Variant report

Variant	nsv595419
Chromosome Location	chr4:131526935-131629960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:131585119..131587841-chr4:131589594..131591630,2	MCF-7	breast:
2	chr4:131484502..131485054-chr4:131625879..131626789,3	MCF-7	breast:
3	chr4:131585119..131587841-chr4:131589594..131591630,2	MCF-7	breast:
4	chr12:97890108..97893105-chr4:131617432..131619842,2	MCF-7	breast:

Extended variants
information (count: 2008 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2008 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7664241	chr4:131526935-131526936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141698334	chr4:131526979-131526980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532905813	chr4:131527025-131527026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551023217	chr4:131527066-131527067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562949814	chr4:131527105-131527106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7664508	chr4:131527130-131527131	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs550468575	chr4:131527133-131527134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147060565	chr4:131527141-131527142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189452622	chr4:131527152-131527153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191534431	chr4:131527161-131527162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145366031	chr4:131527170-131527171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148740311	chr4:131527252-131527253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539948908	chr4:131527269-131527270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149183376	chr4:131527272-131527273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10027664	chr4:131527277-131527278	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs10518573	chr4:131527279-131527280	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs555712249	chr4:131527304-131527305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532793762	chr4:131527305-131527306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573898689	chr4:131527313-131527314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541310449	chr4:131527330-131527331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559132314	chr4:131527344-131527345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577372396	chr4:131527441-131527442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183716036	chr4:131527485-131527486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143400870	chr4:131527491-131527492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530615386	chr4:131527502-131527503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548728076	chr4:131527535-131527536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551317423	chr4:131527575-131527576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148365786	chr4:131527604-131527605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562398248	chr4:131527696-131527697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113907771	chr4:131527697-131527698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540010080	chr4:131527751-131527752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551919467	chr4:131527772-131527773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74351222	chr4:131527825-131527826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141532948	chr4:131527836-131527837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555519502	chr4:131527884-131527885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573939580	chr4:131527887-131527888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200104943	chr4:131527936-131527937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200698111	chr4:131527955-131527956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188139009	chr4:131527988-131527989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181346486	chr4:131528070-131528071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117758695	chr4:131528098-131528099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556713109	chr4:131528106-131528107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186298410	chr4:131528186-131528187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1459288	chr4:131528197-131528198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs542695492	chr4:131528275-131528276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560729727	chr4:131528287-131528288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190158633	chr4:131528348-131528349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541766350	chr4:131528505-131528506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181875661	chr4:131528508-131528509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs80012349	chr4:131528544-131528545	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:89 , 50 per page) page: 1 2

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
25	chr4:131569400-131569600	Enhancers	Liver	Liver
26	chr4:131569600-131569800	Active TSS	Dnd41	blood
27	chr4:131569600-131570000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:131569600-131570000	Flanking Active TSS	Liver	Liver
29	chr4:131569600-131570200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:131569800-131570000	Flanking Active TSS	Dnd41	blood
31	chr4:131570000-131570200	Active TSS	Liver	Liver
32	chr4:131570200-131570400	Flanking Active TSS	Liver	Liver
33	chr4:131572000-131572800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:131578600-131579000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr4:131590400-131591200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:131591000-131591200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr4:131591000-131591200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:131591200-131591800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr4:131591200-131592600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:131591200-131594600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:131591800-131593800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr4:131592400-131593000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:131592400-131593600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:131592400-131593600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr4:131592600-131592800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:131592800-131593800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:131593000-131593400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:131593400-131597800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:131593800-131595000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr4:131594200-131595000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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