Variant report

Variant	nsv595421
Chromosome Location	chr4:131540018-131589420
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	chr4:131585119..131587841-chr4:131589594..131591630,2	MCF-7	breast:

Extended variants
information (count: 684 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:684 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533011967	chr4:131554072-131554073	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs187603972	chr4:131554168-131554169	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs557459398	chr4:131554179-131554180	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs77654962	chr4:131554221-131554222	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs543447295	chr4:131554235-131554236	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs561487360	chr4:131554236-131554237	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs35636357	chr4:131554237-131554238	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs397786410	chr4:131554238-131554239	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs192543726	chr4:131554239-131554240	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs7679568	chr4:131554246-131554247	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs560749735	chr4:131554284-131554285	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs527912702	chr4:131554289-131554290	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs111568428	chr4:131554317-131554318	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs551114440	chr4:131554355-131554356	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs564608125	chr4:131554359-131554360	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs182665317	chr4:131554386-131554387	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs550150365	chr4:131554413-131554414	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568334400	chr4:131554423-131554424	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186993892	chr4:131554428-131554429	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192206679	chr4:131554448-131554449	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565617170	chr4:131554457-131554458	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184396403	chr4:131554467-131554468	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557521077	chr4:131554477-131554478	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569424118	chr4:131554486-131554487	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536703042	chr4:131554514-131554515	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72682464	chr4:131554560-131554561	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs573525408	chr4:131554595-131554596	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116866621	chr4:131554611-131554612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs80134686	chr4:131554714-131554715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373682311	chr4:131554739-131554740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190139955	chr4:131554750-131554751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77104147	chr4:131554767-131554768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77755468	chr4:131554775-131554776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543517083	chr4:131554784-131554785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193103063	chr4:131554790-131554791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75342916	chr4:131554797-131554798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374979830	chr4:131554803-131554804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376128518	chr4:131554882-131554883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547385009	chr4:131554883-131554884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565680300	chr4:131554899-131554900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533018897	chr4:131554906-131554907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551166271	chr4:131554917-131554918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574468191	chr4:131554987-131554988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569487100	chr4:131555007-131555008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185537446	chr4:131555132-131555133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189336699	chr4:131555134-131555135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13119834	chr4:131555146-131555147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs180886954	chr4:131555152-131555153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185813993	chr4:131555154-131555155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552962516	chr4:131555172-131555173	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131554000-131554600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:131554000-131554600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:131554000-131554600	ZNF genes & repeats	Lung	lung
4	chr4:131554200-131554400	Enhancers	Pancreas	Pancrea
5	chr4:131554200-131554600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:131554400-131561200	Weak transcription	Pancreas	Pancrea
7	chr4:131554600-131562800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:131561200-131561400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:131561200-131561400	Enhancers	Pancreas	Pancrea
10	chr4:131561200-131562000	Enhancers	Fetal Brain Male	brain
11	chr4:131562800-131563000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:131562800-131563000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:131563000-131563600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:131563000-131567800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:131567800-131568600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:131568000-131568400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:131568000-131568600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr4:131568200-131568600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr4:131568200-131568600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr4:131569400-131569600	Enhancers	Liver	Liver
21	chr4:131569600-131569800	Active TSS	Dnd41	blood
22	chr4:131569600-131570000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:131569600-131570000	Flanking Active TSS	Liver	Liver
24	chr4:131569600-131570200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:131569800-131570000	Flanking Active TSS	Dnd41	blood
26	chr4:131570000-131570200	Active TSS	Liver	Liver
27	chr4:131570200-131570400	Flanking Active TSS	Liver	Liver
28	chr4:131572000-131572800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:131578600-131579000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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