Variant report

Variant	rs6734005
Chromosome Location	chr2:20201458-20201459
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
MATN3	TF binding region
ENSG00000271991	Chromatin interaction
ENSG00000183891	Chromatin interaction
ENSG00000227210	Chromatin interaction
ENSG00000118965	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11674251	1.00[LWK][hapmap]
rs11679737	1.00[LWK][hapmap]
rs12474041	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12479284	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs3731661	1.00[ASW][hapmap];0.80[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[ASN][1000 genomes]
rs3731667	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3943327	0.95[ASN][1000 genomes]
rs62109407	0.89[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs62109409	0.89[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs62109410	0.84[ASN][1000 genomes]
rs62109414	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs62109422	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs62109427	0.86[AMR][1000 genomes]
rs6709349	1.00[LWK][hapmap]
rs736952	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7587014	0.82[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	nsv1006404	chr2:20167688-20216509	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1005431	chr2:20174676-20210163	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1011244	chr2:20174676-20216204	Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv932888	chr2:20199931-20202894	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20190400-20207400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:20190600-20211400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:20190800-20205000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:20190800-20208400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:20191000-20211200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:20191400-20208000	Weak transcription	A549	lung
7	chr2:20196200-20202200	Strong transcription	HepG2	liver
8	chr2:20197200-20203000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:20197600-20201600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:20200000-20206800	Weak transcription	HSMMtube	muscle
11	chr2:20200200-20211800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:20201000-20201600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:20201200-20201600	Enhancers	HMEC	breast
14	chr2:20201200-20202000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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

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