Variant report

Variant	rs13006510
Chromosome Location	chr2:179682878-179682879
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10190741	0.84[GIH][hapmap]
rs11693372	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12464151	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12464215	0.84[GIH][hapmap]
rs12465459	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12469367	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12471428	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12992014	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17362581	0.88[MEX][hapmap]
rs1844334	1.00[ASN][1000 genomes]
rs1994546	0.85[YRI][hapmap]
rs2366912	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3769858	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.84[MKK][hapmap];0.87[TSI][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709708	0.82[MEX][hapmap]
rs6715406	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715901	1.00[ASW][hapmap];0.85[YRI][hapmap]
rs6729746	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6733291	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7561149	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7591782	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7592323	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7600330	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[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	nsv834470	chr2:179555152-179728726	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv934108	chr2:179556852-179729925	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13006510	TTN	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179646000-179684800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:179659400-179698000	Weak transcription	Primary B cells from cord blood	blood
3	chr2:179666800-179684800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:179673800-179683600	Weak transcription	HSMMtube	muscle
5	chr2:179674400-179691000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:179676400-179684400	Weak transcription	Psoas Muscle	Psoas
7	chr2:179681200-179683600	Weak transcription	Fetal Heart	heart
8	chr2:179681400-179683800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:179681400-179684800	Weak transcription	Primary T cells from cord blood	blood
10	chr2:179682200-179684400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:179682600-179683200	Enhancers	Left Ventricle	heart
12	chr2:179682600-179684400	Weak transcription	GM12878-XiMat	blood

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