Variant report

Variant	rs1532271
Chromosome Location	chr5:1859808-1859809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:122)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr5:1859726-1859828	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr5:1859677-1860127	K562	blood:	n/a	n/a
3	CTCF	chr5:1859740-1859890	GM12864	blood:	n/a	chr5:1859747-1859760
4	CTCF	chr5:1859768-1859824	Hela-S3	cervix:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:1859792-1859842	SAEC	small airway:	n/a
2	chr5:1859764-1859814	GM06990	blood:	n/a
3	chr5:1859792-1859842	HCM	heart:	n/a
4	chr5:1859792-1859842	HepG2	liver:	n/a
5	chr5:1859792-1859842	NT2-D1	testis:	n/a
6	chr5:1859764-1859814	AoSMC	blood vessel:	n/a
7	chr5:1859792-1859842	HCF	heart:	n/a
8	chr5:1859792-1859842	AG04449	skin:	fetal
9	chr5:1859792-1859842	PrEC	prostate:	n/a
10	chr5:1859792-1859842	AG09319	gingival:	n/a
11	chr5:1859764-1859814	NHBE	bronchial:	n/a
12	chr5:1859764-1859814	HAEpiC	amniotic membrane:	n/a
13	chr5:1859792-1859842	ovcar-3	ovarian:	n/a
14	chr5:1859764-1859814	AG10803	skin:	n/a
15	chr5:1859764-1859814	T-47D	breast:	n/a
16	chr5:1859764-1859814	SK-N-SH	brain:	n/a
17	chr5:1859764-1859814	Caco-2	colon:	n/a
18	chr5:1859792-1859842	NHBE	bronchial:	n/a
19	chr5:1859764-1859814	ECC-1	luminal epithelium:	n/a
20	chr5:1859764-1859814	HEK293	kidney:	embryo
21	chr5:1859792-1859842	Hela-S3	cervix:	n/a
22	chr5:1859792-1859842	AG09309	skin:	n/a
23	chr5:1859764-1859814	K562	blood:	n/a
24	chr5:1859792-1859842	Hepatocyte	liver:	n/a
25	chr5:1859792-1859842	ProgFib	skin:	n/a
26	chr5:1859764-1859814	PrEC	prostate:	n/a
27	chr5:1859764-1859814	PFSK-1	brain:	n/a
28	chr5:1859764-1859814	GM12891	blood:	n/a
29	chr5:1859792-1859842	NB4	blood:	n/a
30	chr5:1859792-1859842	Jurkat	blood:	n/a
31	chr5:1859792-1859842	AoSMC	blood vessel:	n/a
32	chr5:1859792-1859842	HRCEpiC	kidney:	n/a
33	chr5:1859792-1859842	U87	brain:	n/a
34	chr5:1859792-1859842	Caco-2	colon:	n/a
35	chr5:1859764-1859814	BE2_C	brain:	n/a
36	chr5:1859764-1859814	HCM	heart:	n/a
37	chr5:1859792-1859842	IMR90	lung:	fetal
38	chr5:1859764-1859814	HIPEpiC	eye:	n/a
39	chr5:1859764-1859814	HRPEpiC	eye:	n/a
40	chr5:1859792-1859842	SKMC	muscle:	n/a
41	chr5:1859792-1859842	HUVEC	blood vessel:	n/a
42	chr5:1859764-1859814	HRE	kidney:	n/a
43	chr5:1859764-1859814	PANC-1	pancreas:	n/a
44	chr5:1859792-1859842	T-47D	breast:	n/a
45	chr5:1859764-1859814	U87	brain:	n/a
46	chr5:1859792-1859842	CMK	blood:	n/a
47	chr5:1859764-1859814	HEEpiC	esophagus:	n/a
48	chr5:1859792-1859842	ECC-1	luminal epithelium:	n/a
49	chr5:1859792-1859842	SK-N-SH	brain:	n/a
50	chr5:1859792-1859842	HEK293	kidney:	embryo

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:1859772..1862459-chr5:1882444..1884115,2	MCF-7	breast:
2	chr5:1854699..1857021-chr5:1857076..1860064,2	MCF-7	breast:
3	chr5:1800070..1802925-chr5:1857990..1860962,2	MCF-7	breast:
4	chr5:1859280..1863274-chr5:1864834..1867333,4	K562	blood:
5	chr5:1858296..1860407-chr5:1867907..1869801,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDUFS6-10	chr5:1858523-1860004	NONHSAT100074

No data

Variant related genes	Relation type
ENSG00000250417	TF binding region
ENSG00000250417	CpG island
ENSG00000249116	Chromatin interaction
ENSG00000171421	Chromatin interaction
ENSG00000113430	Chromatin interaction
ENSG00000250417	Chromatin interaction
ENSG00000145494	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1389313	0.87[ASN][1000 genomes]
rs1684958	0.84[ASN][1000 genomes]
rs1684966	0.88[ASN][1000 genomes]
rs1684969	0.90[ASN][1000 genomes]
rs1684970	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1689712	0.84[ASN][1000 genomes]
rs1689746	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1689747	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1689751	0.93[ASN][1000 genomes]
rs2353580	0.83[ASN][1000 genomes]
rs263202	0.81[ASN][1000 genomes]
rs4975749	0.87[ASN][1000 genomes]
rs6874717	0.81[ASN][1000 genomes]
rs6887855	0.84[ASN][1000 genomes]
rs903079	0.81[ASN][1000 genomes]
rs903081	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs931510	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933805	chr5:1450724-1941619	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
3	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	nsv596891	chr5:1822326-1880891	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv880647	chr5:1822326-1880891	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv881619	chr5:1822326-1886471	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv881557	chr5:1822326-1932463	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv596892	chr5:1832240-1892759	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1019713	chr5:1833072-1884738	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv596893	chr5:1839498-1892759	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv1018082	chr5:1849721-1884738	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv881470	chr5:1850563-1892759	Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv881188	chr5:1852284-1892759	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1854000-1872800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:1856000-1862600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:1856000-1875400	Weak transcription	Right Atrium	heart
4	chr5:1858800-1860600	Weak transcription	Right Ventricle	heart
5	chr5:1859600-1864400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:1859800-1860000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell

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