Variant report

Variant	nsv880041
Chromosome Location	chr4:133728852-133814532
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	chr4:133770404..133772149-chr4:133774462..133777277,2	MCF-7	breast:
2	chr4:133770404..133772149-chr4:133774462..133777277,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-62N21.1.1-3	chr4:133757927-133758349	XLOC_004079
2	lnc-RP11-62N21.1.1-3	chr4:133791541-133791672	XLOC_004079

Extended variants
information (count: 1077 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1077 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533782048	chr4:133730215-133730216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs56165460	chr4:133730243-133730244	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs199718719	chr4:133730245-133730246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374971311	chr4:133730249-133730250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs57234102	chr4:133730256-133730257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550976934	chr4:133730257-133730258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567377995	chr4:133730258-133730259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536356960	chr4:133730324-133730325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555135015	chr4:133730340-133730341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567599917	chr4:133730365-133730366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34744826	chr4:133730385-133730386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35735925	chr4:133730393-133730394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565586321	chr4:133730396-133730397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566352323	chr4:133730400-133730401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148479540	chr4:133730438-133730439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181357506	chr4:133730452-133730453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375731614	chr4:133730464-133730465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75203997	chr4:133730494-133730495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557644185	chr4:133730497-133730498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556918119	chr4:133730501-133730502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573736053	chr4:133730509-133730510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575816209	chr4:133730538-133730539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185044919	chr4:133730552-133730553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542783937	chr4:133730578-133730579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1597122	chr4:133730607-133730608	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs80035535	chr4:133730637-133730638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73856559	chr4:133730666-133730667	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs1839079	chr4:133730687-133730688	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs182306939	chr4:133730696-133730697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187090387	chr4:133730736-133730737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560988788	chr4:133730746-133730747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111808777	chr4:133730765-133730766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533687218	chr4:133730784-133730785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76933305	chr4:133730935-133730936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78626080	chr4:133730938-133730939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35706425	chr4:133730960-133730961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558657755	chr4:133730991-133730992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79132118	chr4:133731013-133731014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35050772	chr4:133731020-133731021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76180442	chr4:133731030-133731031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1597123	chr4:133731053-133731054	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs534483281	chr4:133731058-133731059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551574516	chr4:133731082-133731083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192365795	chr4:133731095-133731096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142298229	chr4:133731107-133731108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556983381	chr4:133731172-133731173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181478532	chr4:133731178-133731179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536329528	chr4:133731198-133731199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553071311	chr4:133731213-133731214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73856560	chr4:133731281-133731282	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

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
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
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:133730200-133732600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:133730600-133731000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:133734800-133738600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:133736000-133738600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:133738600-133738800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr4:133738600-133739800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr4:133738800-133739600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr4:133738800-133739600	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr4:133738800-133739800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr4:133739000-133739400	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr4:133739000-133739600	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr4:133739200-133739600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr4:133739600-133739800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:133740200-133740600	Active TSS	Fetal Heart	heart
15	chr4:133740400-133740600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:133746000-133747400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:133746200-133747400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:133748400-133748600	Active TSS	Brain Anterior Caudate	brain
19	chr4:133748600-133749000	Enhancers	Brain Angular Gyrus	brain
20	chr4:133748600-133749000	Enhancers	Brain Anterior Caudate	brain
21	chr4:133748800-133749000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr4:133749000-133749200	Active TSS	Brain Anterior Caudate	brain
23	chr4:133759400-133760000	ZNF genes & repeats	Aorta	Aorta
24	chr4:133759600-133759800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:133759600-133760000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:133767000-133767400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:133774000-133774200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:133774200-133785600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:133774600-133775000	Enhancers	HMEC	breast
30	chr4:133782000-133782400	Enhancers	HMEC	breast
31	chr4:133782400-133785600	Weak transcription	HMEC	breast
32	chr4:133785600-133786200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:133785600-133786600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:133785600-133787400	Enhancers	HMEC	breast
35	chr4:133786200-133788200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:133786600-133786800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:133786800-133788000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:133787800-133788000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:133788200-133788600	Enhancers	Brain Hippocampus Middle	brain
40	chr4:133788200-133788600	Enhancers	Brain Substantia Nigra	brain
41	chr4:133804400-133804600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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