Variant report

Variant	rs2237636
Chromosome Location	chr7:103412484-103412485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:103409588..103414279-chr7:103419372..103424003,5	K562	blood:
2	chr7:103404584..103406176-chr7:103410520..103412524,2	K562	blood:
3	chr7:103410814..103414279-chr7:103419372..103422608,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10487171	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.96[TSI][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11974819	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12531131	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs1404431	0.84[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.86[ASN][1000 genomes]
rs141473	0.80[CHD][hapmap]
rs17155576	1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17156394	0.83[JPT][hapmap]
rs1963647	0.85[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap];0.85[TSI][hapmap]
rs2214943	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap];0.83[MKK][hapmap];0.96[TSI][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3819484	0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3819489	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3847070	0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4140848	0.93[CEU][hapmap];1.00[CHB][hapmap];0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4729931	0.85[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.93[TSI][hapmap];0.86[ASN][1000 genomes]
rs4729932	0.85[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap];0.85[TSI][hapmap]
rs58581358	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60403171	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60851159	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67342215	0.85[ASN][1000 genomes]
rs67399010	0.85[ASN][1000 genomes]
rs67649823	0.86[ASN][1000 genomes]
rs73412894	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs745540	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs878458	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427799	chr7:103250733-103454202	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1016328	chr7:103396911-103443565	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv539048	chr7:103396911-103443565	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2237636	ATXN7L1	cis	cerebellum	SCAN
rs2237636	TSC22D4	cis	cerebellum	SCAN
rs2237636	POLR2J	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103390000-103434000	Weak transcription	K562	blood
2	chr7:103405800-103413200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:103406000-103433600	Weak transcription	HepG2	liver
4	chr7:103407600-103413600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:103411800-103413200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:103411800-103413200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:103412000-103412800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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