Variant report

Variant	rs2112347
Chromosome Location	chr5:75015242-75015243
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10057967	0.92[CEU][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16872768	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2307111	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34358	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs34359	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs34360	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs34361	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs3797580	0.91[CEU][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs40060	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs42302	0.80[EUR][1000 genomes]
rs4704230	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66787104	0.82[AFR][1000 genomes]
rs6864091	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6874626	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6881648	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs888789	0.85[JPT][hapmap];0.90[YRI][hapmap];0.84[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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv830353	chr5:74961520-75152609	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

Variant related diseases (count:2)

Disease	PMID	Source
Obesity	23563607	GWAS catalog
Body mass index	20935630	GWAS catalog

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75013400-75024800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:75013800-75016400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr5:75013800-75016400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr5:75013800-75016600	Weak transcription	Liver	Liver
5	chr5:75013800-75018800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr5:75014000-75015600	Enhancers	K562	blood
7	chr5:75014000-75016400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr5:75014600-75015600	Weak transcription	HepG2	liver

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