Variant report

Variant	nsv830009
Chromosome Location	chr4:94438751-94632656
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:94630994..94631913-chr4:94685511..94686184,4	MCF-7	breast:
2	chr4:94586387..94588031-chr4:94591400..94593375,2	K562	blood:
3	chr4:94606143..94607649-chr4:94607785..94609951,2	K562	blood:
4	chr4:94586387..94588031-chr4:94591400..94593375,2	K562	blood:
5	chr4:94580724..94582519-chr4:94706811..94708361,2	MCF-7	breast:
6	chr4:94606143..94607649-chr4:94607785..94609951,2	K562	blood:
7	chr4:94631324..94632139-chr4:95048906..95049577,2	MCF-7	breast:
8	chr4:94631047..94631863-chr4:94709572..94710287,2	MCF-7	breast:
9	chr4:94506844..94508363-chr5:5980571..5982412,2	MCF-7	breast:

No data

Extended variants
information (count: 3258 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:3258 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191255178	chr4:94438777-94438778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141803384	chr4:94438873-94438874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576608650	chr4:94438902-94438903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563160146	chr4:94438925-94438926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575559598	chr4:94438956-94438957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368810494	chr4:94438962-94438963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544648290	chr4:94438978-94438979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564445597	chr4:94439017-94439018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542721219	chr4:94439029-94439030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374975336	chr4:94439039-94439040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182669335	chr4:94439042-94439043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369005087	chr4:94439094-94439095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62319475	chr4:94439095-94439096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62319476	chr4:94439097-94439098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62319477	chr4:94439098-94439099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62319478	chr4:94439102-94439103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377171969	chr4:94439104-94439105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150506061	chr4:94439105-94439106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs58044371	chr4:94439108-94439109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62319522	chr4:94439119-94439120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529591921	chr4:94439121-94439122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548558324	chr4:94439122-94439123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62319523	chr4:94439123-94439124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77956888	chr4:94439126-94439127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200098769	chr4:94439129-94439130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61081235	chr4:94439132-94439133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62319525	chr4:94439136-94439137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62319526	chr4:94439141-94439142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62319527	chr4:94439143-94439144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62319528	chr4:94439145-94439146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62319529	chr4:94439147-94439148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs58878624	chr4:94439150-94439151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200877263	chr4:94439153-94439154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62319531	chr4:94439154-94439155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57448593	chr4:94439157-94439158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs59358915	chr4:94439160-94439161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62319533	chr4:94439162-94439163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374205918	chr4:94439164-94439165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62319534	chr4:94439167-94439168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376157028	chr4:94439168-94439169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62319535	chr4:94439171-94439172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375390846	chr4:94439172-94439173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62319536	chr4:94439174-94439175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62319537	chr4:94439177-94439178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559688190	chr4:94439193-94439194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112556053	chr4:94439203-94439204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201124636	chr4:94439223-94439224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199716569	chr4:94439224-94439225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565427748	chr4:94439233-94439234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143792920	chr4:94439247-94439248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
lymphocytic leukemia	21291569	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
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Breast cancer	22522925	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	20502679	CNVD
early-passage human iPS cells	21368824	CNVD
Glioma	20126413	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:94432200-94443000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:94443000-94444000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr4:94450000-94452200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:94450600-94451400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:94451400-94455000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:94452800-94454000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:94453000-94453600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:94453200-94453600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:94453200-94453600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:94453200-94453800	Enhancers	Fetal Brain Male	brain
11	chr4:94453400-94453800	Enhancers	Brain Germinal Matrix	brain
12	chr4:94453800-94454800	Weak transcription	Brain Germinal Matrix	brain
13	chr4:94454800-94455000	Enhancers	Brain Germinal Matrix	brain
14	chr4:94455000-94455200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:94457000-94457600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr4:94457400-94458000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:94463000-94464000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr4:94464000-94464600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:94464600-94465000	Enhancers	Fetal Lung	lung
20	chr4:94464600-94465200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr4:94464600-94465200	Enhancers	Brain Substantia Nigra	brain
22	chr4:94465000-94466200	Weak transcription	Fetal Lung	lung
23	chr4:94466400-94466600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:94466400-94466600	Enhancers	Fetal Lung	lung
25	chr4:94466600-94488200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:94488200-94489000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:94498600-94499000	Enhancers	Brain Germinal Matrix	brain
28	chr4:94498800-94499400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:94498800-94499600	Enhancers	Fetal Brain Male	brain
30	chr4:94499000-94499400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr4:94499200-94499600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:94503200-94503400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
33	chr4:94503400-94504800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr4:94504000-94504400	ZNF genes & repeats	Aorta	Aorta
35	chr4:94521800-94522200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:94538400-94538600	Enhancers	Brain Angular Gyrus	brain
37	chr4:94538400-94539000	Active TSS	Brain Anterior Caudate	brain
38	chr4:94538400-94539000	Active TSS	Brain Cingulate Gyrus	brain
39	chr4:94538400-94539200	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr4:94538400-94539200	Active TSS	Brain Substantia Nigra	brain
41	chr4:94538600-94539000	Active TSS	Brain Angular Gyrus	brain
42	chr4:94538600-94539000	Active TSS	Brain Hippocampus Middle	brain
43	chr4:94538600-94539400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:94538800-94539400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr4:94539000-94539200	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr4:94539000-94539200	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr4:94539000-94539600	Enhancers	Brain Angular Gyrus	brain
48	chr4:94539200-94539800	Enhancers	Brain Cingulate Gyrus	brain
49	chr4:94539200-94539800	Enhancers	Brain Substantia Nigra	brain
50	chr4:94539400-94539600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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