Variant report

Variant	rs17050849
Chromosome Location	chr4:131046303-131046304
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10004438	0.82[AFR][1000 genomes]
rs10012176	1.00[EUR][1000 genomes]
rs10014736	0.80[AFR][1000 genomes]
rs10032984	1.00[EUR][1000 genomes]
rs28376277	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv595415	chr4:130983605-131046911	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv595416	chr4:130998472-131834405	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2762461	chr4:131004382-131391658	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1025539	chr4:131033276-131728033	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv537253	chr4:131033276-131728033	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131032800-131052200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:131036000-131046800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr4:131044800-131047000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr4:131044800-131047200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:131045000-131046400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:131045000-131056600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:131045400-131046600	Weak transcription	Fetal Lung	lung
8	chr4:131045600-131046600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:131045600-131046600	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:131046000-131046400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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