Variant report

Variant	rs572513
Chromosome Location	chr11:62521256-62521257
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	HEY1	chr11:62521037-62522165	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:62521102-62522096	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr11:62521171-62522126	A549	lung:	n/a	n/a
4	MXI1	chr11:62521243-62522037	Hela-S3	cervix:	n/a	n/a
5	RELA	chr11:62521256-62522072	GM15510	blood:	n/a	n/a
6	RFX5	chr11:62521120-62522017	Hela-S3	cervix:	n/a	chr11:62521225-62521234
7	GABPA	chr11:62521204-62521949	K562	blood:	n/a	n/a
8	POLR2A	chr11:62521224-62522209	MCF-7	breast:	n/a	n/a
9	MAX	chr11:62521139-62522038	A549	lung:	n/a	n/a
10	TAF1	chr11:62521204-62522204	H1-neurons	neurons:	n/a	n/a
11	MAZ	chr11:62521194-62522087	K562	blood:	n/a	n/a
12	ELF1	chr11:62521237-62521631	K562	blood:	n/a	chr11:62521387-62521398 chr11:62521388-62521397
13	SP4	chr11:62521235-62522088	H1-hESC	embryonic stem cell:	n/a	chr11:62521627-62521638 chr11:62521326-62521342 chr11:62521625-62521641
14	SP1	chr11:62521018-62522199	HCT-116	colon:	n/a	chr11:62521361-62521371 chr11:62521360-62521372 chr11:62521328-62521340 chr11:62521395-62521407 chr11:62521628-62521637 chr11:62521627-62521638 chr11:62521395-62521407 chr11:62521361-62521371 chr11:62521396-62521410 chr11:62521627-62521639 chr11:62521360-62521372 chr11:62521396-62521405 chr11:62521362-62521371 chr11:62521361-62521370 chr11:62521628-62521642 chr11:62521645-62521666 chr11:62521328-62521340 chr11:62521627-62521639
15	POLR2A	chr11:62521134-62522201	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr11:62521084-62522221	U87	brain:	n/a	n/a
17	POLR2A	chr11:62521253-62522151	GM12892	blood:	n/a	n/a
18	POLR2A	chr11:62520920-62522155	HUVEC	blood vessel:	n/a	n/a
19	IRF1	chr11:62521087-62522038	K562	blood:	n/a	chr11:62521326-62521340 chr11:62521625-62521639 chr11:62521393-62521407 chr11:62521358-62521372
20	POLR2A	chr11:62521128-62522198	HL-60	blood:	n/a	n/a
21	POLR2A	chr11:62521189-62522197	ProgFib	skin:	n/a	n/a
22	IRF1	chr11:62521082-62522097	K562	blood:	n/a	chr11:62521326-62521340 chr11:62521625-62521639 chr11:62521393-62521407 chr11:62521358-62521372
23	POLR2A	chr11:62521116-62522105	HL-60	blood:	n/a	n/a
24	POLR2A	chr11:62521238-62522080	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr11:62520915-62522103	U87	brain:	n/a	n/a
26	PML	chr11:62521211-62522128	K562	blood:	n/a	n/a
27	GABPA	chr11:62521107-62522047	SK-N-SH	brain:	n/a	n/a
28	STAT1	chr11:62521153-62522018	GM12878	blood:	n/a	n/a
29	NFYA	chr11:62521199-62522067	Hela-S3	cervix:	n/a	n/a
30	SIN3AK20	chr11:62521074-62522294	MCF-7	breast:	n/a	n/a
31	POLR2A	chr11:62521221-62522039	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr11:62520934-62522244	GM12878	blood:	n/a	n/a
33	CHD2	chr11:62521140-62522075	Hela-S3	cervix:	n/a	n/a
34	JUND	chr11:62521170-62522075	K562	blood:	n/a	n/a
35	TAF1	chr11:62521175-62522075	A549	lung:	n/a	n/a
36	POLR2A	chr11:62521125-62522224	MCF-7	breast:	n/a	n/a
37	MAZ	chr11:62521201-62522040	HepG2	liver:	n/a	n/a
38	SRF	chr11:62521159-62522209	MCF-7	breast:	n/a	n/a
39	SP1	chr11:62521068-62522198	HCT-116	colon:	n/a	chr11:62521361-62521371 chr11:62521360-62521372 chr11:62521328-62521340 chr11:62521395-62521407 chr11:62521628-62521637 chr11:62521627-62521638 chr11:62521395-62521407 chr11:62521361-62521371 chr11:62521396-62521410 chr11:62521627-62521639 chr11:62521360-62521372 chr11:62521396-62521405 chr11:62521362-62521371 chr11:62521361-62521370 chr11:62521628-62521642 chr11:62521645-62521666 chr11:62521328-62521340 chr11:62521627-62521639
40	SP2	chr11:62521198-62522049	K562	blood:	n/a	chr11:62521630-62521639 chr11:62521627-62521642 chr11:62521398-62521407
41	POLR2A	chr11:62521013-62522130	U87	brain:	n/a	n/a
42	POLR2A	chr11:62521219-62522111	K562	blood:	n/a	n/a
43	POLR2A	chr11:62521175-62522207	H1-neurons	neurons:	n/a	n/a
44	TCF12	chr11:62520723-62522220	A549	lung:	n/a	chr11:62521546-62521554
45	ELK1	chr11:62520787-62522054	Hela-S3	cervix:	n/a	n/a
46	SMARCB1	chr11:62520521-62522077	Hela-S3	cervix:	n/a	n/a
47	TAF1	chr11:62521232-62522132	K562	blood:	n/a	n/a
48	GABPA	chr11:62521222-62521736	H1-hESC	embryonic stem cell:	n/a	n/a
49	EGR1	chr11:62521171-62521940	K562	blood:	n/a	n/a
50	POLR2A	chr11:62521114-62522242	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:145382485..145383231-chr11:62520982..62521829,2	Hela-S3	cervix:
2	chr11:62519528..62524669-chr11:62571252..62575050,10	K562	blood:
3	chr11:62518679..62523882-chr11:62607116..62611230,13	K562	blood:
4	chr11:62518863..62523305-chr11:62619900..62623516,4	K562	blood:
5	chr11:62521144..62521902-chr16:88877702..88878633,2	Hela-S3	cervix:
