Variant report

Variant	rs13271462
Chromosome Location	chr8:10574039-10574040
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:10573489-10574092	Hela-S3	cervix:	n/a	n/a
2	FOXP2	chr8:10573705-10574051	PFSK-1	brain:	n/a	n/a
3	HMGN3	chr8:10573529-10574303	K562	blood:	n/a	n/a
4	GABPA	chr8:10573565-10574047	K562	blood:	n/a	n/a
5	GATA1	chr8:10573162-10574182	K562	blood:	n/a	n/a
6	CTCF	chr8:10573920-10574070	Hela-S3	cervix:	n/a	chr8:10573938-10573951
7	BHLHE40	chr8:10573631-10574069	K562	blood:	n/a	n/a
8	TBP	chr8:10573679-10574069	K562	blood:	n/a	n/a
9	SMC3	chr8:10573592-10574040	Hela-S3	cervix:	n/a	chr8:10573941-10573951
10	CBX3	chr8:10573588-10574056	K562	blood:	n/a	n/a
11	ZKSCAN1	chr8:10573603-10574251	Hela-S3	cervix:	n/a	n/a
12	MAZ	chr8:10573623-10574068	Hela-S3	cervix:	n/a	n/a
13	CEBPD	chr8:10573534-10574123	K562	blood:	n/a	n/a
14	CTCF	chr8:10573940-10574090	HUVEC	blood vessel:	n/a	n/a
15	MAFK	chr8:10573879-10574074	K562	blood:	n/a	n/a
16	FOS	chr8:10573580-10574103	HUVEC	blood vessel:	n/a	n/a
17	MYC	chr8:10573668-10574098	HUVEC	blood vessel:	n/a	n/a
18	RCOR1	chr8:10573484-10574044	K562	blood:	n/a	n/a
19	UBTF	chr8:10573531-10574074	K562	blood:	n/a	n/a
20	NR2F2	chr8:10573570-10574056	K562	blood:	n/a	n/a
21	POLR2A	chr8:10573725-10574113	K562	blood:	n/a	n/a
22	MAX	chr8:10573640-10574095	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr8:10573293-10574260	HUVEC	blood vessel:	n/a	n/a
24	GATA2	chr8:10573542-10574117	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr8:10573443-10574214	HUVEC	blood vessel:	n/a	n/a
26	CCNT2	chr8:10573634-10574186	K562	blood:	n/a	n/a
27	JUND	chr8:10573555-10574049	K562	blood:	n/a	n/a
28	CEBPD	chr8:10573673-10574053	K562	blood:	n/a	n/a
29	POLR2A	chr8:10573120-10574096	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr8:10572779-10574300	HUVEC	blood vessel:	n/a	n/a
31	ZMIZ1	chr8:10573653-10574068	K562	blood:	n/a	n/a
32	POLR2A	chr8:10573446-10574195	HUVEC	blood vessel:	n/a	n/a
33	GABPA	chr8:10573566-10574120	K562	blood:	n/a	n/a
34	UBTF	chr8:10573466-10574166	K562	blood:	n/a	n/a
35	TEAD4	chr8:10573553-10574090	K562	blood:	n/a	n/a
36	POLR2A	chr8:10573685-10574042	K562	blood:	n/a	n/a
37	POLR2A	chr8:10573088-10574049	Hela-S3	cervix:	n/a	n/a
38	MAZ	chr8:10573497-10574164	K562	blood:	n/a	chr8:10573510-10573520
39	ELF1	chr8:10573664-10574042	K562	blood:	n/a	n/a
40	EP300	chr8:10573556-10574054	K562	blood:	n/a	n/a
41	MYC	chr8:10573662-10574091	K562	blood:	n/a	n/a
42	POLR2A	chr8:10573569-10574071	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:10572945..10574994-chr8:10579706..10582412,2	K562	blood:
2	chr8:10573494..10575019-chr8:10578805..10581206,2	K562	blood:
3	chr8:10568215..10570516-chr8:10570791..10574753,3	K562	blood:

No data

Variant related genes	Relation type
RP1L1	TF binding region
ENSG00000183638	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11993807	0.95[ASN][1000 genomes]
rs12544976	0.96[ASN][1000 genomes]
rs12547475	0.94[ASN][1000 genomes]
rs12547478	0.94[ASN][1000 genomes]
rs12679869	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13259730	0.98[ASN][1000 genomes]
rs13277080	0.94[ASN][1000 genomes]
rs13278953	0.92[ASN][1000 genomes]
rs4321966	0.89[ASN][1000 genomes]
rs4484649	0.85[ASN][1000 genomes]
rs4489291	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4493874	0.98[ASN][1000 genomes]
rs6996979	0.93[ASN][1000 genomes]
rs6998295	0.90[ASN][1000 genomes]
rs7009586	0.98[ASN][1000 genomes]
rs7018436	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7815363	0.93[ASN][1000 genomes]
rs7834573	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7844805	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1021048	chr8:10504395-10591896	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv527184	chr8:10530037-10589913	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1028266	chr8:10537081-10586112	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv1034829	chr8:10537081-10591896	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1032725	chr8:10561962-10585683	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1022582	chr8:10571218-10636162	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv539468	chr8:10571218-10636162	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10570200-10575000	Enhancers	Duodenum Mucosa	Duodenum
2	chr8:10570800-10575800	Enhancers	Lung	lung
3	chr8:10571200-10574200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr8:10572000-10583000	Weak transcription	Liver	Liver
5	chr8:10572200-10575400	Enhancers	HUVEC	blood vessel
6	chr8:10572400-10574200	Bivalent Enhancer	Adipose Nuclei	Adipose
7	chr8:10572600-10574200	Enhancers	NHEK	skin
8	chr8:10572600-10574400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:10572800-10574200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr8:10572800-10574400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:10572800-10574800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:10572800-10575600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr8:10573000-10574200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:10573000-10574400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:10573000-10574400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr8:10573000-10574400	Enhancers	Esophagus	oesophagus
17	chr8:10573200-10574200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:10573200-10574200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:10573200-10574200	Flanking Active TSS	Hela-S3	cervix
20	chr8:10573200-10574600	Bivalent Enhancer	Stomach Mucosa	stomach
21	chr8:10573200-10574800	Enhancers	K562	blood
22	chr8:10573200-10575600	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr8:10573400-10574200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr8:10573400-10574200	Bivalent Enhancer	Fetal Intestine Small	intestine
25	chr8:10573400-10574400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
26	chr8:10573400-10574600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:10573400-10574600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr8:10573400-10574800	Enhancers	Primary hematopoietic stem cells	blood
29	chr8:10573400-10575200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:10573600-10574200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr8:10573600-10574600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
32	chr8:10573600-10575000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr8:10573600-10575600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:10573800-10574800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
35	chr8:10573800-10575600	Enhancers	Left Ventricle	heart
36	chr8:10574000-10574200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:10574000-10574200	Flanking Active TSS	Spleen	Spleen
38	chr8:10574000-10574400	Bivalent Enhancer	Colonic Mucosa	Colon
39	chr8:10574000-10574400	Weak transcription	Right Atrium	heart
40	chr8:10574000-10574400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr8:10574000-10574400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
42	chr8:10574000-10574600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:10574000-10575000	Enhancers	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links