Variant report

Variant	rs2074413
Chromosome Location	chr7:112004152-112004153
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10269050	0.86[JPT][hapmap]
rs17492961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040729	0.88[CEU][hapmap]
rs62473159	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947391	1.00[JPT][hapmap]
rs6972306	0.90[JPT][hapmap]
rs7790943	1.00[JPT][hapmap]

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	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
3	nsv1020212	chr7:111944370-112032596	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111983800-112004600	Weak transcription	Pancreas	Pancrea
2	chr7:111998600-112006600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr7:111999600-112010800	Weak transcription	Right Atrium	heart
4	chr7:112001000-112007000	Weak transcription	Aorta	Aorta
5	chr7:112001800-112004600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:112002000-112004400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:112002000-112004600	Enhancers	Fetal Lung	lung
8	chr7:112002600-112004200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr7:112002800-112006800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr7:112003000-112004200	Weak transcription	Fetal Brain Female	brain
11	chr7:112003000-112004200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:112003000-112006000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:112003400-112005200	Enhancers	HepG2	liver
14	chr7:112004000-112004400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:112004000-112004800	Enhancers	Lung	lung

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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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