Variant report

Variant	nsv523058
Chromosome Location	chr4:55018617-55045716
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	chr4:54967560..54969215-chr4:55017035..55019730,2	K562	blood:

Extended variants
information (count: 905 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:905 , 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	rs2033054	chr4:55018617-55018618	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543734056	chr4:55018628-55018629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189710379	chr4:55018652-55018653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540871893	chr4:55018684-55018685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556057114	chr4:55018745-55018746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs733003	chr4:55018783-55018784	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs183387902	chr4:55018797-55018798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143364472	chr4:55018800-55018801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562562457	chr4:55018859-55018860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530668759	chr4:55018887-55018888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559559613	chr4:55018889-55018890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529421544	chr4:55018908-55018909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550608776	chr4:55018909-55018910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567589373	chr4:55018921-55018922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11133307	chr4:55018996-55018997	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs546801427	chr4:55019044-55019045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566538682	chr4:55019083-55019084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538759762	chr4:55019091-55019092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558542014	chr4:55019141-55019142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114577144	chr4:55019199-55019200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144835519	chr4:55019228-55019229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541736452	chr4:55019273-55019274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575107915	chr4:55019274-55019275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540451628	chr4:55019347-55019348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554356469	chr4:55019358-55019359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576897011	chr4:55019362-55019363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148510991	chr4:55019369-55019370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35297835	chr4:55019384-55019385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562501165	chr4:55019455-55019456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187924218	chr4:55019460-55019461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374929223	chr4:55019490-55019491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113594358	chr4:55019538-55019539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575422135	chr4:55019579-55019580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561002792	chr4:55019592-55019593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147174189	chr4:55019598-55019599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530019139	chr4:55019647-55019648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546450512	chr4:55019652-55019653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560394529	chr4:55019669-55019670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532205038	chr4:55019746-55019747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141816696	chr4:55019782-55019783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150647454	chr4:55019790-55019791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12649397	chr4:55019823-55019824	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs372414047	chr4:55019824-55019825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550500542	chr4:55019876-55019877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564246474	chr4:55019935-55019936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567599355	chr4:55019964-55019965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112763910	chr4:55020033-55020034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548204554	chr4:55020044-55020045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533067076	chr4:55020071-55020072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568623347	chr4:55020100-55020101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Cancer	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	17440070	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55018400-55020200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:55018400-55020400	Enhancers	HMEC	breast
3	chr4:55018400-55020400	Enhancers	NHEK	skin
4	chr4:55018600-55018800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:55018600-55019600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:55018600-55019800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:55018600-55019800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:55018600-55019800	Enhancers	NH-A	brain
9	chr4:55018600-55019800	Enhancers	NHLF	lung
10	chr4:55018600-55020000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:55018600-55020000	Enhancers	HSMMtube	muscle
12	chr4:55018600-55020200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:55018600-55020200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:55018600-55020200	Enhancers	HSMM	muscle
15	chr4:55018600-55020400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:55018800-55036200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:55019000-55019200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:55019000-55019600	Enhancers	Osteobl	bone
19	chr4:55019200-55022000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:55019400-55019600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:55019600-55021400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:55020000-55030800	Weak transcription	HSMMtube	muscle
23	chr4:55020200-55021600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:55020200-55022200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:55020400-55021800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:55020400-55021800	Weak transcription	HMEC	breast
27	chr4:55020400-55022000	Weak transcription	NHEK	skin
28	chr4:55021400-55021600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:55021600-55022200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:55021800-55022600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:55021800-55022600	Enhancers	HMEC	breast
32	chr4:55022000-55022200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr4:55022000-55022400	Enhancers	NHEK	skin
34	chr4:55022000-55022600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:55022200-55022400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:55022200-55022400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:55023800-55024200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr4:55026200-55026400	ZNF genes & repeats	Aorta	Aorta
39	chr4:55026400-55030800	Weak transcription	Aorta	Aorta
40	chr4:55028600-55029600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:55029000-55029200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr4:55029200-55029400	Enhancers	Osteobl	bone
43	chr4:55029200-55029800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:55029200-55030800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr4:55029400-55029600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:55029400-55030600	Weak transcription	Osteobl	bone
47	chr4:55029600-55031200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:55029800-55031200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:55030600-55032400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:55030600-55032400	Enhancers	Osteobl	bone

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