Variant report

Variant	rs17150527
Chromosome Location	chr7:77956975-77956976
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10464619	0.82[ASN][1000 genomes]
rs10485890	1.00[JPT][hapmap]
rs12670360	1.00[JPT][hapmap]
rs16885929	0.91[ASN][1000 genomes]
rs16885940	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs16885947	0.91[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17147824	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17150532	1.00[CHB][hapmap];0.91[YRI][hapmap]
rs17150545	0.82[ASN][1000 genomes]
rs17150548	1.00[CHB][hapmap]
rs17150550	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17150559	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17150560	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17150562	1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17150566	0.91[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17150575	0.82[ASN][1000 genomes]
rs17150580	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17150594	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17344821	1.00[JPT][hapmap]
rs17352924	1.00[JPT][hapmap]
rs17353329	1.00[JPT][hapmap]
rs17430936	1.00[JPT][hapmap]
rs60689247	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6948761	1.00[CHB][hapmap]
rs7795283	1.00[JPT][hapmap]
rs7808944	1.00[JPT][hapmap]

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	nsv607654	chr7:77537964-78014329	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1034622	chr7:77579053-77958967	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv538984	chr7:77579053-77958967	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv532146	chr7:77612319-77958966	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1022764	chr7:77911072-78316607	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17150527	PION	cis	cerebellum	SCAN
rs17150527	PION	cis	parietal	SCAN
rs17150527	RSBN1L	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:77946200-77976000	Weak transcription	Aorta	Aorta
2	chr7:77953600-77957800	Weak transcription	Fetal Brain Male	brain
3	chr7:77953600-77986600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:77955000-77957200	Enhancers	Placenta	Placenta
5	chr7:77955000-77957400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:77955200-77963000	Weak transcription	Esophagus	oesophagus
7	chr7:77955400-77958800	Enhancers	Fetal Heart	heart
8	chr7:77955600-77958600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr7:77955800-77957000	Enhancers	Right Ventricle	heart
10	chr7:77955800-77957600	Enhancers	Brain Anterior Caudate	brain
11	chr7:77955800-77957600	Enhancers	Brain Hippocampus Middle	brain
12	chr7:77955800-77957600	Enhancers	Fetal Muscle Leg	muscle
13	chr7:77955800-77958800	Enhancers	Brain Germinal Matrix	brain
14	chr7:77956200-77957000	Enhancers	Brain Angular Gyrus	brain
15	chr7:77956200-77957000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:77956200-77957000	Enhancers	Placenta Amnion	Placenta Amnion
17	chr7:77956200-77957000	Enhancers	Psoas Muscle	Psoas
18	chr7:77956200-77957200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr7:77956200-77957200	Enhancers	Brain Substantia Nigra	brain
20	chr7:77956400-77957000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr7:77956400-77957000	Enhancers	Brain Cingulate Gyrus	brain
22	chr7:77956600-77958000	Enhancers	Fetal Brain Female	brain
23	chr7:77956600-77958200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:77956800-77964400	Weak transcription	Ovary	ovary

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