Variant report

Variant	nsv972034
Chromosome Location	chr11:59545783-59549447
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	CEBPB	chr11:59547030-59547280	IMR90	lung:	n/a	chr11:59547141-59547154
2	CTCF	chr11:59549123-59549238	GM13977	blood:	n/a	n/a
3	CTCF	chr11:59549115-59549195	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr11:59549106-59549235	GM10266	blood:	n/a	n/a
5	CTCF	chr11:59549141-59549247	Spleen_OC	spleen:	n/a	n/a
6	EBF1	chr11:59548998-59549256	GM12878	blood:	n/a	n/a
7	EP300	chr11:59548956-59549258	GM12878	blood:	n/a	n/a
8	FOS	chr11:59547064-59547210	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr11:59547022-59547329	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr11:59547118-59547201	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr11:59547010-59547292	MCF10A-Er-Src	breast:	n/a	n/a
12	HCFC1	chr11:59547405-59547749	K562	blood:	n/a	n/a
13	HEY1	chr11:59548985-59549272	HepG2	liver:	n/a	n/a
14	HEY1	chr11:59547675-59548248	K562	blood:	n/a	n/a
15	HEY1	chr11:59549042-59549230	HepG2	liver:	n/a	n/a
16	HEY1	chr11:59548997-59549261	K562	blood:	n/a	n/a
17	MAFF	chr11:59545763-59546009	HepG2	liver:	n/a	n/a
18	MAFK	chr11:59545822-59546036	HepG2	liver:	n/a	n/a
19	MAFK	chr11:59545742-59546010	HepG2	liver:	n/a	n/a
20	MAX	chr11:59545851-59545987	HepG2	liver:	n/a	n/a
21	MYC	chr11:59547070-59547279	MCF10A-Er-Src	breast:	n/a	chr11:59547150-59547159 chr11:59547149-59547160 chr11:59547149-59547160 chr11:59547150-59547157 chr11:59547146-59547161 chr11:59547151-59547160 chr11:59547145-59547164 chr11:59547150-59547160 chr11:59547148-59547161
22	MYC	chr11:59547009-59547290	MCF10A-Er-Src	breast:	n/a	chr11:59547150-59547159 chr11:59547149-59547160 chr11:59547149-59547160 chr11:59547150-59547157 chr11:59547146-59547161 chr11:59547151-59547160 chr11:59547145-59547164 chr11:59547150-59547160 chr11:59547148-59547161
23	PAX5	chr11:59549044-59549247	GM12878	blood:	n/a	n/a
24	PBX3	chr11:59549102-59549219	GM12878	blood:	n/a	n/a
25	PBX3	chr11:59549072-59549188	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:59549059-59549253	A549	lung:	n/a	n/a
27	POLR2A	chr11:59549053-59549239	GM12891	blood:	n/a	n/a
28	POLR2A	chr11:59549048-59549233	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:59548834-59549527	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr11:59549053-59549231	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:59549010-59549257	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr11:59548824-59549257	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:59545755-59546223	HepG2	liver:	n/a	n/a
34	POLR2A	chr11:59549051-59549228	A549	lung:	n/a	n/a
35	POLR2A	chr11:59549089-59549215	A549	lung:	n/a	n/a
36	POLR2A	chr11:59548901-59549311	SK-N-MC	brain:	n/a	n/a
37	POLR2A	chr11:59549105-59549255	HepG2	liver:	n/a	n/a
38	POLR2A	chr11:59548937-59549283	GM12891	blood:	n/a	n/a
39	POLR2A	chr11:59548872-59549283	GM12892	blood:	n/a	n/a
40	POLR2A	chr11:59549024-59549258	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr11:59549087-59549223	HepG2	liver:	n/a	n/a
42	POLR2A	chr11:59548690-59549340	GM12892	blood:	n/a	n/a
43	POLR2A	chr11:59548865-59549307	GM12892	blood:	n/a	n/a
44	POLR2A	chr11:59549044-59549239	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr11:59549094-59549229	HepG2	liver:	n/a	n/a
46	POLR2A	chr11:59549087-59549223	A549	lung:	n/a	n/a
47	POLR2A	chr11:59547692-59548257	K562	blood:	n/a	n/a
48	POLR2A	chr11:59547599-59547808	HepG2	liver:	n/a	n/a
49	POLR2A	chr11:59548966-59549258	GM12891	blood:	n/a	n/a
50	POLR2A	chr11:59549008-59549300	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:59545569..59549686-chr11:59550109..59554900,5	MCF-7	breast:
2	chr11:59521605..59525070-chr11:59543036..59549785,6	MCF-7	breast:
3	chr11:59520565..59526888-chr11:59540206..59546311,15	MCF-7	breast:
4	chr11:59544185..59546804-chr11:59574594..59577014,2	MCF-7	breast:

Variant related genes	Relation type
FABP5P7	TF binding region
ENSG00000166900	chromatin interactions
ENSG00000254477	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183023266	chr11:59545798-59545799	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs572465968	chr11:59545810-59545811	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs140459595	chr11:59545870-59545871	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs561132749	chr11:59545898-59545899	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs368452952	chr11:59545923-59545924	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs7116954	chr11:59545973-59545974	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs564705257	chr11:59545978-59545979	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs532210756	chr11:59546006-59546007	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs563235698	chr11:59546009-59546010	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs201864062	chr11:59546011-59546012	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs547071459	chr11:59546114-59546115	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs565485668	chr11:59546129-59546130	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs77069034	chr11:59546169-59546170	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs187740725	chr11:59546244-59546245	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs193255714	chr11:59546250-59546251	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs558120757	chr11:59546297-59546298	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs370194130	chr11:59546305-59546306	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs556612615	chr11:59546307-59546308	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs386373902	chr11:59546323-59546324	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs377269980	chr11:59546337-59546338	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs571847224	chr11:59546381-59546382	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs539286337	chr11:59546413-59546414	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs376499983	chr11:59546431-59546432	