Variant report

Variant	nsv526582
Chromosome Location	chr4:131695431-131733521
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:131484711..131485241-chr4:131729403..131730049,2	MCF-7	breast:
2	chr4:131728045..131729636-chr4:131752595..131755137,2	K562	blood:
3	chr4:131484407..131485248-chr4:131695339..131695944,3	MCF-7	breast:
4	chr4:131669140..131669695-chr4:131729818..131730848,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf33-8	chr4:131729666-131733073	NONHSAT098306

Extended variants
information (count: 617 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:617 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3113500	chr4:131695431-131695432	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76902065	chr4:131695455-131695456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540160818	chr4:131695465-131695466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190422938	chr4:131695467-131695468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533914232	chr4:131695469-131695470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548025899	chr4:131695478-131695479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566307089	chr4:131695482-131695483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533672699	chr4:131695505-131695506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552264251	chr4:131695534-131695535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs3103398	chr4:131695570-131695571	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs386679554	chr4:131695635-131695636	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61698261	chr4:131695636-131695637	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs78372136	chr4:131695683-131695684	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536944345	chr4:131695703-131695704	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555230579	chr4:131695738-131695739	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556672629	chr4:131695829-131695830	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs201947552	chr4:131695869-131695870	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs77227867	chr4:131695870-131695871	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs398083516	chr4:131695881-131695882	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs397712760	chr4:131695882-131695883	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs72938308	chr4:131695896-131695897	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs113087807	chr4:131695965-131695966	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs565403059	chr4:131695980-131695981	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs577222743	chr4:131696034-131696035	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs572322	chr4:131696068-131696069	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs562536047	chr4:131696069-131696070	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs369498900	chr4:131696077-131696078	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs184046603	chr4:131696084-131696085	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs559980301	chr4:131696105-131696106	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs386447	chr4:131696110-131696111	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs116649106	chr4:131696124-131696125	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs563697243	chr4:131696162-131696163	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs570537369	chr4:131696172-131696173	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs537534789	chr4:131696177-131696178	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs541016739	chr4:131696226-131696227	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs561034463	chr4:131696238-131696239	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs113485507	chr4:131696240-131696241	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs369090336	chr4:131696293-131696294	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs189125922	chr4:131696331-131696332	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs555318639	chr4:131696336-131696337	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs138243934	chr4:131696365-131696366	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs191874261	chr4:131696403-131696404	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs558846903	chr4:131696417-131696418	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs142254739	chr4:131696418-131696419	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs370327675	chr4:131696431-131696432	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs452356	chr4:131696464-131696465	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs574506835	chr4:131696498-131696499	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs387759	chr4:131696508-131696509	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs182882911	chr4:131696569-131696570	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs143676516	chr4:131696570-131696571	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131689800-131697400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:131690000-131698400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:131693200-131695600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr4:131694400-131695800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr4:131694800-131695600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:131694800-131695600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr4:131695400-131697200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:131695600-131698200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:131695600-131698200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
10	chr4:131697200-131697400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
11	chr4:131697200-131697800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr4:131697400-131698400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr4:131704000-131704200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:131718800-131721600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:131721600-131724200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:131724200-131728000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:131731200-131731400	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr4:131732000-131732200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr4:131733200-131734000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:131733400-131734000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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