Variant report

Variant	esv3348528
Chromosome Location	chr11:25964425-25982438
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 840 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:840 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386751837	chr11:25964440-25964441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2349602	chr11:25964442-25964443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs371753852	chr11:25964501-25964502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139825822	chr11:25964565-25964566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557072541	chr11:25964566-25964567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575330082	chr11:25964573-25964574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376990837	chr11:25964640-25964641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184599249	chr11:25964641-25964642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149661508	chr11:25964645-25964646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372223229	chr11:25964698-25964699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374628863	chr11:25964700-25964701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575247411	chr11:25964724-25964725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145532042	chr11:25964731-25964732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540892491	chr11:25964763-25964764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562222432	chr11:25964764-25964765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529747673	chr11:25964768-25964769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548205593	chr11:25964770-25964771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563376439	chr11:25964788-25964789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530580942	chr11:25964791-25964792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148848576	chr11:25964823-25964824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369992204	chr11:25964830-25964831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543176568	chr11:25964838-25964839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188964914	chr11:25964858-25964859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71447441	chr11:25964874-25964875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12282385	chr11:25964920-25964921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs191799200	chr11:25964929-25964930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535502223	chr11:25964945-25964946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556886937	chr11:25964955-25964956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575340667	chr11:25965012-25965013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540635910	chr11:25965062-25965063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs67333685	chr11:25965071-25965072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs558089757	chr11:25965076-25965077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200808040	chr11:25965100-25965101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10834857	chr11:25965123-25965124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs540453511	chr11:25965136-25965137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184593177	chr11:25965172-25965173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34296942	chr11:25965179-25965180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574338058	chr11:25965183-25965184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541856287	chr11:25965187-25965188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189817619	chr11:25965230-25965231	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs530647442	chr11:25965251-25965252	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs552280404	chr11:25965271-25965272	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs532409465	chr11:25965275-25965276	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs564013398	chr11:25965336-25965337	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs143788571	chr11:25965337-25965338	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs117043879	chr11:25965338-25965339	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs181077839	chr11:25965345-25965346	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs147719735	chr11:25965354-25965355	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs548695994	chr11:25965372-25965373	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs142493240	chr11:25965388-25965389	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
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
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
Hodgkin''s lymphoma	17606441	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
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25961000-25968000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr11:25961000-25972800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:25961200-25968200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:25961600-25972800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:25963200-25979200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:25965200-25966000	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr11:25965400-25965800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:25965400-25966000	Active TSS	Colonic Mucosa	Colon
9	chr11:25965400-25966000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr11:25965600-25966000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:25965800-25966200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:25966200-25974000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:25966400-25967400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr11:25967400-25967800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:25967400-25967800	Enhancers	Fetal Brain Male	brain
16	chr11:25967800-25968400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr11:25968000-25968800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr11:25968200-25968400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr11:25968200-25968600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr11:25968200-25968800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr11:25968200-25968800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr11:25968400-25968800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:25968800-25972800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:25972800-25973000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:25972800-25973200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:25972800-25973200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:25973000-25973600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:25973200-25979000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:25974000-25974400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:25974400-25989400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:25974600-25975200	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr11:25974800-25975200	Enhancers	Fetal Kidney	kidney
33	chr11:25974800-25975600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr11:25975200-25975600	Weak transcription	Fetal Kidney	kidney
35	chr11:25975600-25975800	Enhancers	Fetal Kidney	kidney
36	chr11:25975800-25982400	Weak transcription	Fetal Kidney	kidney
37	chr11:25979000-25979400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:25979000-25981000	Enhancers	Fetal Lung	lung
39	chr11:25979200-25979400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:25979400-25980000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:25979400-25988600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:25980600-25980800	Bivalent/Poised TSS	Gastric	stomach
43	chr11:25982400-25982600	Enhancers	Fetal Kidney	kidney

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