Variant report

Variant	nsv878811
Chromosome Location	chr4:30987395-31019279
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1267 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1267 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7696734	chr4:30987395-30987396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551736474	chr4:30987412-30987413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552831142	chr4:30987425-30987426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114255735	chr4:30987493-30987494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549628094	chr4:30987552-30987553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200266615	chr4:30987585-30987586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201728031	chr4:30987587-30987588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567588700	chr4:30987598-30987599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535094420	chr4:30987684-30987685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78452609	chr4:30987707-30987708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574997931	chr4:30987735-30987736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539516147	chr4:30987767-30987768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563257743	chr4:30987787-30987788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557706975	chr4:30987811-30987812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572972216	chr4:30987839-30987840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540026690	chr4:30987852-30987853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79297717	chr4:30987873-30987874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145771439	chr4:30987878-30987879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544624031	chr4:30987889-30987890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562869981	chr4:30987890-30987891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371818487	chr4:30987891-30987892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533308012	chr4:30987899-30987900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551838263	chr4:30987920-30987921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560549209	chr4:30987925-30987926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559559776	chr4:30987975-30987976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116283677	chr4:30988000-30988001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536198973	chr4:30988037-30988038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549128470	chr4:30988062-30988063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187990899	chr4:30988081-30988082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538101587	chr4:30988090-30988091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550206972	chr4:30988115-30988116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71598135	chr4:30988128-30988129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs539187474	chr4:30988143-30988144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568400193	chr4:30988297-30988298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111330024	chr4:30988304-30988305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572817250	chr4:30988311-30988312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534000705	chr4:30988355-30988356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538424701	chr4:30988362-30988363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191302422	chr4:30988430-30988431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574033036	chr4:30988475-30988476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57182771	chr4:30988530-30988531	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs556630466	chr4:30988550-30988551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577946549	chr4:30988552-30988553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71598136	chr4:30988571-30988572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551024274	chr4:30988580-30988581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs58422152	chr4:30988601-30988602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs397759356	chr4:30988610-30988611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73815131	chr4:30988679-30988680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs73214958	chr4:30988713-30988714	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs570835724	chr4:30988779-30988780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Tetralogy of Fallot	22912587	CNVD
Renal cell carcinoma	18194544	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30928600-30997400	Weak transcription	Fetal Lung	lung
2	chr4:30964600-30992600	Weak transcription	Aorta	Aorta
3	chr4:30982000-30998400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:30992600-30992800	Active TSS	Aorta	Aorta
5	chr4:30992800-30993000	Flanking Active TSS	Aorta	Aorta
6	chr4:30992800-30993200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:30993000-30997400	Weak transcription	Aorta	Aorta
8	chr4:30997200-30997600	ZNF genes & repeats	Fetal Muscle Leg	muscle
9	chr4:30997400-30998000	Enhancers	Aorta	Aorta
10	chr4:30997400-30998200	Strong transcription	Fetal Lung	lung
11	chr4:30997600-30998200	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:30998000-31018000	Weak transcription	Aorta	Aorta
13	chr4:30998200-30999800	Weak transcription	Fetal Lung	lung
14	chr4:31003600-31004200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:31003600-31004600	Enhancers	Fetal Heart	heart
16	chr4:31003800-31004200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr4:31003800-31004200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:31004200-31005600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:31004600-31006400	Weak transcription	Fetal Heart	heart
20	chr4:31005600-31006000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:31006400-31007000	Enhancers	Ovary	ovary
22	chr4:31006400-31007200	Enhancers	Fetal Heart	heart
23	chr4:31007200-31012600	Weak transcription	Fetal Heart	heart
24	chr4:31008600-31009400	Enhancers	Fetal Stomach	stomach
25	chr4:31009400-31009800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr4:31009400-31022000	Weak transcription	Fetal Stomach	stomach
27	chr4:31011400-31011800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:31011400-31013000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr4:31012600-31013200	Enhancers	Fetal Heart	heart
30	chr4:31013000-31018000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:31013200-31015200	Weak transcription	Fetal Heart	heart
32	chr4:31015200-31016400	Enhancers	Fetal Heart	heart
33	chr4:31015800-31016200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:31016400-31016800	Weak transcription	Fetal Heart	heart
35	chr4:31016800-31017000	Enhancers	Fetal Heart	heart
36	chr4:31017000-31018200	Weak transcription	Fetal Heart	heart
37	chr4:31018000-31018600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr4:31018000-31019200	Enhancers	Aorta	Aorta
39	chr4:31018200-31018600	Enhancers	Fetal Heart	heart
40	chr4:31018400-31018600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:31018400-31018600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:31018400-31018600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:31018400-31018600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:31018400-31018600	Enhancers	Gastric	stomach
45	chr4:31018600-31019600	Weak transcription	Fetal Heart	heart
46	chr4:31018600-31028200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:31019200-31022800	Weak transcription	Aorta	Aorta

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