Variant report

Variant	esv3523226
Chromosome Location	chr11:58456322-58462676
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	FOS	chr11:58456275-58456778	MCF10A-Er-Src	breast:	n/a	chr11:58456440-58456450 chr11:58456440-58456450 chr11:58456440-58456450 chr11:58456441-58456449 chr11:58456440-58456450
2	FOS	chr11:58456320-58456656	MCF10A-Er-Src	breast:	n/a	chr11:58456440-58456450 chr11:58456440-58456450 chr11:58456440-58456450 chr11:58456441-58456449 chr11:58456440-58456450
3	FOS	chr11:58456247-58456876	MCF10A-Er-Src	breast:	n/a	chr11:58456440-58456450 chr11:58456440-58456450 chr11:58456440-58456450 chr11:58456441-58456449 chr11:58456440-58456450
4	FOS	chr11:58456258-58456841	MCF10A-Er-Src	breast:	n/a	chr11:58456440-58456450 chr11:58456440-58456450 chr11:58456440-58456450 chr11:58456441-58456449 chr11:58456440-58456450
5	MYC	chr11:58456392-58456675	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr11:58456276-58456642	MCF10A-Er-Src	breast:	n/a	n/a
7	NRF1	chr11:58459077-58459080	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:58461923-58462057	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:58456332-58456428	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr11:58456366-58456531	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:58459202-58459555	HL-60	blood:	n/a	n/a
12	POLR2A	chr11:58456372-58456873	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr11:58456283-58456876	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr11:58459138-58459632	HL-60	blood:	n/a	n/a
15	STAT3	chr11:58456325-58456677	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr11:58456356-58456817	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr11:58456359-58456766	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:58455564..58457856-chr11:58460321..58462093,2	K562	blood:
2	chr11:58455564..58457856-chr11:58460321..58462093,2	K562	blood:

Variant related genes	Relation type
ENSG00000197254	TF binding region

Extended variants
information (count: 211 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:211 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185023825	chr11:58456342-58456343	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs115590684	chr11:58456365-58456366	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs189058660	chr11:58456411-58456412	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs530114316	chr11:58456439-58456440	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs548642144	chr11:58456454-58456455	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs570035186	chr11:58456510-58456511	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs374503364	chr11:58456517-58456518	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs531062572	chr11:58456555-58456556	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs138388907	chr11:58456636-58456637	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs373885708	chr11:58456651-58456652	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs570642628	chr11:58456668-58456669	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs180965834	chr11:58456714-58456715	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs552854775	chr11:58456759-58456760	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs572951362	chr11:58456823-58456824	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs568063421	chr11:58456841-58456842	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs535075626	chr11:58456919-58456920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147135336	chr11:58456990-58456991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186185950	chr11:58457001-58457002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556952897	chr11:58457034-58457035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538486761	chr11:58457081-58457082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs80269968	chr11:58457110-58457111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191427365	chr11:58457111-58457112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558841311	chr11:58457153-58457154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558704361	chr11:58457167-58457168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577514319	chr11:58457170-58457171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578068598	chr11:58457195-58457196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143384284	chr11:58457206-58457207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529774237	chr11:58457271-58457272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117233614	chr11:58457315-58457316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147990411	chr11:58457319-58457320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575243982	chr11:58457366-58457367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542221641	chr11:58457369-58457370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563724459	chr11:58457453-58457454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200987501	chr11:58457495-58457496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200833340	chr11:58457496-58457497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552650615	chr11:58457501-58457502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564081266	chr11:58457511-58457512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141624759	chr11:58457532-58457533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528269194	chr11:58457563-58457564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574040493	chr11:58457587-58457588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546433236	chr11:58457595-58457596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147179044	chr11:58457599-58457600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543356937	chr11:58457632-58457633	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560058815	chr11:58457638-58457639	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535379853	chr11:58457662-58457663	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550269913	chr11:58457684-58457685	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369444324	chr11:58457730-58457731	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376099922	chr11:58457752-58457753	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72925717	chr11:58457753-58457754	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557829775	chr11:58457772-58457773	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58454200-58457400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr11:58454400-58456400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:58455200-58458400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:58455800-58457600	Enhancers	HMEC	breast
5	chr11:58456000-58457200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr11:58456000-58457600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:58456000-58457600	Enhancers	NHEK	skin
8	chr11:58456200-58457400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:58456200-58457400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:58456200-58457800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:58456400-58459400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:58457200-58461600	Enhancers	Primary hematopoietic stem cells	blood
13	chr11:58457400-58457600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr11:58457600-58457800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr11:58457800-58461200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr11:58458400-58459600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:58459200-58459800	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr11:58459400-58460000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:58459600-58460000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:58460000-58460400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:58460000-58462000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:58460400-58460800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:58460800-58462200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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