Variant report

Variant	rs71628393
Chromosome Location	chr1:165791415-165791416
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10800153	0.83[ASN][1000 genomes]
rs10800155	0.83[ASN][1000 genomes]
rs12133745	0.83[ASN][1000 genomes]
rs12691499	0.83[ASN][1000 genomes]
rs12691500	0.83[ASN][1000 genomes]
rs2790049	0.83[ASN][1000 genomes]
rs2790052	0.83[ASN][1000 genomes]
rs2790053	0.83[ASN][1000 genomes]
rs2814463	1.00[ASN][1000 genomes]
rs2814471	0.83[ASN][1000 genomes]
rs4233408	0.83[ASN][1000 genomes]
rs4537525	0.83[ASN][1000 genomes]
rs4603103	0.83[ASN][1000 genomes]
rs4656461	0.83[ASN][1000 genomes]
rs4657475	0.83[ASN][1000 genomes]
rs4657476	0.83[ASN][1000 genomes]
rs4657477	0.83[ASN][1000 genomes]
rs6660601	0.83[ASN][1000 genomes]
rs6662839	0.83[ASN][1000 genomes]
rs6668108	0.83[ASN][1000 genomes]
rs6696454	0.83[ASN][1000 genomes]
rs7518099	0.83[ASN][1000 genomes]
rs7555523	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv517792	chr1:165785503-165811729	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
4	esv2830094	chr1:165785503-165840411	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs71628393	TMCO1	cis	brain	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165787600-165792800	Weak transcription	K562	blood
2	chr1:165790200-165791800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:165790800-165791600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:165790800-165796200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:165790800-165796200	Weak transcription	Right Atrium	heart
6	chr1:165790800-165796800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links