Variant report

Variant	rs1237999
Chromosome Location	chr11:85815030-85815031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85812308..85815576-chr11:85816844..85820250,5	K562	blood:
2	chr11:85806231..85808267-chr11:85813007..85815031,2	K562	blood:
3	chr11:85813540..85816535-chr11:85952453..85954783,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10751134	0.95[JPT][hapmap]
rs10792830	0.91[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10792831	0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs10792832	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs10898438	0.91[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10898439	0.86[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs1214669	0.82[ASN][1000 genomes]
rs1898895	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2508692	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2508696	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs3016786	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs3851178	0.91[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3851179	0.91[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs471470	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs472486	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs474479	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs475639	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs484154	0.81[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs493254	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs4944560	0.91[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs497816	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs519961	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs526904	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs532470	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs536841	0.83[MEX][hapmap]
rs541458	0.80[GIH][hapmap]
rs542126	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs543293	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs545592	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs561646	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs561655	1.00[ASW][hapmap];0.84[CEU][hapmap];0.83[CHB][hapmap];0.89[GIH][hapmap];0.96[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs566975	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs572979	0.88[ASN][1000 genomes]
rs573167	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs580887	0.96[ASN][1000 genomes]
rs583162	0.97[ASN][1000 genomes]
rs586274	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs602222	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs609903	0.86[CHB][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs613222	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs629343	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs631611	0.92[ASN][1000 genomes]
rs645293	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs645299	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs659023	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs666682	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs669813	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs676733	0.86[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap]
rs677909	0.91[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs682928	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs683494	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs694011	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs7113976	0.83[CHB][hapmap]
rs7114331	0.91[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7114401	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7129687	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs7941541	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs867611	0.89[CHB][hapmap];1.00[JPT][hapmap]

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	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1237999	GRM5	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85813400-85818200	Weak transcription	HSMM	muscle
2	chr11:85813400-85818200	Weak transcription	NH-A	brain
3	chr11:85813600-85818000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:85813600-85818200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:85813600-85826600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:85813800-85818000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:85813800-85818200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:85813800-85818200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr11:85813800-85818200	Weak transcription	Osteobl	bone
10	chr11:85814600-85815600	Enhancers	Brain Substantia Nigra	brain
11	chr11:85814800-85815400	Enhancers	Brain Angular Gyrus	brain
12	chr11:85814800-85815400	Enhancers	K562	blood
13	chr11:85814800-85815600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:85814800-85815600	Enhancers	Brain Hippocampus Middle	brain
15	chr11:85814800-85815800	Enhancers	Brain Cingulate Gyrus	brain
16	chr11:85815000-85815600	Enhancers	Hela-S3	cervix

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