Variant report

Variant	nsv975150
Chromosome Location	chr11:10174580-10182242
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 317 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138145369	chr11:10174618-10174619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369573479	chr11:10174667-10174668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563061535	chr11:10174682-10174683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149550070	chr11:10174732-10174733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77761422	chr11:10174757-10174758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539675350	chr11:10174826-10174827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546963730	chr11:10174880-10174881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183544196	chr11:10174935-10174936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188381739	chr11:10174969-10174970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372081530	chr11:10174978-10174979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527252416	chr11:10174979-10174980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547057708	chr11:10175047-10175048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193211802	chr11:10175075-10175076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533875871	chr11:10175092-10175093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529744882	chr11:10175094-10175095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542092177	chr11:10175153-10175154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140576180	chr11:10175215-10175216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569465020	chr11:10175255-10175256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553562990	chr11:10175296-10175297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558396031	chr11:10175351-10175352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11042647	chr11:10175364-10175365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs534224106	chr11:10175390-10175391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553862986	chr11:10175428-10175429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183417796	chr11:10175444-10175445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542748939	chr11:10175495-10175496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186633905	chr11:10175525-10175526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556808080	chr11:10175531-10175532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374176691	chr11:10175564-10175565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535475491	chr11:10175585-10175586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545740250	chr11:10175586-10175587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555732924	chr11:10175592-10175593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191390578	chr11:10175697-10175698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144702407	chr11:10175703-10175704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142817339	chr11:10175743-10175744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112350332	chr11:10175761-10175762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117029320	chr11:10175807-10175808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575883478	chr11:10175922-10175923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560719610	chr11:10175931-10175932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183921638	chr11:10175941-10175942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549424296	chr11:10175954-10175955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569530680	chr11:10175987-10175988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532146257	chr11:10175997-10175998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551930868	chr11:10176038-10176039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373531438	chr11:10176062-10176063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188406012	chr11:10176063-10176064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534602057	chr11:10176101-10176102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554182593	chr11:10176241-10176242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371935323	chr11:10176256-10176257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192746513	chr11:10176309-10176310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544193210	chr11:10176315-10176316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
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
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10157000-10177400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:10162400-10177400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:10162400-10177800	Weak transcription	NHLF	lung
4	chr11:10166800-10177600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:10170600-10189000	Weak transcription	Left Ventricle	heart
6	chr11:10173000-10177400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:10175600-10176400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr11:10175800-10176200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr11:10176000-10176200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr11:10176000-10176200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:10176000-10176200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr11:10176000-10176200	Enhancers	Right Ventricle	heart
13	chr11:10176000-10176400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr11:10176200-10177200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr11:10176200-10177400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:10176200-10177400	Weak transcription	Right Ventricle	heart
17	chr11:10176200-10177600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:10176200-10184000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:10176400-10177400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:10176400-10177600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:10176600-10177200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:10176600-10177400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:10177000-10177400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr11:10177200-10177400	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr11:10177200-10178000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:10177400-10177800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:10177400-10177800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:10177400-10177800	Enhancers	Ovary	ovary
29	chr11:10177400-10177800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr11:10177400-10177800	Active TSS	Spleen	Spleen
31	chr11:10177400-10178000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:10177400-10178000	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:10177400-10178000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:10177400-10178000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:10177400-10178000	ZNF genes & repeats	Esophagus	oesophagus
36	chr11:10177400-10178000	ZNF genes & repeats	Fetal Intestine Large	intestine
37	chr11:10177400-10178000	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr11:10177400-10178000	Genic enhancers	Fetal Muscle Trunk	muscle
39	chr11:10177400-10178000	Enhancers	Lung	lung
40	chr11:10177400-10178000	Enhancers	Pancreas	Pancrea
41	chr11:10177400-10178000	Enhancers	Right Ventricle	heart
42	chr11:10177400-10178200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:10177400-10178200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:10177400-10178200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:10177400-10178400	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr11:10177400-10178800	Enhancers	Psoas Muscle	Psoas
47	chr11:10177600-10177800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
48	chr11:10177600-10177800	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr11:10177600-10178000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:10177600-10178000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung

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