Variant report

Variant	rs152382
Chromosome Location	chr5:14141967-14141968
allele	A/T
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	chr5:14141920-14142070	AG09309	skin:	n/a	n/a
2	CTCF	chr5:14141940-14142090	HBMEC	blood vessel:	n/a	n/a
3	RAD21	chr5:14141844-14142277	HepG2	liver:	n/a	n/a
4	CTCF	chr5:14141778-14143621	A549	lung:	n/a	n/a
5	POLR2A	chr5:14141225-14159730	PANC-1	pancreas:	n/a	n/a
6	CTCF	chr5:14141967-14142127	IMR90	lung:	n/a	n/a
7	HCFC1	chr5:14141930-14143753	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr5:14141960-14142110	HMF	breast:	n/a	n/a
9	RAD21	chr5:14141937-14142201	HepG2	liver:	n/a	n/a
10	CTCF	chr5:14141960-14142110	GM12864	blood:	n/a	n/a
11	CTCF	chr5:14141927-14142307	HepG2	liver:	n/a	n/a
12	CTCF	chr5:14141960-14142110	HCPEpiC	choroid plexus:	n/a	n/a
13	POLR2A	chr5:14141799-14142102	MCF10A-Er-Src	breast:	n/a	n/a
14	CTCF	chr5:14141960-14142110	NHLF	lung:	n/a	n/a
15	POLR2A	chr5:14140723-14148015	IMR90	lung:	n/a	n/a
16	CTCF	chr5:14141960-14142110	HA-sp	spinal cord:	n/a	n/a
17	CTCF	chr5:14141860-14142010	MCF-7	breast:	n/a	n/a
18	CTCF	chr5:14141960-14142110	GM06990	blood:	n/a	n/a
19	CTCF	chr5:14141940-14142090	HPF	lung:	n/a	n/a
20	CTCF	chr5:14141880-14142030	HRPEpiC	eye:	n/a	n/a
21	CTCF	chr5:14141900-14142050	GM12864	blood:	n/a	n/a
22	POLR2A	chr5:14141915-14143700	PANC-1	pancreas:	n/a	n/a
23	CTCF	chr5:14141940-14142090	NHDF-neo	bronchial:	n/a	n/a
24	ARID3A	chr5:14141912-14142259	HepG2	liver:	n/a	n/a
25	CTCF	chr5:14141940-14142090	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr5:14141900-14142050	HepG2	liver:	n/a	n/a
27	MAZ	chr5:14141898-14146600	IMR90	lung:	n/a	chr5:14143429-14143439 chr5:14145602-14145612 chr5:14145203-14145213 chr5:14143521-14143531 chr5:14144365-14144374 chr5:14145147-14145157
28	CTCF	chr5:14141920-14142070	AG10803	skin:	n/a	n/a
29	CTCF	chr5:14141906-14142215	GM12878	blood:	n/a	n/a
30	CTCF	chr5:14141940-14142090	GM06990	blood:	n/a	n/a
31	CTCF	chr5:14141920-14142070	HVMF	connective:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:14139271..14141119-chr5:14141229..14143217,3	MCF-7	breast:
2	chr5:14141771..14143754-chr5:14229153..14231385,2	MCF-7	breast:
3	chr5:14071467..14073909-chr5:14141543..14143716,2	MCF-7	breast:

Variant related genes	Relation type
TRIO	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs149276	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs151473	0.83[EUR][1000 genomes]
rs153191	0.83[EUR][1000 genomes]
rs153192	0.83[EUR][1000 genomes]
rs153193	0.84[EUR][1000 genomes]
rs153194	0.83[EUR][1000 genomes]
rs163815	0.82[EUR][1000 genomes]
rs164008	0.84[EUR][1000 genomes]
rs32572	0.87[AMR][1000 genomes]
rs32573	0.80[AMR][1000 genomes]
rs33024	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs33025	0.81[ASN][1000 genomes]
rs33026	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432716	chr5:13779700-14184600	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv516415	chr5:13788886-14210897	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv1019196	chr5:13790760-14187503	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	esv2830407	chr5:13793627-14172298	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv1020810	chr5:13798819-14160981	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1024836	chr5:13798819-14170244	Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv1020626	chr5:13798819-14177235	Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1015479	chr5:13798819-14180804	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	esv2760949	chr5:13798819-14182550	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv1017356	chr5:13798819-14182550	Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	nsv1018474	chr5:13798819-14184599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv1024037	chr5:13798819-14185039	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
13	nsv1030787	chr5:13799381-14180804	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv1018784	chr5:13815834-14178505	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
15	nsv537672	chr5:13815834-14178505	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
16	nsv530219	chr5:13829361-14168901	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
17	nsv1027816	chr5:13847043-14172158	Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
18	nsv537673	chr5:13847043-14172158	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
19	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
20	nsv1020258	chr5:13849471-14178505	Genic enhancers Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
21	nsv537674	chr5:13849471-14178505	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
22	esv2752061	chr5:14109455-14178040	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
23	esv1799736	chr5:14136404-14145204	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
24	esv1837789	chr5:14136404-14145204	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
25	esv1836963	chr5:14138248-14144995	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
26	nsv597226	chr5:14138248-14144995	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
27	esv1793172	chr5:14138248-14145135	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
28	esv1810679	chr5:14138248-14145135	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
29	esv1822951	chr5:14138248-14145135	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
30	esv1830955	chr5:14138248-14145135	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
31	nsv597227	chr5:14138248-14145135	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
32	esv1794514	chr5:14138248-14145204	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
33	esv1843629	chr5:14138248-14145204	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
34	nsv597228	chr5:14138248-14145204	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
35	nsv511275	chr5:14138248-14151799	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14133000-14142000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:14135400-14142200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:14135600-14142600	Weak transcription	Lung	lung
4	chr5:14138000-14142400	Enhancers	Fetal Muscle Leg	muscle
5	chr5:14139400-14142400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:14139600-14142200	Weak transcription	NHDF-Ad	bronchial
7	chr5:14139600-14142400	Weak transcription	Psoas Muscle	Psoas
8	chr5:14140400-14142400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:14140600-14142000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:14140600-14142200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:14140600-14142200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr5:14140600-14142200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:14140600-14142200	Enhancers	NH-A	brain
14	chr5:14140600-14142400	Enhancers	HSMM	muscle
15	chr5:14140600-14142600	Enhancers	Fetal Heart	heart
16	chr5:14140800-14142200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:14140800-14142200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:14140800-14142200	Enhancers	A549	lung
19	chr5:14141000-14142000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr5:14141000-14142200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:14141000-14142200	Weak transcription	Adipose Nuclei	Adipose
22	chr5:14141000-14142200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr5:14141000-14142400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:14141000-14142400	Weak transcription	Left Ventricle	heart
25	chr5:14141000-14142400	Weak transcription	Right Ventricle	heart
26	chr5:14141000-14142400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr5:14141200-14142000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:14141200-14142400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:14141400-14142400	Enhancers	Osteobl	bone
30	chr5:14141600-14142000	Enhancers	HepG2	liver
31	chr5:14141600-14142200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr5:14141600-14142400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr5:14141600-14142400	Enhancers	HMEC	breast
34	chr5:14141600-14142600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:14141800-14142000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:14141800-14142000	Enhancers	HSMMtube	muscle
37	chr5:14141800-14142200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr5:14141800-14142200	Weak transcription	NHLF	lung
39	chr5:14141800-14142400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links