Variant report

Variant	rs60196012
Chromosome Location	chr17:63712007-63712008
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4791112	1.00[EUR][1000 genomes]
rs73348172	1.00[EUR][1000 genomes]
rs8071892	1.00[EUR][1000 genomes]
rs9908471	1.00[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	nsv1060940	chr17:63559234-64433942	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv543406	chr17:63559234-64433942	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63674800-63735000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr17:63675000-63738600	Weak transcription	Psoas Muscle	Psoas
3	chr17:63695000-63719400	Weak transcription	HSMMtube	muscle
4	chr17:63695400-63716400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:63696800-63715200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr17:63701400-63726000	Weak transcription	Left Ventricle	heart
7	chr17:63707400-63719600	Weak transcription	HSMM	muscle
8	chr17:63709000-63720000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr17:63709200-63713400	Weak transcription	HepG2	liver
10	chr17:63709200-63716200	Weak transcription	Right Ventricle	heart
11	chr17:63709200-63719400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr17:63709400-63715800	Weak transcription	Placenta	Placenta
13	chr17:63709400-63719000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr17:63709400-63738600	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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