Variant report

Variant	rs62370501
Chromosome Location	chr5:59002159-59002160
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:59002025-59002299	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
MIR582	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10045168	1.00[ASN][1000 genomes]
rs10052367	1.00[ASN][1000 genomes]
rs10052716	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10062267	1.00[ASN][1000 genomes]
rs10065233	1.00[ASN][1000 genomes]
rs10073739	1.00[ASN][1000 genomes]
rs10076914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10472114	1.00[ASN][1000 genomes]
rs11741470	1.00[ASN][1000 genomes]
rs13164391	1.00[ASN][1000 genomes]
rs13168643	1.00[ASN][1000 genomes]
rs13177163	1.00[ASN][1000 genomes]
rs13361053	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159615	1.00[ASN][1000 genomes]
rs159618	1.00[ASN][1000 genomes]
rs159621	1.00[ASN][1000 genomes]
rs159625	0.83[ASN][1000 genomes]
rs16890078	0.83[ASN][1000 genomes]
rs173944	1.00[ASN][1000 genomes]
rs194368	1.00[ASN][1000 genomes]
rs1960603	1.00[ASN][1000 genomes]
rs256349	1.00[ASN][1000 genomes]
rs256351	1.00[ASN][1000 genomes]
rs256354	1.00[ASN][1000 genomes]
rs35302677	1.00[ASN][1000 genomes]
rs56063442	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56407484	0.85[EUR][1000 genomes]
rs58802762	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61229155	1.00[ASN][1000 genomes]
rs62370463	1.00[ASN][1000 genomes]
rs62370466	1.00[ASN][1000 genomes]
rs62370490	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62370491	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62370492	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs62370494	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62370495	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62370496	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62370498	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62370499	0.85[EUR][1000 genomes]
rs62370502	0.85[EUR][1000 genomes]
rs62370504	0.85[EUR][1000 genomes]
rs62370505	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62370506	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62370529	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6865975	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7706277	1.00[ASN][1000 genomes]
rs7706573	1.00[ASN][1000 genomes]
rs7732908	1.00[ASN][1000 genomes]
rs9292212	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9292213	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031631	chr5:58783629-59015470	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv881708	chr5:58869051-59093198	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv427720	chr5:58913581-59086987	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv462190	chr5:58936943-59023870	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
7	nsv598258	chr5:58936943-59023870	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1034283	chr5:58940594-59040762	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
9	nsv537767	chr5:58940594-59040762	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
10	nsv534614	chr5:58962510-59388525	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv462191	chr5:58993297-59038610	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
12	nsv598259	chr5:58993297-59038610	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58981200-59009000	Weak transcription	Hela-S3	cervix
2	chr5:58982000-59004800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:58994800-59009000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr5:58996600-59004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:58997200-59004800	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:58999600-59002200	Enhancers	Fetal Lung	lung
7	chr5:58999800-59009000	Weak transcription	Gastric	stomach
8	chr5:59000400-59005200	Weak transcription	Fetal Stomach	stomach
9	chr5:59000800-59002200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:59000800-59008000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:59001000-59009000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:59001200-59002400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:59001200-59003600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:59001400-59003200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:59001400-59003600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:59001600-59005200	Weak transcription	Fetal Brain Male	brain
17	chr5:59001600-59005400	Weak transcription	Fetal Brain Female	brain
18	chr5:59001800-59003600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:59001800-59004000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr5:59001800-59004200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:59001800-59004200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:59001800-59005400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr5:59002000-59003600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr5:59002000-59005200	Weak transcription	A549	lung

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