Variant report

Variant	nsv1013517
Chromosome Location	chr4:19611067-19655316
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:19258834..19261386-chr4:19628228..19629933,2	K562	blood:

Extended variants
information (count: 260 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:260 , 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	rs7675070	chr4:19615812-19615813	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375599225	chr4:19615818-19615819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141660733	chr4:19615819-19615820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145509816	chr4:19615839-19615840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184539051	chr4:19615880-19615881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189369088	chr4:19615948-19615949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs61356602	chr4:19615957-19615958	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs555678549	chr4:19616037-19616038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147719923	chr4:19616038-19616039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373841730	chr4:19616096-19616097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76525740	chr4:19616122-19616123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182035068	chr4:19616137-19616138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142583938	chr4:19616152-19616153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186489034	chr4:19616228-19616229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559874306	chr4:19616247-19616248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143389174	chr4:19616272-19616273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545488113	chr4:19616273-19616274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563888749	chr4:19616281-19616282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376506307	chr4:19616414-19616415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549972281	chr4:19616437-19616438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562373040	chr4:19616477-19616478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529582119	chr4:19616529-19616530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs3904756	chr4:19616531-19616532	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
24	rs565925220	chr4:19616572-19616573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73251265	chr4:19616583-19616584	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs551851491	chr4:19616584-19616585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376562188	chr4:19616589-19616590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538002055	chr4:19616604-19616605	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs556413991	chr4:19616632-19616633	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs148385624	chr4:19616633-19616634	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs10025939	chr4:19616649-19616650	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs376224468	chr4:19616672-19616673	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs554078221	chr4:19616677-19616678	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs75542634	chr4:19616822-19616823	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs374129077	chr4:19616837-19616838	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs557391537	chr4:19616850-19616851	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs376685185	chr4:19616851-19616852	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs189364383	chr4:19616852-19616853	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs543583355	chr4:19616867-19616868	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs562126329	chr4:19616883-19616884	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs181613550	chr4:19616890-19616891	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs111887264	chr4:19616906-19616907	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs7681473	chr4:19616924-19616925	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs73251266	chr4:19616981-19616982	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs140684019	chr4:19616993-19616994	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs150093754	chr4:19616994-19616995	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs74843859	chr4:19616999-19617000	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs531003398	chr4:19617011-19617012	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs549492875	chr4:19617013-19617014	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs552660343	chr4:19617028-19617029	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19615800-19616400	Enhancers	NHEK	skin
2	chr4:19616000-19616600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:19616000-19617000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:19616000-19617000	Enhancers	HMEC	breast
5	chr4:19616600-19617200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:19616600-19617400	ZNF genes & repeats	Aorta	Aorta
7	chr4:19616600-19617600	Enhancers	Dnd41	blood
8	chr4:19624000-19624400	Enhancers	Dnd41	blood
9	chr4:19625400-19626000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:19630800-19631600	Enhancers	Fetal Lung	lung
11	chr4:19630800-19632000	Enhancers	Fetal Kidney	kidney
12	chr4:19631200-19631800	Enhancers	Colon Smooth Muscle	Colon
13	chr4:19631400-19631800	Enhancers	Rectal Smooth Muscle	rectum
14	chr4:19636200-19636400	Enhancers	Aorta	Aorta
15	chr4:19638000-19638800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:19652600-19652800	Enhancers	NHDF-Ad	bronchial
17	chr4:19652800-19653200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:19652800-19653200	Active TSS	NHDF-Ad	bronchial
19	chr4:19653200-19654000	Enhancers	NHDF-Ad	bronchial

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