Variant report

Variant	rs7580512
Chromosome Location	chr2:210323923-210323924
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:210322985..210324629-chr2:210333170..210335360,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10173260	0.91[ASN][1000 genomes]
rs10208979	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1031461	1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs10737939	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10737940	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11686346	0.93[ASN][1000 genomes]
rs11687844	0.92[ASN][1000 genomes]
rs11884711	0.80[EUR][1000 genomes]
rs11885022	0.80[EUR][1000 genomes]
rs11885999	0.83[CEU][hapmap]
rs11895827	0.80[EUR][1000 genomes]
rs12052799	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12053460	0.99[ASN][1000 genomes]
rs12614655	0.80[EUR][1000 genomes]
rs12621170	0.80[EUR][1000 genomes]
rs13013173	0.80[EUR][1000 genomes]
rs1563122	0.80[EUR][1000 genomes]
rs1563123	0.80[EUR][1000 genomes]
rs1563124	0.80[EUR][1000 genomes]
rs1563125	0.80[EUR][1000 genomes]
rs16843019	0.80[EUR][1000 genomes]
rs16843022	0.91[CEU][hapmap];0.82[MKK][hapmap];0.80[EUR][1000 genomes]
rs2123700	0.94[ASN][1000 genomes]
rs2198475	1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs2198476	0.93[ASN][1000 genomes]
rs2198477	0.93[ASN][1000 genomes]
rs2198478	1.00[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2219085	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2365657	1.00[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];0.84[MEX][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2365658	0.96[ASN][1000 genomes]
rs288046	0.89[ASN][1000 genomes]
rs288062	0.93[ASN][1000 genomes]
rs288064	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs288065	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs288067	0.94[ASN][1000 genomes]
rs288068	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.85[MEX][hapmap];0.94[ASN][1000 genomes]
rs2886435	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2886436	0.95[ASN][1000 genomes]
rs4672554	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4673481	0.99[ASN][1000 genomes]
rs4673482	1.00[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs6435530	1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs6435531	1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs6728378	1.00[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs6738205	0.99[ASN][1000 genomes]
rs6740822	0.93[ASN][1000 genomes]
rs7559831	0.90[ASN][1000 genomes]
rs7561678	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs7562585	0.90[ASN][1000 genomes]
rs7565225	0.80[EUR][1000 genomes]
rs7568354	0.99[ASN][1000 genomes]
rs7574854	0.93[ASN][1000 genomes]
rs7586196	0.93[ASN][1000 genomes]
rs7593377	0.96[ASN][1000 genomes]
rs7601095	0.95[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs7604320	0.80[EUR][1000 genomes]
rs852734	0.90[ASN][1000 genomes]
rs9288409	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs9917164	0.80[EUR][1000 genomes]
rs997109	1.00[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.97[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	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv834519	chr2:210271017-210400153	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7580512	GPR1	cis	cerebellum	SCAN
rs7580512	C2orf67	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210306600-210337000	Weak transcription	Aorta	Aorta
2	chr2:210308600-210324200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:210316400-210327600	Weak transcription	Fetal Brain Male	brain
4	chr2:210316400-210328000	Weak transcription	Brain Germinal Matrix	brain
5	chr2:210319800-210331200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:210319800-210341000	Weak transcription	Fetal Brain Female	brain
7	chr2:210321000-210324400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:210321000-210324600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:210322200-210324600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:210322600-210324000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:210322600-210337200	Weak transcription	Brain Anterior Caudate	brain
12	chr2:210322800-210324400	Enhancers	Fetal Muscle Leg	muscle
13	chr2:210322800-210325200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:210323200-210325200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:210323400-210324000	Enhancers	H1 Cell Line	embryonic stem cell

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