Variant report

Variant	esv3446047
Chromosome Location	chr11:36528151-36530324
allele	n/a
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	ARID3A	chr11:36530314-36530647	K562	blood:	n/a	n/a
2	CEBPB	chr11:36529639-36530072	K562	blood:	n/a	chr11:36529832-36529841 chr11:36529831-36529842
3	CEBPB	chr11:36529662-36530026	A549	lung:	n/a	chr11:36529832-36529841 chr11:36529831-36529842
4	CEBPB	chr11:36529654-36530020	Hela-S3	cervix:	n/a	chr11:36529832-36529841 chr11:36529831-36529842
5	CEBPB	chr11:36529640-36530108	K562	blood:	n/a	chr11:36529832-36529841 chr11:36529831-36529842
6	CEBPB	chr11:36529707-36529994	H1-hESC	embryonic stem cell:	n/a	chr11:36529832-36529841 chr11:36529831-36529842
7	CEBPB	chr11:36529654-36530022	HepG2	liver:	n/a	chr11:36529832-36529841 chr11:36529831-36529842
8	CEBPB	chr11:36529688-36529994	K562	blood:	n/a	chr11:36529832-36529841 chr11:36529831-36529842
9	CEBPB	chr11:36529658-36530024	IMR90	lung:	n/a	chr11:36529832-36529841 chr11:36529831-36529842
10	CEBPB	chr11:36529583-36530130	A549	lung:	n/a	chr11:36529832-36529841 chr11:36529831-36529842
11	CEBPB	chr11:36529754-36529974	A549	lung:	n/a	chr11:36529832-36529841 chr11:36529831-36529842
12	CEBPB	chr11:36529680-36529988	ECC-1	luminal epithelium:	n/a	chr11:36529832-36529841 chr11:36529831-36529842
13	HCFC1	chr11:36530167-36532549	Hela-S3	cervix:	n/a	n/a
14	IRF1	chr11:36529922-36531191	K562	blood:	n/a	chr11:36530227-36530238 chr11:36530224-36530238 chr11:36530224-36530237 chr11:36530223-36530237 chr11:36530224-36530237 chr11:36530226-36530236 chr11:36530114-36530123
15	MAZ	chr11:36530198-36532469	IMR90	lung:	n/a	n/a
16	MAZ	chr11:36530253-36532203	K562	blood:	n/a	n/a
17	MXI1	chr11:36530265-36532522	IMR90	lung:	n/a	n/a
18	MXI1	chr11:36530249-36530259	K562	blood:	n/a	n/a
19	MXI1	chr11:36529883-36529987	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:36528450-36529307	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr11:36528535-36528904	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr11:36529886-36529892	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr11:36530309-36532253	GM12891	blood:	n/a	n/a
24	POLR2A	chr11:36530266-36532314	PBDE	blood:	n/a	n/a
25	POLR2A	chr11:36530094-36531046	MCF10A-Er-Src	breast:	n/a	n/a
26	RAD21	chr11:36530191-36530473	A549	lung:	n/a	n/a
27	REST	chr11:36528648-36529008	PANC-1	pancreas:	n/a	n/a
28	SMC3	chr11:36529734-36529924	HepG2	liver:	n/a	n/a
29	STAT3	chr11:36529816-36529933	MCF10A-Er-Src	breast:	n/a	n/a
30	TBL1XR1	chr11:36529807-36529866	GM12878	blood:	n/a	n/a
31	UBTF	chr11:36529999-36530136	K562	blood:	n/a	n/a
32	USF2	chr11:36530316-36530569	Hela-S3	cervix:	n/a	n/a
33	WRNIP1	chr11:36530297-36530594	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36530300..36533244-chr11:36535692..36537195,2	MCF-7	breast:

Variant related genes	Relation type
RAG1	TF binding region
ENSG00000166349	chromatin interactions

