Variant report

Variant	rs60439893
Chromosome Location	chr5:116158138-116158139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10073509	1.00[AMR][1000 genomes]
rs13361107	1.00[AMR][1000 genomes]
rs13436227	1.00[AMR][1000 genomes]
rs56987937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57431923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58373124	1.00[AMR][1000 genomes]
rs59227636	1.00[AMR][1000 genomes]
rs59854757	1.00[AMR][1000 genomes]
rs60349546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60532718	1.00[AMR][1000 genomes]
rs60742128	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73255015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257125	1.00[AMR][1000 genomes]
rs73257127	1.00[AMR][1000 genomes]
rs73273441	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830456	chr5:115969066-116170718	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv527974	chr5:115987168-116303678	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv462403	chr5:115994775-116284378	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv599485	chr5:115994775-116284378	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1030056	chr5:116008971-116278725	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1033140	chr5:116035131-116314673	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1027701	chr5:116138286-116185586	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr5:116156800-116158200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:116156800-116160600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:116157000-116158200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:116157000-116158600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:116157400-116158600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:116157400-116161400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr5:116157600-116159000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:116157600-116159600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:116157800-116158600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr5:116157800-116158600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:116157800-116158600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:116157800-116158600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:116157800-116158800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr5:116157800-116159400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr5:116158000-116158400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:116158000-116158600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:116158000-116159000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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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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