Variant report

Variant	rs373362
Chromosome Location	chr5:111702875-111702876
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:172)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:172 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:111702820-111702970	HEEpiC	esophagus:	n/a	n/a
2	CEBPB	chr5:111702652-111703142	MCF-7	breast:	n/a	chr5:111702932-111702943 chr5:111702932-111702945
3	CTCF	chr5:111702800-111702950	SAEC	small airway:	n/a	n/a
4	CTCF	chr5:111702760-111702910	HVMF	connective:	n/a	n/a
5	CTCF	chr5:111702780-111702930	HA-sp	spinal cord:	n/a	n/a
6	CEBPB	chr5:111702747-111703086	HepG2	liver:	n/a	chr5:111702932-111702943 chr5:111702932-111702945
7	CTCF	chr5:111702740-111702990	AG04450	lung:	n/a	n/a
8	ZNF143	chr5:111702720-111703014	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr5:111702820-111702970	GM12878	blood:	n/a	n/a
10	CTCF	chr5:111702793-111702973	GM12878	blood:	n/a	n/a
11	CTCF	chr5:111702740-111702890	HEK293	kidney:	n/a	n/a
12	CTCF	chr5:111702800-111702950	HRPEpiC	eye:	n/a	n/a
13	CTCF	chr5:111702800-111702950	HBMEC	blood vessel:	n/a	n/a
14	CTCF	chr5:111702820-111702970	HFF	foreskin:	n/a	n/a
15	RAD21	chr5:111702714-111703028	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr5:111702834-111702936	GM10266	blood:	n/a	n/a
17	RAD21	chr5:111702572-111703054	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr5:111702820-111702970	MCF-7	breast:	n/a	n/a
19	CTCF	chr5:111702780-111702930	RPTEC	kidney:	n/a	n/a
20	CTCF	chr5:111702820-111702970	HPF	lung:	n/a	n/a
21	CTCF	chr5:111702709-111702992	K562	blood:	n/a	n/a
22	CTCF	chr5:111702780-111702930	MCF-7	breast:	n/a	n/a
23	MAZ	chr5:111702821-111703033	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr5:111702780-111702930	SAEC	small airway:	n/a	n/a
25	CTCF	chr5:111702780-111702930	GM12872	blood:	n/a	n/a
26	CTCF	chr5:111702708-111703027	K562	blood:	n/a	n/a
27	CTCF	chr5:111702721-111702975	HepG2	liver:	n/a	n/a
28	CTCF	chr5:111702849-111702933	Pancreas_OC	pancreas:	n/a	n/a
29	CTCF	chr5:111702840-111702990	GM12870	blood:	n/a	n/a
30	RAD21	chr5:111702779-111702932	HepG2	liver:	n/a	n/a
31	CTCF	chr5:111702820-111702970	SK-N-SH_RA	brain:	n/a	n/a
32	RAD21	chr5:111702740-111702946	GM12878	blood:	n/a	n/a
33	CTCF	chr5:111702780-111702930	HMF	breast:	n/a	n/a
34	CTCF	chr5:111702820-111702970	GM12868	blood:	n/a	n/a
35	CTCF	chr5:111702820-111702970	HCT-116	colon:	n/a	n/a
36	CTCF	chr5:111702800-111702950	Caco-2	colon:	n/a	n/a
37	CTCF	chr5:111702820-111702970	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr5:111702820-111702970	AG04449	skin:	n/a	n/a
39	RAD21	chr5:111702651-111703161	ECC-1	luminal epithelium:	n/a	n/a
40	CTCF	chr5:111702800-111702950	GM12867	blood:	n/a	n/a
41	CTCF	chr5:111702840-111702990	HEEpiC	esophagus:	n/a	n/a
42	CTCF	chr5:111702860-111703010	NHLF	lung:	n/a	n/a
43	CTCF	chr5:111702760-111702910	AG09319	gingival:	n/a	n/a
44	CTCF	chr5:111702780-111702930	AG04449	skin:	n/a	n/a
45	CTCF	chr5:111702693-111702997	A549	lung:	n/a	n/a
46	RAD21	chr5:111702774-111702941	K562	blood:	n/a	n/a
47	SMC3	chr5:111702857-111702927	GM12878	blood:	n/a	n/a
48	CTCF	chr5:111702800-111702950	AG09309	skin:	n/a	n/a
49	CTCF	chr5:111702800-111702950	AoAF	blood vessel:	n/a	n/a
50	CTCF	chr5:111702820-111702970	HUVEC	blood vessel:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111545913..111546803-chr5:111702693..111703411,4	MCF-7	breast:
2	chr5:111701962..111704282-chr5:111752364..111755005,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000248350	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10038904	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs10056378	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10068536	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs10478075	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs13361927	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs173889	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs236041	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs255717	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs375309	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs379440	0.87[CEU][hapmap];0.82[AMR][1000 genomes]
rs413652	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs451904	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55858222	0.83[EUR][1000 genomes]
rs56212971	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56219213	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56281497	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56359113	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72781647	0.82[EUR][1000 genomes]
rs72781651	0.83[EUR][1000 genomes]
rs72781662	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72781672	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72781674	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72781684	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72781686	0.82[AMR][1000 genomes];0.83[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	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111685200-111707000	Weak transcription	Ovary	ovary
2	chr5:111685200-111709800	Weak transcription	Aorta	Aorta
3	chr5:111689600-111708800	Weak transcription	Esophagus	oesophagus
4	chr5:111693800-111703200	Weak transcription	Right Ventricle	heart
5	chr5:111701400-111703600	Enhancers	Fetal Heart	heart
6	chr5:111701600-111712200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:111701800-111704600	Enhancers	Right Atrium	heart
8	chr5:111701800-111704800	Enhancers	Left Ventricle	heart
9	chr5:111702600-111703400	Enhancers	Adipose Nuclei	Adipose
10	chr5:111702600-111703400	Enhancers	Spleen	Spleen
11	chr5:111702600-111703400	Enhancers	Hela-S3	cervix
12	chr5:111702600-111703400	Enhancers	K562	blood
13	chr5:111702600-111704000	Weak transcription	Lung	lung
14	chr5:111702800-111703000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:111702800-111707000	Weak transcription	Gastric	stomach

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