Variant report

Variant	rs2962973
Chromosome Location	chr5:59494221-59494222
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs719702	0.99[ASN][1000 genomes]
rs966221	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018015	chr5:58889470-59532667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv537766	chr5:58889470-59532667	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv830316	chr5:59480269-59689829	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv598262	chr5:59486768-59496175	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
6	esv15503	chr5:59489615-59496332	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
7	esv32579	chr5:59489668-59496177	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
8	nsv598265	chr5:59490107-59494666	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv598266	chr5:59490107-59495060	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
10	nsv598267	chr5:59490107-59495388	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
11	nsv598268	chr5:59490107-59495804	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
12	nsv598269	chr5:59490107-59496175	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
13	nsv598270	chr5:59490107-59500391	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
14	nsv598273	chr5:59490242-59495388	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
15	nsv598274	chr5:59490242-59495804	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
16	nsv598275	chr5:59490242-59496175	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
17	nsv598277	chr5:59490615-59495388	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
18	nsv598278	chr5:59490615-59496175	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
19	nsv598280	chr5:59490961-59495388	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
20	nsv598281	chr5:59490961-59496175	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
21	nsv598283	chr5:59491390-59496175	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
22	nsv598284	chr5:59491734-59496175	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
23	nsv598285	chr5:59492111-59496175	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
24	nsv598286	chr5:59492454-59496175	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
25	nsv598287	chr5:59492454-59500391	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59471600-59500800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:59492600-59494600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr5:59492600-59494800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:59493000-59494400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:59493800-59498200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:59494000-59494400	Weak transcription	Hela-S3	cervix

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