Variant report

Variant	nsv470058
Chromosome Location	chr4:97591085-97662437
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:97656660..97659405-chr4:97660873..97663604,2	MCF-7	breast:
2	chr4:97599088..97601352-chr4:97603255..97605429,2	K562	blood:
3	chr4:97589407..97592005-chr4:97594288..97596351,2	K562	blood:
4	chr4:97599088..97601352-chr4:97603255..97605429,2	K562	blood:
5	chr4:97656660..97659405-chr4:97660873..97663604,2	MCF-7	breast:
6	chr4:97589407..97592005-chr4:97594288..97596351,2	K562	blood:

Extended variants
information (count: 1295 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1295 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564507125	chr4:97591618-97591619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147787315	chr4:97591623-97591624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142541268	chr4:97591639-97591640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532263568	chr4:97591690-97591691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530662991	chr4:97591724-97591725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571836594	chr4:97591728-97591729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4386609	chr4:97591784-97591785	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs551044994	chr4:97591792-97591793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569322156	chr4:97591842-97591843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576557203	chr4:97591897-97591898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536716990	chr4:97591908-97591909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76151779	chr4:97591916-97591917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146710628	chr4:97591956-97591957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544392379	chr4:97593423-97593424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4476677	chr4:97593469-97593470	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs4599489	chr4:97593474-97593475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574750227	chr4:97593541-97593542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374874848	chr4:97593542-97593543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs5860474	chr4:97593546-97593547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs5860475	chr4:97593549-97593550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs398092628	chr4:97593556-97593557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113186933	chr4:97593575-97593576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560519400	chr4:97593604-97593605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114371928	chr4:97593642-97593643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575231469	chr4:97593649-97593650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537258978	chr4:97593667-97593668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546309742	chr4:97593675-97593676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564981375	chr4:97593760-97593761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535555014	chr4:97595440-97595441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115704674	chr4:97595453-97595454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs28714297	chr4:97595462-97595463	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs540100700	chr4:97595541-97595542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558148798	chr4:97595587-97595588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568734034	chr4:97595650-97595651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191036186	chr4:97595663-97595664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538411922	chr4:97595668-97595669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145054763	chr4:97595717-97595718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374977940	chr4:97595749-97595750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535857242	chr4:97595770-97595771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548713007	chr4:97595849-97595850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541571116	chr4:97595864-97595865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375094758	chr4:97595873-97595874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557343236	chr4:97595876-97595877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546012294	chr4:97595962-97595963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138850555	chr4:97595996-97595997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531543424	chr4:97596028-97596029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141761306	chr4:97596102-97596103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561753664	chr4:97596103-97596104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182143512	chr4:97596145-97596146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs3938364	chr4:97596146-97596147	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	19197363	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:97591600-97592000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:97593400-97593800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:97595400-97599200	Enhancers	HUVEC	blood vessel
4	chr4:97596200-97597600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:97596600-97597600	Enhancers	Placenta Amnion	Placenta Amnion
6	chr4:97596600-97597600	Enhancers	NH-A	brain
7	chr4:97597600-97598600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:97597600-97598600	Weak transcription	NH-A	brain
9	chr4:97598400-97599000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:97598600-97598800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:97598600-97599000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr4:97598600-97599000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:97598600-97599000	Enhancers	NH-A	brain
14	chr4:97599000-97603400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:97603400-97603800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:97611200-97611400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:97611400-97612200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:97612200-97613000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:97613000-97618800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:97618800-97619000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:97619000-97619800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:97619800-97620600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:97619800-97620600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:97619800-97620600	Enhancers	Brain Germinal Matrix	brain
25	chr4:97619800-97620800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:97619800-97620800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:97620200-97620600	Enhancers	Fetal Kidney	kidney
28	chr4:97620600-97624400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:97620800-97624200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:97620800-97624200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:97624200-97624800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:97624200-97625000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:97624200-97625000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr4:97624200-97625000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:97624200-97625200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:97624400-97624800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr4:97624400-97624800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:97624400-97624800	Enhancers	Brain Anterior Caudate	brain
39	chr4:97624400-97625000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr4:97624400-97625000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr4:97624400-97625000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr4:97624400-97625000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr4:97624400-97625000	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr4:97624400-97625000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:97624600-97625000	Enhancers	H9 Cell Line	embryonic stem cell
46	chr4:97624600-97625000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:97624600-97625000	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr4:97625200-97626200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:97626400-97626600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:97634000-97635000	Enhancers	HUVEC	blood vessel

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