Variant report

Variant	rs314193
Chromosome Location	chr6:69807150-69807151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs314192	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs314211	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs314219	1.00[AFR][1000 genomes]
rs486051	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs628698	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs633427	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs633787	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs682128	1.00[CEU][hapmap];0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886137	chr6:69684850-70095690	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr6:69799400-69820800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:69800800-69820600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:69804800-69807400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:69805400-69808200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:69806400-69807400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:69806600-69807200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:69806600-69807200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:69806600-69807200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:69806600-69807200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:69806800-69808000	Weak transcription	Aorta	Aorta

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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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