6	chr11:62521245..62521889-chr13:60737724..60738538,2	Hela-S3	cervix:
7	chr11:62519655..62523029-chr11:62605463..62609291,6	MCF-7	breast:
8	chr11:62519955..62521997-chr11:62555869..62557482,2	MCF-7	breast:
9	chr11:62431538..62434176-chr11:62520179..62521939,3	MCF-7	breast:
10	chr11:62493384..62497236-chr11:62520063..62523255,11	K562	blood:
11	chr11:62521216..62523210-chr11:62647073..62650275,3	MCF-7	breast:
12	chr11:62521139..62521935-chr7:107383690..107384334,2	NB4	blood:
13	chr1:144533742..144534250-chr11:62521251..62521855,2	Hela-S3	cervix:
14	chr1:153581723..153582287-chr11:62521134..62521681,2	Hela-S3	cervix:
15	chr11:62520493..62523829-chr11:62537048..62539893,5	MCF-7	breast:
16	chr11:62520193..62523309-chr11:62537104..62540629,7	K562	blood:
17	chr11:62431324..62434159-chr11:62519081..62521987,3	K562	blood:
18	chr11:62431935..62434701-chr11:62520844..62523074,3	K562	blood:
19	chr11:62432126..62434640-chr11:62518559..62521343,5	MCF-7	breast:
20	chr11:62519883..62522902-chr11:62598213..62600903,4	K562	blood:
21	chr11:62520927..62522865-chr11:62597731..62600568,2	MCF-7	breast:
22	chr11:62519922..62523309-chr11:62537231..62541263,10	K562	blood:
23	chr11:62520888..62523141-chr11:62545604..62547952,2	MCF-7	breast:
24	chr11:62492464..62497553-chr11:62519802..62523353,13	MCF-7	breast:
25	chr11:62493462..62498807-chr11:62519015..62523330,14	K562	blood:
26	chr11:62519746..62522346-chr11:62606856..62610588,7	K562	blood:
27	chr11:62519047..62523225-chr11:62570888..62574473,7	MCF-7	breast:
28	chr11:62472417..62476831-chr11:62520357..62523886,4	MCF-7	breast:
29	chr11:62518331..62523032-chr11:62553860..62556353,4	K562	blood:
30	chr11:62491539..62497784-chr11:62516835..62523459,19	MCF-7	breast:
31	chr11:62500518..62507069-chr11:62517079..62523179,7	MCF-7	breast:
32	chr11:62521172..62521775-chr3:9438276..9438953,2	Hela-S3	cervix:
33	chr11:62519528..62525971-chr11:62571539..62574867,10	K562	blood:
34	chr11:62520365..62524255-chr11:62526885..62533181,10	K562	blood:
35	chr11:62520275..62522946-chr11:62645985..62649381,3	K562	blood:
36	chr11:62418456..62420946-chr11:62519270..62521680,2	MCF-7	breast:
37	chr11:62472130..62477497-chr11:62520063..62523778,7	MCF-7	breast:
38	chr11:62520403..62522717-chr11:63579678..63581641,2	MCF-7	breast:
39	chr11:62521247..62521770-chr7:154794371..154794993,2	Hela-S3	cervix:

Variant related genes	Relation type
ZBTB3	TF binding region
ENSG00000162227	Chromatin interaction
ENSG00000162236	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000105879	Chromatin interaction
ENSG00000168005	Chromatin interaction
ENSG00000198931	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000206573	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000139734	Chromatin interaction
ENSG00000168002	Chromatin interaction
ENSG00000157212	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000267811	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000162188	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000188643	Chromatin interaction
ENSG00000256690	Chromatin interaction
ENSG00000185085	Chromatin interaction
ENSG00000162231	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11822922	1.00[EUR][1000 genomes]
rs12273912	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1787724	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2510538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2584915	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2584917	0.85[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2730030	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2956139	1.00[EUR][1000 genomes]
rs2958240	1.00[EUR][1000 genomes]
rs4387351	1.00[TSI][hapmap]
rs481272	0.88[LWK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[EUR][1000 genomes]
rs482331	0.82[ASW][hapmap];0.83[LWK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs486451	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs489275	1.00[EUR][1000 genomes]
rs4963309	1.00[ASW][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs506132	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs507101	0.83[LWK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs514401	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs518780	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs519473	0.83[LWK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs523328	1.00[EUR][1000 genomes]
rs544573	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs560006	0.83[YRI][hapmap]
rs560618	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs561385	0.83[LWK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs56226867	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56262657	1.00[EUR][1000 genomes]
