Variant report

Variant	rs2591792
Chromosome Location	chr5:62075116-62075117
allele	A/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	CTCF	chr5:62074735-62075127	HCT-116	colon:	n/a	chr5:62074961-62074979 chr5:62074962-62074978 chr5:62074956-62074977
2	RAD21	chr5:62074740-62075149	GM12878	blood:	n/a	chr5:62074959-62074978
3	RAD21	chr5:62074640-62075222	MCF-7	breast:	n/a	chr5:62074959-62074978
4	CTCF	chr5:62074690-62075186	MCF-7	breast:	n/a	chr5:62074961-62074979 chr5:62074962-62074978 chr5:62074956-62074977
5	CTCF	chr5:62074770-62075136	H1-hESC	embryonic stem cell:	n/a	chr5:62074961-62074979 chr5:62074962-62074978 chr5:62074956-62074977
6	CTCF	chr5:62074466-62075636	SK-N-SH	brain:	n/a	chr5:62074961-62074979 chr5:62074962-62074978 chr5:62074956-62074977
7	RAD21	chr5:62074304-62075464	SK-N-SH	brain:	n/a	chr5:62074959-62074978
8	CTCF	chr5:62074563-62075333	A549	lung:	n/a	chr5:62074961-62074979 chr5:62074962-62074978 chr5:62074956-62074977
9	CTCF	chr5:62074765-62075309	K562	blood:	n/a	chr5:62074961-62074979 chr5:62074962-62074978 chr5:62074956-62074977
10	RAD21	chr5:62074672-62075237	HepG2	liver:	n/a	chr5:62074959-62074978
11	CTCF	chr5:62074820-62075120	Medullo	brain:	n/a	chr5:62074961-62074979 chr5:62074962-62074978 chr5:62074956-62074977
12	RAD21	chr5:62074613-62075155	IMR90	lung:	n/a	chr5:62074959-62074978
13	TEAD4	chr5:62074711-62075220	H1-hESC	embryonic stem cell:	n/a	n/a
14	SMC3	chr5:62074483-62075740	SK-N-SH	brain:	n/a	n/a
15	RAD21	chr5:62074692-62075145	MCF-7	breast:	n/a	chr5:62074959-62074978
16	RAD21	chr5:62074734-62075124	ECC-1	luminal epithelium:	n/a	chr5:62074959-62074978
17	RAD21	chr5:62074782-62075140	A549	lung:	n/a	chr5:62074959-62074978
18	RAD21	chr5:62074614-62075296	HCT-116	colon:	n/a	chr5:62074959-62074978
19	CTCF	chr5:62074980-62075130	A549	lung:	n/a	n/a
20	CTCF	chr5:62074845-62075126	Spleen_OC	spleen:	n/a	chr5:62074961-62074979 chr5:62074962-62074978 chr5:62074956-62074977
21	RAD21	chr5:62074611-62075152	Hela-S3	cervix:	n/a	chr5:62074959-62074978
22	SMC3	chr5:62074812-62075132	K562	blood:	n/a	n/a
23	ZC3H11A	chr5:62074868-62075417	K562	blood:	n/a	n/a
24	RAD21	chr5:62074498-62075138	H1-hESC	embryonic stem cell:	n/a	chr5:62074959-62074978
25	CTCF	chr5:62074824-62075119	HUVEC	blood vessel:	n/a	chr5:62074961-62074979 chr5:62074962-62074978 chr5:62074956-62074977
26	RFX5	chr5:62074799-62075131	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr5:62074540-62075356	GM12878	blood:	n/a	chr5:62074961-62074979 chr5:62074962-62074978 chr5:62074956-62074977
28	CTCF	chr5:62074794-62075131	A549	lung:	n/a	chr5:62074961-62074979 chr5:62074962-62074978 chr5:62074956-62074977
29	RAD21	chr5:62074688-62075279	HCT-116	colon:	n/a	chr5:62074959-62074978
30	ZNF384	chr5:62074758-62075193	GM12878	blood:	n/a	n/a
31	TEAD4	chr5:62074701-62075237	ECC-1	luminal epithelium:	n/a	n/a
32	ZNF143	chr5:62074815-62075301	K562	blood:	n/a	n/a
33	ZNF143	chr5:62074800-62075146	GM12878	blood:	n/a	n/a
34	ZNF384	chr5:62074821-62075145	K562	blood:	n/a	n/a
35	SMC3	chr5:62074338-62075162	GM12878	blood:	n/a	n/a
36	RAD21	chr5:62074700-62075239	ECC-1	luminal epithelium:	n/a	chr5:62074959-62074978
37	CTCF	chr5:62074794-62075133	A549	lung:	n/a	chr5:62074961-62074979 chr5:62074962-62074978 chr5:62074956-62074977
38	SMC3	chr5:62074751-62075153	Hela-S3	cervix:	n/a	n/a
39	RAD21	chr5:62074644-62075153	HepG2	liver:	n/a	chr5:62074959-62074978
40	RAD21	chr5:62074716-62075239	A549	lung:	n/a	chr5:62074959-62074978
41	RAD21	chr5:62074653-62075169	SK-N-SH_RA	brain:	n/a	chr5:62074959-62074978
42	RAD21	chr5:62074633-62075214	A549	lung:	n/a	chr5:62074959-62074978
43	CTCF	chr5:62074608-62075295	HCT-116	colon:	n/a	chr5:62074961-62074979 chr5:62074962-62074978 chr5:62074956-62074977
44	RAD21	chr5:62074802-62075130	K562	blood:	n/a	chr5:62074959-62074978
45	RAD21	chr5:62074263-62075154	H1-hESC	embryonic stem cell:	n/a	chr5:62074959-62074978
46	CTCF	chr5:62074741-62075197	IMR90	lung:	n/a	chr5:62074961-62074979 chr5:62074962-62074978 chr5:62074956-62074977
47	FOS	chr5:62074915-62075136	MCF10A-Er-Src	breast:	n/a	n/a
48	SMC3	chr5:62074764-62075153	HepG2	liver:	n/a	n/a
49	CTCF	chr5:62074699-62075217	A549	lung:	n/a	chr5:62074961-62074979 chr5:62074962-62074978 chr5:62074956-62074977

