Variant report

Variant	rs67168837
Chromosome Location	chr12:29938922-29938923
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10743672	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10743673	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10743674	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10771578	0.81[AMR][1000 genomes]
rs10771579	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10771580	0.81[AMR][1000 genomes]
rs10843503	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10843504	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11050434	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12231167	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12810794	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1551930	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2164948	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2882467	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs302346	0.86[AFR][1000 genomes]
rs4244848	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4244849	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4931215	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4931216	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4931217	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4931218	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4931219	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4931220	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56703053	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7139255	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7303559	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7305311	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7312678	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7967779	0.83[AMR][1000 genomes];0.80[EUR][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	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv898953	chr12:29905322-29989292	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv826294	chr12:29934604-29940372	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs67168837	TMTC1	cis	Whole Blood	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29937200-29945400	Weak transcription	Spleen	Spleen
2	chr12:29937600-29944000	Weak transcription	Gastric	stomach
3	chr12:29937800-29941000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:29937800-29943800	Weak transcription	Fetal Kidney	kidney
5	chr12:29937800-29944000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:29937800-29944200	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links