Variant report

Variant	esv3498988
Chromosome Location	chr11:104547556-104556135
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	chr11:104550013-104550355	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr11:104547895-104547994	GM20000	blood:	n/a	n/a
3	CTCF	chr11:104547879-104547973	Spleen_OC	spleen:	n/a	n/a
4	CTCF	chr11:104547875-104547876	Spleen_OC	spleen:	n/a	n/a
5	E2F4	chr11:104554232-104554322	MCF10A-Er-Src	breast:	n/a	n/a
6	E2F4	chr11:104550570-104550727	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr11:104549118-104549429	HUVEC	blood vessel:	n/a	chr11:104549278-104549289 chr11:104549212-104549224
8	FOS	chr11:104549218-104549324	MCF10A-Er-Src	breast:	n/a	chr11:104549278-104549289
9	MAFK	chr11:104556044-104556207	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:104550944-104551008	MCF10A-Er-Src	breast:	n/a	n/a
11	RFX5	chr11:104548668-104548696	HepG2	liver:	n/a	n/a
12	SETDB1	chr11:104556046-104556257	U2OS	brain:	n/a	n/a
13	SPI1	chr11:104547878-104548022	K562	blood:	n/a	n/a
14	SPI1	chr11:104547835-104548133	GM12891	blood:	n/a	n/a
15	SPI1	chr11:104547824-104548097	GM12878	blood:	n/a	n/a
16	SPI1	chr11:104547928-104548069	GM12878	blood:	n/a	n/a
17	SPI1	chr11:104547801-104548203	GM12891	blood:	n/a	n/a
18	STAT3	chr11:104549236-104549254	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr11:104555582-104555737	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000270449	TF binding region

Extended variants
information (count: 300 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192967103	chr11:104547599-104547600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557485281	chr11:104547605-104547606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371621750	chr11:104547610-104547611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9645680	chr11:104547629-104547630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149654171	chr11:104547637-104547638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11226464	chr11:104547639-104547640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370565622	chr11:104547640-104547641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71037250	chr11:104547676-104547677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184684531	chr11:104547696-104547697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536718299	chr11:104547732-104547733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71037251	chr11:104547751-104547752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35414846	chr11:104547772-104547773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375011949	chr11:104547837-104547838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539766084	chr11:104547860-104547861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201014672	chr11:104547948-104547949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553540674	chr11:104547963-104547964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573269441	chr11:104547983-104547984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545457976	chr11:104548027-104548028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558998797	chr11:104548035-104548036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189511809	chr11:104548085-104548086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575446521	chr11:104548092-104548093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180743889	chr11:104548114-104548115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11226465	chr11:104548115-104548116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564422226	chr11:104548134-104548135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532943009	chr11:104548144-104548145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549953158	chr11:104548145-104548146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71037253	chr11:104548146-104548147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11226466	chr11:104548147-104548148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368884267	chr11:104548157-104548158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145034992	chr11:104548170-104548171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539917081	chr11:104548190-104548191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550562571	chr11:104548197-104548198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34748015	chr11:104548273-104548274	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs184726735	chr11:104548281-104548282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577954444	chr11:104548303-104548304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138823090	chr11:104548312-104548313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546255588	chr11:104548317-104548318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531210954	chr11:104548322-104548323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149343195	chr11:104548345-104548346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567834437	chr11:104548413-104548414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536476633	chr11:104548416-104548417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553493467	chr11:104548418-104548419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566927974	chr11:104548423-104548424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539135593	chr11:104548429-104548430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558964370	chr11:104548495-104548496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116462317	chr11:104548503-104548504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544478685	chr11:104548505-104548506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189169954	chr11:104548508-104548509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112083481	chr11:104548562-104548563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12271284	chr11:104548620-104548621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Melanoma	17363583	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Obesity	19966786	CNVD
Tetralogy of Fallot	22912587	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104546000-104548800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr11:104546600-104549200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:104548200-104548600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:104548800-104549200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr11:104549000-104550600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:104549000-104551400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr11:104549200-104549600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr11:104549200-104549800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:104549200-104550000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr11:104549200-104550600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr11:104549200-104551200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr11:104549200-104551200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr11:104549400-104549800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:104549400-104549800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr11:104549600-104551600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr11:104550000-104550400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:104550400-104551000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr11:104550600-104555600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:104550600-104557800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:104551000-104555400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:104551200-104555600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:104551200-104555800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:104551400-104555400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:104551600-104555600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:104555400-104556200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr11:104555400-104556200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr11:104555600-104556000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr11:104555600-104556200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr11:104555600-104556200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr11:104555800-104556200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr11:104556000-104557600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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