Variant report

Variant	nsv1034250
Chromosome Location	chr4:131080340-131112576
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf33-6	chr4:131089682-131089742	ucscGeneNc_uc003igw_1
2	lnc-C4orf33-6	chr4:131094983-131095181	ucscGeneNc_uc003igw_1
3	lnc-C4orf33-6	chr4:131093879-131093944	ucscGeneNc_uc003igw_1
4	lnc-C4orf33-6	chr4:131095857-131095973	ucscGeneNc_uc003igw_1

Extended variants
information (count: 935 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:935 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146183076	chr4:131085612-131085613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368289569	chr4:131085642-131085643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532133853	chr4:131085660-131085661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567080101	chr4:131085730-131085731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115921165	chr4:131085753-131085754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374037523	chr4:131085756-131085757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550660317	chr4:131085764-131085765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1493216	chr4:131085778-131085779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182293434	chr4:131085787-131085788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10857142	chr4:131085795-131085796	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567934236	chr4:131085796-131085797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs137913920	chr4:131085817-131085818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573758610	chr4:131085844-131085845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112495614	chr4:131085891-131085892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142469744	chr4:131085943-131085944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572499922	chr4:131085985-131085986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536377495	chr4:131086038-131086039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539092967	chr4:131086053-131086054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557415674	chr4:131086104-131086105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575694531	chr4:131086128-131086129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542985308	chr4:131086157-131086158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554699931	chr4:131086162-131086163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572766924	chr4:131086163-131086164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540158178	chr4:131086188-131086189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145990548	chr4:131086197-131086198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12504004	chr4:131086231-131086232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs369750862	chr4:131086245-131086246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113870658	chr4:131086306-131086307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs80351554	chr4:131086329-131086330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17050866	chr4:131086360-131086361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs17050867	chr4:131086453-131086454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs368989154	chr4:131086459-131086460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186089879	chr4:131086521-131086522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528745173	chr4:131086522-131086523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75572803	chr4:131086555-131086556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10007855	chr4:131086557-131086558	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs142211627	chr4:131086559-131086560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552618599	chr4:131086573-131086574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557300874	chr4:131086588-131086589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72936630	chr4:131086643-131086644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs373050681	chr4:131086655-131086656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544600035	chr4:131086720-131086721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10428487	chr4:131086743-131086744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs10428378	chr4:131086767-131086768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs76118024	chr4:131086788-131086789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10428377	chr4:131086798-131086799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs563174697	chr4:131086810-131086811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190988502	chr4:131086865-131086866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377094723	chr4:131086872-131086873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200303178	chr4:131086974-131086975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Colorectal cancer	20459617	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
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131085600-131088400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:131087200-131087800	Enhancers	Fetal Lung	lung
3	chr4:131089400-131093400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:131094000-131094600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:131096600-131099400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:131099200-131099600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:131099200-131099600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:131099400-131100000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:131099400-131100200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr4:131099400-131101600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:131099600-131099800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:131099600-131100600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:131099600-131101400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:131099600-131106200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:131100000-131100400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:131100200-131102600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr4:131100400-131101000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr4:131100400-131101800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:131100600-131101800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr4:131100800-131101800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:131101000-131103600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:131101400-131106600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr4:131101600-131112200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:131101800-131106400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:131102600-131102800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr4:131103600-131104000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr4:131104000-131106400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:131104600-131105200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:131106200-131106800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr4:131106200-131107000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr4:131106200-131107600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr4:131106400-131107000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr4:131106400-131107200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr4:131106600-131107000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr4:131107000-131109600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr4:131107600-131109400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr4:131109400-131109600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr4:131109600-131110000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr4:131110400-131114000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:131112200-131112600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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