Variant report

Variant	rs13180304
Chromosome Location	chr5:62014895-62014896
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11740546	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1306278	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1353271	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1494722	0.86[AFR][1000 genomes]
rs251169	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs251171	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs251172	0.99[ASN][1000 genomes]
rs37763	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs37764	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4487447	0.86[AFR][1000 genomes]
rs4700018	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs923963	0.86[AFR][1000 genomes]
rs923964	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs923965	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs976345	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs977877	0.84[AMR][1000 genomes];0.95[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	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv881732	chr5:61811970-62063366	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv2763458	chr5:61852234-62157166	ZNF genes & repeats Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1022817	chr5:61853619-62149259	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv948334	chr5:61891622-62197219	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 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	chr5:62012200-62016400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr5:62012400-62015600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr5:62012400-62015800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:62013600-62015400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr5:62013600-62016000	Weak transcription	Fetal Heart	heart
6	chr5:62013800-62015000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:62013800-62015400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:62013800-62015400	Weak transcription	Fetal Lung	lung
9	chr5:62013800-62015800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:62014200-62015400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:62014400-62015400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr5:62014400-62015800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr5:62014400-62017000	Enhancers	Fetal Kidney	kidney
14	chr5:62014600-62015400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:62014600-62016000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:62014800-62015000	Enhancers	Primary hematopoietic stem cells	blood
17	chr5:62014800-62015200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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

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