No.	Distal block	Cell Line	Cell type
1	chr5:61756022..61757748-chr5:62074424..62075807,9	MCF-7	breast:
2	chr5:62071591..62073108-chr5:62074194..62077077,2	K562	blood:
3	chr5:62068406..62072262-chr5:62073628..62078748,5	K562	blood:
4	chr5:61756416..61757318-chr5:62074341..62075268,4	K562	blood:

Variant related genes	Relation type
ISCA1P1	TF binding region
ENSG00000217416	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1348714	0.87[ASN][1000 genomes]
rs173689	0.87[ASN][1000 genomes]
rs1845526	0.89[EUR][1000 genomes]
rs2591790	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2591793	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2642734	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2642761	0.87[ASN][1000 genomes]
rs2642781	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1022825	chr5:62025524-62874332	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1033401	chr5:62025524-62875830	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1035049	chr5:62027995-62875830	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv2757118	chr5:62031365-62102343	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv2759346	chr5:62031365-62102343	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv10706	chr5:62039724-62105414	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	nsv881738	chr5:62039960-62110910	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv881739	chr5:62042182-62110910	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv34525	chr5:62047644-62102344	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	nsv881740	chr5:62048009-62110910	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv2752896	chr5:62073197-62846973	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:62074000-62075400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:62074400-62075400	Enhancers	Fetal Kidney	kidney
3	chr5:62074800-62075400	Enhancers	Brain Hippocampus Middle	brain
4	chr5:62075000-62077800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr5:62075000-62079000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:62075000-62079200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:62075000-62079200	Weak transcription	Monocytes-CD14+_RO01746	blood

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