Extended variants
information (count: 148 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537132822	chr11:36528160-36528161	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550886322	chr11:36528268-36528269	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186281055	chr11:36528309-36528310	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35334062	chr11:36528337-36528338	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs496289	chr11:36528341-36528342	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs190598819	chr11:36528343-36528344	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566528971	chr11:36528369-36528370	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566791155	chr11:36528371-36528372	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183405976	chr11:36528377-36528378	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555497927	chr11:36528380-36528381	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187780981	chr11:36528403-36528404	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374091253	chr11:36528407-36528408	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140626058	chr11:36528419-36528420	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377239914	chr11:36528422-36528423	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557809218	chr11:36528423-36528424	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533669688	chr11:36528453-36528454	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs577697963	chr11:36528533-36528534	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs142205260	chr11:36528578-36528579	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs558480502	chr11:36528612-36528613	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs190947212	chr11:36528624-36528625	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs114178037	chr11:36528625-36528626	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs183148310	chr11:36528646-36528647	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs112337995	chr11:36528656-36528657	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs116427557	chr11:36528658-36528659	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs544903313	chr11:36528661-36528662	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs139670287	chr11:36528670-36528671	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs533284233	chr11:36528674-36528675	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs10768213	chr11:36528684-36528685	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs112723905	chr11:36528695-36528696	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs566532746	chr11:36528696-36528697	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs792239	chr11:36528697-36528698	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs549260998	chr11:36528700-36528701	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs569234662	chr11:36528709-36528710	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs10768214	chr11:36528723-36528724	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs375728844	chr11:36528736-36528737	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs538415316	chr11:36528739-36528740	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs11033666	chr11:36528762-36528763	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs368683572	chr11:36528775-36528776	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs11033667	chr11:36528801-36528802	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs370526382	chr11:36528815-36528816	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs375125364	chr11:36528816-36528817	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs368499230	chr11:36528827-36528828	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs11033668	chr11:36528840-36528841	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs11033669	chr11:36528879-36528880	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs372012473	chr11:36528892-36528893	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs11033670	chr11:36528918-36528919	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs200974708	chr11:36528929-36528930	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs558083503	chr11:36528930-36528931	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs369964711	chr11:36528931-36528932	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs12574838	chr11:36528957-36528958	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
WAGR syndrome	19222835	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	21829676	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Acute lymphoblastic leukemia	19039135	CNVD

Chromatin state (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36490000-36530400	Weak transcription	Esophagus	oesophagus
2	chr11:36508800-36530400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:36512200-36530800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:36512400-36529800	Weak transcription	Colonic Mucosa	Colon
5	chr11:36513800-36529800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:36513800-36530000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:36513800-36530400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:36513800-36530400	Weak transcription	Lung	lung
9	chr11:36514000-36529600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:36514000-36530400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:36514000-36530800	Weak transcription	Small Intestine	intestine
12	chr11:36518000-36530400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:36519000-36529800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:36520200-36529600	Weak transcription	Fetal Kidney	kidney
15	chr11:36520200-36529800	Weak transcription	A549	lung
16	chr11:36522000-36529600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:36522000-36530400	Weak transcription	Gastric	stomach
18	chr11:36522200-36529600	Weak transcription	Brain Germinal Matrix	brain
19	chr11:36522200-36529800	Weak transcription	Hela-S3	cervix
20	chr11:36522200-36530000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:36522200-36530000	Weak transcription	Aorta	Aorta
22	chr11:36522200-36530000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:36522400-36529600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:36522400-36530000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:36522400-36530200	Weak transcription	Ovary	ovary
26	chr11:36522800-36528800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:36522800-36529600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:36522800-36529800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:36522800-36530400	Weak transcription	Fetal Brain Male	brain
30	chr11:36523000-36529600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr11:36523000-36529600	Weak transcription	Fetal Brain Female	brain
32	chr11:36523000-36529800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:36523000-36529800	Weak transcription	NHLF	lung
34	chr11:36523000-36530200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:36523000-36530200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr11:36523200-36529400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:36523200-36529600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:36523200-36529800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:36523200-36529800	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr11:36523200-36529800	Weak transcription	Fetal Stomach	stomach
41	chr11:36523200-36529800	Weak transcription	Thymus	Thymus
42	chr11:36523200-36529800	Weak transcription	GM12878-XiMat	blood
43	chr11:36523200-36529800	Weak transcription	HUVEC	blood vessel
44	chr11:36523200-36529800	Weak transcription	Osteobl	bone
45	chr11:36523200-36530200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr11:36523200-36530400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:36523200-36530400	Weak transcription	Placenta	Placenta
48	chr11:36523400-36529800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:36523600-36529400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:36523600-36529600	Weak transcription	Right Ventricle	heart

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