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs554295547	chr11:59546463-59546464	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs184136675	chr11:59546544-59546545	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs542756844	chr11:59546555-59546556	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs150481558	chr11:59546603-59546604	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs372446973	chr11:59546625-59546626	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs71486460	chr11:59546684-59546685	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs112766709	chr11:59546686-59546687	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs12274098	chr11:59546691-59546692	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs542692407	chr11:59546693-59546694	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs187925165	chr11:59546738-59546739	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs532174940	chr11:59546749-59546750	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs577917331	chr11:59546782-59546783	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs77756205	chr11:59546843-59546844	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs559132208	chr11:59546855-59546856	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs529748586	chr11:59546915-59546916	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs141327647	chr11:59546985-59546986	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs192613751	chr11:59546986-59546987	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs559467020	chr11:59546990-59546991	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs184081857	chr11:59547036-59547037	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs145110736	chr11:59547069-59547070	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs550492418	chr11:59547081-59547082	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs80183649	chr11:59547100-59547101	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs137921202	chr11:59547105-59547106	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs368071481	chr11:59547114-59547115	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs547962154	chr11:59547158-59547159	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs566161982	chr11:59547215-59547216	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs76111334	chr11:59547270-59547271	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:215 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59524400-59557000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:59524600-59557400	Weak transcription	Colon Smooth Muscle	Colon
3	chr11:59524600-59573800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:59524800-59553400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:59524800-59555400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:59525400-59551200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:59525600-59557800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:59534400-59559600	Weak transcription	Fetal Brain Female	brain
9	chr11:59534600-59554200	Weak transcription	HSMMtube	muscle
10	chr11:59534600-59571600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:59535800-59545800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr11:59537600-59570400	Weak transcription	Fetal Kidney	kidney
13	chr11:59537800-59553200	Weak transcription	NHDF-Ad	bronchial
14	chr11:59539400-59546600	Weak transcription	Esophagus	oesophagus
15	chr11:59539600-59554200	Weak transcription	Right Ventricle	heart
16	chr11:59539800-59553000	Weak transcription	Spleen	Spleen
17	chr11:59539800-59554400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:59540600-59546200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:59540800-59550400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:59540800-59556200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr11:59540800-59559600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:59541000-59560000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:59541000-59573600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr11:59541400-59553000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr11:59541600-59546200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
26	chr11:59541600-59551800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr11:59541800-59548200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:59541800-59559200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr11:59542200-59546200	Strong transcription	Ovary	ovary
30	chr11:59542200-59571400	Weak transcription	Thymus	Thymus
31	chr11:59542400-59547600	Genic enhancers	Fetal Intestine Small	intestine
32	chr11:59542600-59554200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:59542800-59545800	Genic enhancers	Rectal Mucosa Donor 31	rectum
34	chr11:59542800-59547800	Enhancers	Stomach Mucosa	stomach
35	chr11:59542800-59557800	Weak transcription	Fetal Stomach	stomach
36	chr11:59543000-59546000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:59543000-59553000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:59543000-59553400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr11:59543000-59554200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:59543200-59547200	Weak transcription	Osteobl	bone
41	chr11:59543200-59551200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:59543200-59554200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:59543200-59554200	Weak transcription	Adipose Nuclei	Adipose
44	chr11:59543200-59554600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr11:59543200-59557000	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr11:59543200-59559200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:59543400-59549400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:59543600-59545800	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr11:59543600-59546000	Enhancers	Liver	Liver
50	chr11:59543600-59546400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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