Variant report

Variant	rs11035774
Chromosome Location	chr11:5145686-5145687
allele	C/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	CEBPB	chr11:5145163-5145709	K562	blood:	n/a	chr11:5145432-5145443 chr11:5145432-5145445
2	ZNF143	chr11:5145291-5145805	K562	blood:	n/a	n/a
3	CTCF	chr11:5145048-5145974	A549	lung:	n/a	chr11:5145472-5145493 chr11:5145473-5145486 chr11:5145470-5145488
4	RAD21	chr11:5145212-5145711	HepG2	liver:	n/a	chr11:5145471-5145490 chr11:5145472-5145486 chr11:5145476-5145488
5	RAD21	chr11:5145113-5145792	HCT-116	colon:	n/a	chr11:5145471-5145490 chr11:5145472-5145486 chr11:5145476-5145488
6	RAD21	chr11:5145261-5145690	ECC-1	luminal epithelium:	n/a	chr11:5145471-5145490 chr11:5145472-5145486 chr11:5145476-5145488
7	SMC3	chr11:5145221-5145706	GM12878	blood:	n/a	chr11:5145472-5145486
8	CTCF	chr11:5145235-5145761	HCT-116	colon:	n/a	chr11:5145472-5145493 chr11:5145473-5145486 chr11:5145470-5145488
9	RAD21	chr11:5145093-5145860	SK-N-SH	brain:	n/a	chr11:5145471-5145490 chr11:5145472-5145486 chr11:5145476-5145488
10	EBF1	chr11:5145082-5145696	GM12878	blood:	n/a	chr11:5145443-5145454 chr11:5145442-5145455 chr11:5145444-5145453
11	RAD21	chr11:5145176-5145869	HCT-116	colon:	n/a	chr11:5145471-5145490 chr11:5145472-5145486 chr11:5145476-5145488
12	JUND	chr11:5145273-5145731	K562	blood:	n/a	n/a
13	CTCF	chr11:5145265-5145703	A549	lung:	n/a	chr11:5145472-5145493 chr11:5145473-5145486 chr11:5145470-5145488
14	RAD21	chr11:5145214-5145691	H1-hESC	embryonic stem cell:	n/a	chr11:5145471-5145490 chr11:5145472-5145486 chr11:5145476-5145488
15	SMC3	chr11:5145135-5145735	Hela-S3	cervix:	n/a	chr11:5145472-5145486
16	CTCF	chr11:5144093-5145959	SK-N-SH	brain:	n/a	chr11:5145472-5145493 chr11:5145473-5145486 chr11:5145470-5145488
17	TFAP2C	chr11:5145179-5145721	Hela-S3	cervix:	n/a	chr11:5145442-5145457
18	TFAP2A	chr11:5145280-5145721	Hela-S3	cervix:	n/a	chr11:5145380-5145394 chr11:5145440-5145455 chr11:5145380-5145394
19	ARID3A	chr11:5145337-5145816	K562	blood:	n/a	n/a
20	ZNF143	chr11:5145296-5145727	GM12878	blood:	n/a	n/a
21	TBP	chr11:5145417-5145701	K562	blood:	n/a	n/a
22	RAD21	chr11:5145181-5145762	MCF-7	breast:	n/a	chr11:5145471-5145490 chr11:5145472-5145486 chr11:5145476-5145488
23	RCOR1	chr11:5145405-5145732	K562	blood:	n/a	n/a
24	MYC	chr11:5145267-5145688	K562	blood:	n/a	n/a
25	CTCF	chr11:5145216-5145727	IMR90	lung:	n/a	chr11:5145472-5145493 chr11:5145473-5145486 chr11:5145470-5145488
26	CTCF	chr11:5145250-5145708	K562	blood:	n/a	chr11:5145472-5145493 chr11:5145473-5145486 chr11:5145470-5145488
27	MAZ	chr11:5145198-5145871	IMR90	lung:	n/a	n/a
28	RAD21	chr11:5145247-5145693	ECC-1	luminal epithelium:	n/a	chr11:5145471-5145490 chr11:5145472-5145486 chr11:5145476-5145488
29	RAD21	chr11:5145289-5145705	K562	blood:	n/a	chr11:5145471-5145490 chr11:5145472-5145486 chr11:5145476-5145488
30	CUX1	chr11:5145146-5145751	K562	blood:	n/a	n/a
31	EP300	chr11:5145237-5145737	K562	blood:	n/a	n/a
32	RAD21	chr11:5145267-5145771	H1-hESC	embryonic stem cell:	n/a	chr11:5145471-5145490 chr11:5145472-5145486 chr11:5145476-5145488
33	CTCF	chr11:5145244-5145708	GM12878	blood:	n/a	chr11:5145472-5145493 chr11:5145473-5145486 chr11:5145470-5145488
34	RAD21	chr11:5145253-5145716	Hela-S3	cervix:	n/a	chr11:5145471-5145490 chr11:5145472-5145486 chr11:5145476-5145488
35	EBF1	chr11:5145080-5145833	GM12878	blood:	n/a	chr11:5145443-5145454 chr11:5145442-5145455 chr11:5145444-5145453
36	CTCF	chr11:5145310-5145710	MCF-7	breast:	n/a	chr11:5145472-5145493 chr11:5145473-5145486 chr11:5145470-5145488
37	TAL1	chr11:5145395-5145752	K562	blood:	n/a	n/a
38	CTCF	chr11:5145152-5145725	HCT-116	colon:	n/a	chr11:5145472-5145493 chr11:5145473-5145486 chr11:5145470-5145488
39	CTCF	chr11:5145252-5145692	MCF-7	breast:	n/a	chr11:5145472-5145493 chr11:5145473-5145486 chr11:5145470-5145488
40	RAD21	chr11:5145142-5145794	IMR90	lung:	n/a	chr11:5145471-5145490 chr11:5145472-5145486 chr11:5145476-5145488
41	CEBPB	chr11:5145160-5145706	A549	lung:	n/a	chr11:5145432-5145443 chr11:5145432-5145445
42	RAD21	chr11:5145242-5145873	A549	lung:	n/a	chr11:5145471-5145490 chr11:5145472-5145486 chr11:5145476-5145488
43	SMC3	chr11:5144996-5145914	SK-N-SH	brain:	n/a	chr11:5145472-5145486
44	RAD21	chr11:5145253-5145702	GM12878	blood:	n/a	chr11:5145471-5145490 chr11:5145472-5145486 chr11:5145476-5145488
45	TBL1XR1	chr11:5145378-5145689	K562	blood:	n/a	n/a
46	SMC3	chr11:5145240-5145818	K562	blood:	n/a	chr11:5145472-5145486
47	TBL1XR1	chr11:5145084-5145780	K562	blood:	n/a	n/a
48	RAD21	chr11:5145200-5145788	H1-hESC	embryonic stem cell:	n/a	chr11:5145471-5145490 chr11:5145472-5145486 chr11:5145476-5145488
49	UBTF	chr11:5145437-5145695	K562	blood:	n/a	n/a
50	UBTF	chr11:5145602-5145758	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5140099..5148928-chr11:5149317..5155604,15	K562	blood:

