Variant report

Variant	rs2352478
Chromosome Location	chr7:137911594-137911595
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10268028	0.84[ASN][1000 genomes]
rs12056107	0.92[GIH][hapmap]
rs13234539	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13234577	0.84[ASN][1000 genomes]
rs13235037	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs2352477	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34610374	0.82[EUR][1000 genomes]
rs4031456	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57124783	0.90[ASN][1000 genomes]
rs6944836	0.83[ASN][1000 genomes]
rs6976623	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831152	chr7:137884311-138033117	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137905800-137914800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:137905800-137928600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:137908600-137913600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:137909400-137911800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:137909400-137912200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:137910600-137911800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr7:137910600-137911800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:137910600-137912400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:137910600-137913000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr7:137910800-137912000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:137910800-137912000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:137911000-137911600	Weak transcription	Fetal Kidney	kidney
13	chr7:137911000-137914400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr7:137911000-137916200	Weak transcription	Liver	Liver
15	chr7:137911000-137916400	Weak transcription	HepG2	liver
16	chr7:137911200-137912000	Enhancers	Fetal Brain Female	brain
17	chr7:137911200-137912200	Weak transcription	Brain Germinal Matrix	brain

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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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