Variant report

Variant	rs10039185
Chromosome Location	chr5:79603468-79603469
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	chr5:79603358-79603820	SK-N-SH	brain:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
2	RAD21	chr5:79603383-79603824	ECC-1	luminal epithelium:	n/a	chr5:79603550-79603559 chr5:79603541-79603560
3	RAD21	chr5:79603390-79603783	HepG2	liver:	n/a	chr5:79603550-79603559 chr5:79603541-79603560
4	CTCF	chr5:79603454-79603677	LNCaP	prostate:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
5	CTCF	chr5:79603461-79603650	GM13977	blood:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
6	CTCF	chr5:79603446-79603685	Lung_OC	lung:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
7	RAD21	chr5:79603454-79603615	K562	blood:	n/a	chr5:79603550-79603559 chr5:79603541-79603560
8	RAD21	chr5:79603387-79603797	ECC-1	luminal epithelium:	n/a	chr5:79603550-79603559 chr5:79603541-79603560
9	CTCF	chr5:79603428-79603719	HUVEC	blood vessel:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
10	RAD21	chr5:79603385-79603746	IMR90	lung:	n/a	chr5:79603550-79603559 chr5:79603541-79603560
11	CTCF	chr5:79603420-79603570	NHEK	skin:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
12	RAD21	chr5:79603435-79603710	GM12878	blood:	n/a	chr5:79603550-79603559 chr5:79603541-79603560
13	RAD21	chr5:79603352-79603752	H1-hESC	embryonic stem cell:	n/a	chr5:79603550-79603559 chr5:79603541-79603560
14	ZNF384	chr5:79603322-79603767	K562	blood:	n/a	n/a
15	CTCF	chr5:79603361-79603713	K562	blood:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
16	RAD21	chr5:79603376-79603725	GM12878	blood:	n/a	chr5:79603550-79603559 chr5:79603541-79603560
17	CTCF	chr5:79603349-79603735	A549	lung:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
18	CTCF	chr5:79603415-79603757	MCF-7	breast:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
19	RAD21	chr5:79603389-79603737	SK-N-SH_RA	brain:	n/a	chr5:79603550-79603559 chr5:79603541-79603560
20	SMC3	chr5:79603402-79603922	SK-N-SH	brain:	n/a	chr5:79603545-79603559 chr5:79603551-79603559
21	RAD21	chr5:79603450-79603754	MCF-7	breast:	n/a	chr5:79603550-79603559 chr5:79603541-79603560
22	RAD21	chr5:79603398-79603739	A549	lung:	n/a	chr5:79603550-79603559 chr5:79603541-79603560
23	CTCF	chr5:79603389-79603714	A549	lung:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
24	CTCF	chr5:79603460-79603610	HRE	kidney:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
25	CTCF	chr5:79603378-79603752	IMR90	lung:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
26	RAD21	chr5:79603400-79604010	SK-N-SH	brain:	n/a	chr5:79603550-79603559 chr5:79603541-79603560
27	ARID3A	chr5:79603464-79603740	HepG2	liver:	n/a	n/a
28	CTCF	chr5:79603455-79603708	SK-N-SH_RA	brain:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
29	RAD21	chr5:79603417-79603733	MCF-7	breast:	n/a	chr5:79603550-79603559 chr5:79603541-79603560
30	RAD21	chr5:79603410-79603812	HCT-116	colon:	n/a	chr5:79603550-79603559 chr5:79603541-79603560
31	CTCF	chr5:79603446-79603681	GM12878	blood:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
32	RAD21	chr5:79603426-79603623	GM12878	blood:	n/a	chr5:79603550-79603559 chr5:79603541-79603560
33	CTCF	chr5:79603440-79603590	GM12864	blood:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
34	CTCF	chr5:79603448-79603641	MCF-7	breast:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
35	CTCF	chr5:79603440-79603590	GM12867	blood:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
36	SMC3	chr5:79603350-79603769	Hela-S3	cervix:	n/a	chr5:79603545-79603559 chr5:79603551-79603559
37	CTCF	chr5:79603377-79603746	K562	blood:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
38	SMC3	chr5:79603380-79603749	GM12878	blood:	n/a	chr5:79603545-79603559 chr5:79603551-79603559
39	CTCF	chr5:79603373-79603763	GM12878	blood:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
40	RAD21	chr5:79603422-79603819	A549	lung:	n/a	chr5:79603550-79603559 chr5:79603541-79603560
41	SMC3	chr5:79603388-79603743	K562	blood:	n/a	chr5:79603545-79603559 chr5:79603551-79603559
42	CTCF	chr5:79603414-79603665	ECC-1	luminal epithelium:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
43	CTCF	chr5:79603417-79603748	HepG2	liver:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
44	CTCF	chr5:79603460-79603610	Hela-S3	cervix:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
45	RAD21	chr5:79603361-79603741	H1-hESC	embryonic stem cell:	n/a	chr5:79603550-79603559 chr5:79603541-79603560
46	RAD21	chr5:79603422-79603720	K562	blood:	n/a	chr5:79603550-79603559 chr5:79603541-79603560
47	CTCF	chr5:79603453-79603674	K562	blood:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
48	CTCF	chr5:79603452-79603691	Medullo	brain:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
49	RAD21	chr5:79603343-79603845	Hela-S3	cervix:	n/a	chr5:79603550-79603559 chr5:79603541-79603560
50	CTCF	chr5:79603401-79603737	A549	lung:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561

No.	Distal block	Cell Line	Cell type
1	chr5:79387676..79388570-chr5:79603076..79603754,4	MCF-7	breast:
2	chr5:79387918..79390143-chr5:79603120..79605214,2	MCF-7	breast:
3	chr5:79387254..79388326-chr5:79602600..79603634,8	K562	blood:

Variant related genes	Relation type
ENSG00000184188	TF binding region
ENSG00000251828	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10038246	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10060692	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10064457	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12516006	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72763509	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv518480	chr5:79586085-79748382	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv980690	chr5:79591958-79614381	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 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	chr5:79598800-79605400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:79603000-79603800	Active TSS	A549	lung
3	chr5:79603200-79603600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr5:79603200-79603600	Active TSS	Placenta	Placenta
5	chr5:79603200-79603600	Active TSS	HSMM	muscle
6	chr5:79603200-79603800	Active TSS	HepG2	liver
7	chr5:79603400-79603800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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