Variant report

Variant	nsv469363
Chromosome Location	chr12:41155000-41214848
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:41162174..41163889-chr12:41167656..41170084,3	K562	blood:
2	chr12:41154089..41156351-chr12:41156663..41158742,2	K562	blood:
3	chr12:41151197..41153698-chr12:41160986..41163331,2	K562	blood:
4	chr12:41154089..41156351-chr12:41156663..41158742,2	K562	blood:
5	chr12:41162174..41163889-chr12:41167656..41170084,3	K562	blood:

Extended variants
information (count: 1877 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1877 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4768307	chr12:41155000-41155001	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140453370	chr12:41155036-41155037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549137732	chr12:41155078-41155079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567244189	chr12:41155127-41155128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567804988	chr12:41155177-41155178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192103813	chr12:41155185-41155186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553436692	chr12:41155187-41155188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577981799	chr12:41155254-41155255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371859765	chr12:41155272-41155273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376889005	chr12:41155389-41155390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76446348	chr12:41155390-41155391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114123233	chr12:41155404-41155405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10219699	chr12:41155617-41155618	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs371884394	chr12:41155663-41155664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542860376	chr12:41155704-41155705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538699492	chr12:41155735-41155736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560057699	chr12:41155763-41155764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561125169	chr12:41155775-41155776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573437467	chr12:41155799-41155800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78421517	chr12:41155830-41155831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559157639	chr12:41155840-41155841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1584098	chr12:41155859-41155860	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs12231034	chr12:41155884-41155885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375101088	chr12:41155912-41155913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544641409	chr12:41155958-41155959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563638884	chr12:41155969-41155970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530819265	chr12:41156047-41156048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61913872	chr12:41156128-41156129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200155005	chr12:41156197-41156198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370012327	chr12:41156198-41156199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs5797681	chr12:41156199-41156200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs398076582	chr12:41156200-41156201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs398019215	chr12:41156201-41156202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567451056	chr12:41156352-41156353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373456818	chr12:41156358-41156359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141322172	chr12:41156372-41156373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183875099	chr12:41156384-41156385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571603206	chr12:41156422-41156423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145102685	chr12:41156470-41156471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188605630	chr12:41156490-41156491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569562153	chr12:41156501-41156502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571707428	chr12:41156542-41156543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536533719	chr12:41156546-41156547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543900164	chr12:41156611-41156612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554809391	chr12:41156624-41156625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374393614	chr12:41156626-41156627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34632115	chr12:41156641-41156642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138967506	chr12:41156762-41156763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532545834	chr12:41156795-41156796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149417759	chr12:41156802-41156803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:229 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41133800-41162400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:41146200-41187400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:41154800-41156000	Enhancers	A549	lung
4	chr12:41156000-41157600	Weak transcription	A549	lung
5	chr12:41158000-41158200	Enhancers	A549	lung
6	chr12:41162000-41162600	Enhancers	Ovary	ovary
7	chr12:41162200-41162600	Enhancers	Colon Smooth Muscle	Colon
8	chr12:41162200-41162800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr12:41162200-41163000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:41162200-41165000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:41162400-41162600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:41162400-41162600	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr12:41162800-41163000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:41163000-41163400	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr12:41163400-41164200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:41163600-41163800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:41163800-41164000	Enhancers	Brain Cingulate Gyrus	brain
18	chr12:41164000-41166600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:41164200-41165400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr12:41165000-41165200	Enhancers	Brain Cingulate Gyrus	brain
21	chr12:41166400-41167200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr12:41166400-41168000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr12:41166600-41166800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr12:41166600-41167000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr12:41166800-41167600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:41166800-41168200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr12:41166800-41168400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr12:41167000-41167400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:41167000-41167800	Active TSS	Fetal Lung	lung
30	chr12:41167200-41167600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:41167400-41168200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr12:41167600-41168000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr12:41167600-41168200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:41167600-41168200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr12:41167600-41168200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr12:41167800-41168000	Flanking Active TSS	Fetal Lung	lung
37	chr12:41167800-41168200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr12:41168200-41169400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:41168200-41172400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:41168200-41172600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:41168200-41177000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr12:41168200-41177200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr12:41168400-41172400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:41169200-41171000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:41169200-41171400	Enhancers	A549	lung
46	chr12:41169400-41169600	Enhancers	Fetal Lung	lung
47	chr12:41169400-41170000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:41169400-41170600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:41169600-41169800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr12:41170000-41171200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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