	heart
22	chr7:137075400-137077600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:137075400-137080200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:137075600-137076000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:137075600-137076000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:137075600-137076000	Strong transcription	Adipose Nuclei	Adipose
27	chr7:137075600-137076600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links