Variant report

Variant	nsv4344
Chromosome Location	chr4:55260607-55305235
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:55188871..55189578-chr4:55299616..55300145,2	K562	blood:
2	chr4:55188755..55189636-chr4:55299369..55300499,5	MCF-7	breast:
3	chr4:55256441..55258083-chr4:55260839..55263019,2	MCF-7	breast:
4	chr4:55255971..55258181-chr4:55258208..55260924,2	K562	blood:
5	chr4:55250489..55251478-chr4:55299251..55300496,11	MCF-7	breast:
6	chr4:55250409..55251416-chr4:55298925..55300493,6	MCF-7	breast:
7	chr4:55188651..55189879-chr4:55299577..55300637,10	MCF-7	breast:

Extended variants
information (count: 1512 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1512 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372166601	chr4:55260616-55260617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537648605	chr4:55260667-55260668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574865981	chr4:55260681-55260682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73820740	chr4:55260708-55260709	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs192838420	chr4:55260724-55260725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114547016	chr4:55260731-55260732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185692023	chr4:55260757-55260758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189161954	chr4:55260803-55260804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546125261	chr4:55260804-55260805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562850113	chr4:55260818-55260819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531885387	chr4:55260864-55260865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548515096	chr4:55260884-55260885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368725550	chr4:55260907-55260908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs56081664	chr4:55260931-55260932	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs150511882	chr4:55260947-55260948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564246098	chr4:55260970-55260971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139444490	chr4:55260984-55260985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539850726	chr4:55261017-55261018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552455210	chr4:55261029-55261030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569196953	chr4:55261054-55261055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180979911	chr4:55261075-55261076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554500462	chr4:55261087-55261088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574452311	chr4:55261090-55261091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533696176	chr4:55261120-55261121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553339861	chr4:55261136-55261137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576386944	chr4:55261137-55261138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545395566	chr4:55261140-55261141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562810571	chr4:55261199-55261200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531739127	chr4:55261213-55261214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576700319	chr4:55261235-55261236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542390273	chr4:55261309-55261310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149697744	chr4:55261329-55261330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377529922	chr4:55261332-55261333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116689911	chr4:55261338-55261339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144508989	chr4:55261363-55261364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564576229	chr4:55261389-55261390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533337801	chr4:55261396-55261397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550213945	chr4:55261414-55261415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569117289	chr4:55261452-55261453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185065369	chr4:55261464-55261465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548362168	chr4:55261488-55261489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549855669	chr4:55261514-55261515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74385167	chr4:55261614-55261615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373631600	chr4:55261690-55261691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533745379	chr4:55261712-55261713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188652840	chr4:55261723-55261724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553403207	chr4:55261750-55261751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570232819	chr4:55261761-55261762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539033861	chr4:55261861-55261862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181235480	chr4:55261900-55261901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Hodgkin''s lymphoma	17606441	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
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164920	CNVD
Cancer	22183965	CNVD
Cancer	20164919	CNVD
Gastrointestinal stromal cancer	17527083	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17209131	CNVD
Melanoma	19509136	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55257800-55261000	Weak transcription	Lung	lung
2	chr4:55260400-55261800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:55260400-55261800	Enhancers	Spleen	Spleen
4	chr4:55260800-55261600	Enhancers	Colonic Mucosa	Colon
5	chr4:55261000-55261600	Enhancers	Lung	lung
6	chr4:55261000-55261600	Enhancers	Right Ventricle	heart
7	chr4:55261200-55264600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr4:55261400-55261800	Enhancers	Left Ventricle	heart
9	chr4:55261600-55263000	Weak transcription	Lung	lung
10	chr4:55263000-55263200	Enhancers	Lung	lung
11	chr4:55264200-55265000	Enhancers	Primary hematopoietic stem cells	blood
12	chr4:55264200-55267600	Enhancers	Fetal Stomach	stomach
13	chr4:55264400-55268400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:55264600-55265200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:55264600-55265400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:55264600-55265800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:55264600-55266000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:55264600-55267600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:55264800-55265000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:55264800-55265200	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr4:55264800-55265600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:55265000-55265200	Enhancers	Brain Hippocampus Middle	brain
23	chr4:55265000-55266400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:55265000-55266800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:55265200-55265400	Enhancers	Brain Anterior Caudate	brain
26	chr4:55265200-55265400	Enhancers	Osteobl	bone
27	chr4:55265200-55266000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:55265200-55266200	Weak transcription	Brain Hippocampus Middle	brain
29	chr4:55265200-55266200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:55265200-55267000	Weak transcription	Fetal Brain Male	brain
31	chr4:55265200-55267200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:55265200-55267200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr4:55265400-55265600	Enhancers	Brain Substantia Nigra	brain
34	chr4:55265400-55266400	Weak transcription	Brain Anterior Caudate	brain
35	chr4:55265400-55267000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:55265400-55267000	Weak transcription	Osteobl	bone
37	chr4:55265400-55267400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr4:55265600-55266200	Weak transcription	Brain Substantia Nigra	brain
39	chr4:55265600-55266800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:55265800-55266800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:55266000-55266400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:55266200-55266400	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr4:55266200-55267600	Enhancers	Brain Cingulate Gyrus	brain
44	chr4:55266200-55267800	Enhancers	Brain Hippocampus Middle	brain
45	chr4:55266200-55268000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr4:55266200-55268000	Enhancers	Brain Substantia Nigra	brain
47	chr4:55266400-55266800	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr4:55266400-55267200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:55266400-55267200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr4:55266400-55267200	Enhancers	Ovary	ovary

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