Variant report

Variant	nsv467777
Chromosome Location	chr11:25959082-25985507
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1190 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1190 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1441490	chr11:25959082-25959083	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374882902	chr11:25959093-25959094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146932498	chr11:25959137-25959138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535406345	chr11:25959144-25959145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79278710	chr11:25959146-25959147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568792680	chr11:25959174-25959175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539485270	chr11:25959219-25959220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557724906	chr11:25959221-25959222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11029029	chr11:25959227-25959228	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs142346632	chr11:25959249-25959250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555706791	chr11:25959294-25959295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574208479	chr11:25959302-25959303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373702266	chr11:25959315-25959316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150839685	chr11:25959330-25959331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1441491	chr11:25959495-25959496	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs117122410	chr11:25959497-25959498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545819341	chr11:25959557-25959558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564031491	chr11:25959586-25959587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528188606	chr11:25959636-25959637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79414485	chr11:25959646-25959647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561606303	chr11:25959671-25959672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117056349	chr11:25959689-25959690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550348195	chr11:25959742-25959743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs55883800	chr11:25959764-25959765	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs539299170	chr11:25959781-25959782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559450620	chr11:25959789-25959790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551379205	chr11:25959829-25959830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535707827	chr11:25959830-25959831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4922749	chr11:25959832-25959833	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs10501027	chr11:25959858-25959859	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570250210	chr11:25959860-25959861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368653754	chr11:25959878-25959879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187502227	chr11:25959894-25959895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574041480	chr11:25959916-25959917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538478099	chr11:25959961-25959962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531098164	chr11:25960006-25960007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs193254790	chr11:25960011-25960012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549681120	chr11:25960022-25960023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72875043	chr11:25960024-25960025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545681149	chr11:25960032-25960033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185396815	chr11:25960078-25960079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190594426	chr11:25960080-25960081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7129951	chr11:25960143-25960144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561859719	chr11:25960176-25960177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528975204	chr11:25960179-25960180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139577416	chr11:25960211-25960212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78543293	chr11:25960215-25960216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201332738	chr11:25960227-25960228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78117327	chr11:25960283-25960284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574001549	chr11:25960289-25960290	Enhancers Weak transcription	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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25958800-25960800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr11:25959000-25959400	Enhancers	Fetal Lung	lung
3	chr11:25960000-25960200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr11:25960000-25961000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr11:25960200-25960800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:25960200-25961200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr11:25960400-25961400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr11:25960600-25962800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr11:25960800-25961000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:25960800-25961200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr11:25960800-25961600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr11:25960800-25961600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:25961000-25968000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:25961000-25972800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:25961200-25968200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:25961400-25963200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr11:25961600-25972800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:25962800-25963200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:25963000-25963200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:25963200-25963600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr11:25963200-25979200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:25965200-25966000	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr11:25965400-25965800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:25965400-25966000	Active TSS	Colonic Mucosa	Colon
25	chr11:25965400-25966000	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr11:25965600-25966000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:25965800-25966200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:25966200-25974000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:25966400-25967400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr11:25967400-25967800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr11:25967400-25967800	Enhancers	Fetal Brain Male	brain
32	chr11:25967800-25968400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr11:25968000-25968800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr11:25968200-25968400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr11:25968200-25968600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr11:25968200-25968800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr11:25968200-25968800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr11:25968400-25968800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:25968800-25972800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:25972800-25973000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:25972800-25973200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:25972800-25973200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:25973000-25973600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:25973200-25979000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:25974000-25974400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:25974400-25989400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:25974600-25975200	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr11:25974800-25975200	Enhancers	Fetal Kidney	kidney
49	chr11:25974800-25975600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr11:25975200-25975600	Weak transcription	Fetal Kidney	kidney

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