Variant report

Variant	nsv595418
Chromosome Location	chr4:131524184-131569148
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	chr4:131523291..131525354-chr4:131632545..131634300,2	K562	blood:

Extended variants
information (count: 872 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:872 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs899131	chr4:131524184-131524185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553061711	chr4:131524223-131524224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552449307	chr4:131524229-131524230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573043853	chr4:131524246-131524247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570653846	chr4:131524254-131524255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4864005	chr4:131524313-131524314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs556245043	chr4:131524338-131524339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565384693	chr4:131524369-131524370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185499042	chr4:131524386-131524387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188317028	chr4:131524442-131524443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573507697	chr4:131524465-131524466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540521898	chr4:131524518-131524519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs180845470	chr4:131524690-131524691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576982342	chr4:131524732-131524733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530798765	chr4:131524743-131524744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544321997	chr4:131524760-131524761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185881636	chr4:131524786-131524787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374217693	chr4:131524819-131524820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188580797	chr4:131524826-131524827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181699815	chr4:131524843-131524844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12651023	chr4:131524869-131524870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs533566761	chr4:131524876-131524877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548592614	chr4:131524877-131524878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186808319	chr4:131524913-131524914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191714016	chr4:131524919-131524920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552461546	chr4:131524943-131524944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570666260	chr4:131524978-131524979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538008449	chr4:131525029-131525030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549916632	chr4:131525052-131525053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565994651	chr4:131525171-131525172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114386345	chr4:131525176-131525177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183930786	chr4:131525239-131525240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187361177	chr4:131525259-131525260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571936445	chr4:131525349-131525350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534229181	chr4:131525368-131525369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558778790	chr4:131525380-131525381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577040038	chr4:131525465-131525466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74526177	chr4:131525570-131525571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35159848	chr4:131525585-131525586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs58089649	chr4:131525586-131525587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201011755	chr4:131525587-131525588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201819576	chr4:131525588-131525589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562595713	chr4:131525595-131525596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199924784	chr4:131525606-131525607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201042806	chr4:131525609-131525610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189909752	chr4:131525622-131525623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562919524	chr4:131525627-131525628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146215606	chr4:131525629-131525630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541950910	chr4:131525640-131525641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560548306	chr4:131525641-131525642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131523400-131527200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:131527000-131527800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:131527200-131527800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:131527800-131531600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:131531600-131532600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:131554000-131554600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:131554000-131554600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:131554000-131554600	ZNF genes & repeats	Lung	lung
9	chr4:131554200-131554400	Enhancers	Pancreas	Pancrea
10	chr4:131554200-131554600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:131554400-131561200	Weak transcription	Pancreas	Pancrea
12	chr4:131554600-131562800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:131561200-131561400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:131561200-131561400	Enhancers	Pancreas	Pancrea
15	chr4:131561200-131562000	Enhancers	Fetal Brain Male	brain
16	chr4:131562800-131563000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:131562800-131563000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:131563000-131563600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:131563000-131567800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:131567800-131568600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:131568000-131568400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:131568000-131568600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr4:131568200-131568600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr4:131568200-131568600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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