Variant report

Variant	rs2075014
Chromosome Location	chr7:77973787-77973788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10254017	0.98[ASN][1000 genomes]
rs12154641	0.90[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs12705409	0.89[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs16885938	0.83[YRI][hapmap]
rs1860538	0.84[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1990370	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2075013	0.90[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2159511	0.97[ASN][1000 genomes]
rs2534646	0.83[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs2534647	0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2534648	0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2534649	0.84[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs2691513	0.84[CHB][hapmap];0.93[JPT][hapmap]
rs2691530	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2691531	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2691532	0.94[ASN][1000 genomes]
rs2691533	0.84[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs2691535	0.84[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2691538	0.84[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2691539	0.84[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2691540	0.84[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs2691544	0.80[ASN][1000 genomes]
rs2691545	0.80[ASN][1000 genomes]
rs2691546	0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.97[ASN][1000 genomes]
rs4371942	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4374924	0.84[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs4556031	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6976483	0.90[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs798308	0.84[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs798309	0.84[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs798310	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs798314	0.84[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs798317	0.80[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	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	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2075014	RPL13AP17	cis	lymphoblastoid	seeQTL
rs2075014	MDH2	cis	cerebellum	SCAN
rs2075014	SRRM3	cis	parietal	SCAN
rs2075014	RSBN1L	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:77946200-77976000	Weak transcription	Aorta	Aorta
2	chr7:77953600-77986600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:77957000-77975800	Weak transcription	Brain Angular Gyrus	brain
4	chr7:77957200-77975800	Weak transcription	Brain Substantia Nigra	brain
5	chr7:77957600-77974800	Weak transcription	Brain Hippocampus Middle	brain
6	chr7:77957600-77976000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:77957600-77978600	Weak transcription	Brain Anterior Caudate	brain
8	chr7:77958000-77979800	Weak transcription	Fetal Brain Female	brain
9	chr7:77964000-77981800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:77964800-77974600	Weak transcription	Ovary	ovary
11	chr7:77970200-77978400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:77970600-77978400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:77971800-77973800	Weak transcription	Lung	lung
14	chr7:77972400-77974600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:77972600-77975600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:77972600-77976200	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:77972800-77975400	Weak transcription	Fetal Brain Male	brain
18	chr7:77972800-78001200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr7:77973200-77973800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr7:77973400-77973800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:77973600-77977400	Enhancers	Fetal Heart	heart

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