Variant report

Variant	rs60962323
Chromosome Location	chr8:91695893-91695894
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs4041512	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60218186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61479670	0.83[AMR][1000 genomes]
rs73692835	0.83[AMR][1000 genomes]
rs73692838	0.83[AMR][1000 genomes]
rs73694536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694538	0.83[AMR][1000 genomes]
rs73694539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694541	0.83[AMR][1000 genomes]
rs73694543	0.83[AMR][1000 genomes]
rs73694544	0.83[AMR][1000 genomes]

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	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv3326233	chr8:91690825-91708859	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3368643	chr8:91695076-91698974	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91691600-91696000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr8:91691600-91696400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr8:91691600-91696400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr8:91691600-91696400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:91692200-91698600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:91692400-91698000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:91692600-91696600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr8:91692800-91706400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:91693000-91696200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr8:91694200-91696200	Enhancers	HepG2	liver
11	chr8:91694600-91698200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:91695000-91697200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:91695000-91699600	Weak transcription	NHDF-Ad	bronchial
14	chr8:91695000-91709600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:91695600-91696000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr8:91695600-91696200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:91695800-91696200	Enhancers	A549	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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