rs564587	0.82[ASW][hapmap];0.83[LWK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs573146	0.89[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57338459	1.00[EUR][1000 genomes]
rs575134	0.84[ASW][hapmap];0.89[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs577071	1.00[EUR][1000 genomes]
rs57858466	1.00[EUR][1000 genomes]
rs592337	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs595108	1.00[EUR][1000 genomes]
rs60568977	1.00[EUR][1000 genomes]
rs60668695	1.00[EUR][1000 genomes]
rs619109	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs646194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs692773	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs694678	1.00[EUR][1000 genomes]
rs73487834	1.00[EUR][1000 genomes]
rs73487878	1.00[EUR][1000 genomes]
rs73487879	1.00[EUR][1000 genomes]
rs73487880	1.00[EUR][1000 genomes]
rs73490026	1.00[EUR][1000 genomes]
rs73502133	1.00[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	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
5	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62520200-62521600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
2	chr11:62520600-62521400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr11:62520600-62521400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:62520800-62521400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:62520800-62521400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:62520800-62521400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
7	chr11:62520800-62521400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr11:62520800-62521400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr11:62520800-62521400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:62520800-62521400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr11:62520800-62521400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:62520800-62521400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr11:62520800-62521400	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr11:62520800-62521400	Flanking Active TSS	Liver	Liver
15	chr11:62520800-62521400	Flanking Active TSS	Brain Angular Gyrus	brain
16	chr11:62520800-62521400	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr11:62520800-62521400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr11:62520800-62521400	Flanking Active TSS	Brain Substantia Nigra	brain
19	chr11:62520800-62521400	Flanking Active TSS	Fetal Thymus	thymus
20	chr11:62520800-62521400	Flanking Active TSS	HepG2	liver
21	chr11:62520800-62521600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
22	chr11:62520800-62522200	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr11:62520800-62522200	Active TSS	HSMMtube	muscle
24	chr11:62520800-62522400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:62520800-62522400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:62520800-62522400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:62520800-62522400	Active TSS	HSMM	muscle
28	chr11:62520800-62522600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr11:62521000-62521400	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr11:62521000-62521400	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr11:62521000-62521400	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr11:62521000-62521400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr11:62521000-62521400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:62521000-62521400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr11:62521000-62521400	Flanking Active TSS	Fetal Muscle Leg	muscle
36	chr11:62521000-62521400	Weak transcription	Lung	lung
37	chr11:62521000-62521400	Flanking Active TSS	Dnd41	blood
38	chr11:62521000-62521400	Flanking Active TSS	NH-A	brain
39	chr11:62521000-62522000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr11:62521000-62522000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:62521000-62522200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr11:62521000-62522200	Active TSS	Aorta	Aorta
43	chr11:62521000-62522200	Active TSS	Gastric	stomach
44	chr11:62521000-62522200	Active TSS	Ovary	ovary
45	chr11:62521000-62522200	Active TSS	Right Atrium	heart
46	chr11:62521000-62522200	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr11:62521000-62522200	Active TSS	NHDF-Ad	bronchial
48	chr11:62521000-62522200	Active TSS	NHLF	lung
49	chr11:62521000-62522400	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr11:62521000-62522400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links