Variant related genes	Relation type
OR52A4	TF binding region
ENSG00000171944	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10500616	0.80[JPT][hapmap];0.84[ASN][1000 genomes]
rs10500617	0.81[JPT][hapmap]
rs10768545	0.84[EUR][1000 genomes]
rs10768550	0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs10768575	0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10837295	0.82[ASN][1000 genomes]
rs10837329	0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10837334	0.80[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10837335	0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11035684	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11035710	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11035736	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11035740	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11035743	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11035765	0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11530045	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12221996	0.81[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12360617	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12364567	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12420900	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1463380	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1463381	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2472527	0.81[JPT][hapmap]
rs2472530	0.81[JPT][hapmap]
rs2499947	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2499948	0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2499949	0.82[JPT][hapmap]
rs2499951	0.82[JPT][hapmap]
rs4278501	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4294557	0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4370933	0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4617575	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61880360	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7350513	0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7931931	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054847	chr11:4642875-5200656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv1046693	chr11:4958462-5177455	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv540938	chr11:4958462-5177455	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	esv2760169	chr11:4961518-5233821	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv553219	chr11:5026200-5214413	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv896920	chr11:5068137-5221825	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
7	nsv896923	chr11:5091882-5199208	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv896924	chr11:5098714-5221825	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv553222	chr11:5102476-5151516	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv553223	chr11:5116128-5149332	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv467668	chr11:5138733-5207389	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
12	nsv553224	chr11:5138733-5207389	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
13	nsv896925	chr11:5140977-5221825	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
14	nsv896926	chr11:5143309-5170510	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5144800-5146800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:5145000-5145800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:5145200-5145800	Enhancers	Osteobl	bone
4	chr11:5145200-5146000	Flanking Active TSS	K562	blood

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