Variant report

Variant	nsv969224
Chromosome Location	chr5:59082431-59086204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:59085744..59088656-chr5:59089982..59093707,3	K562	blood:
2	chr5:59085766..59086766-chr9:132250884..132251680,2	Hela-S3	cervix:
3	chr5:59085744..59087906-chr5:59088999..59091482,2	K562	blood:

Variant related genes	Relation type
ENSG00000204054	chromatin interactions

Extended variants
information (count: 132 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576258696	chr5:59082433-59082434	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs180825173	chr5:59082438-59082439	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs567050693	chr5:59082458-59082459	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs536021982	chr5:59082488-59082489	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs555802931	chr5:59082536-59082537	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs367815215	chr5:59082557-59082558	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs184513349	chr5:59082605-59082606	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs377746925	chr5:59082681-59082682	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs543697265	chr5:59082690-59082691	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs189482950	chr5:59082698-59082699	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs146691505	chr5:59082718-59082719	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs547003323	chr5:59082727-59082728	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs371345957	chr5:59082731-59082732	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs556536241	chr5:59082751-59082752	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs530020590	chr5:59082765-59082766	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs545477140	chr5:59082773-59082774	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs73758889	chr5:59082785-59082786	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs572973244	chr5:59082787-59082788	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs78994221	chr5:59082810-59082811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561842495	chr5:59082824-59082825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530785141	chr5:59082844-59082845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560229202	chr5:59082926-59082927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374875700	chr5:59082953-59082954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368128890	chr5:59082964-59082965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533495867	chr5:59082997-59082998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527738987	chr5:59083003-59083004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114893856	chr5:59083011-59083012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566938268	chr5:59083026-59083027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374293455	chr5:59083062-59083063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76878021	chr5:59083084-59083085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377258031	chr5:59083130-59083131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75088603	chr5:59083134-59083135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538520517	chr5:59083135-59083136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556572984	chr5:59083193-59083194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558902062	chr5:59083202-59083203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571585389	chr5:59083212-59083213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181919376	chr5:59083216-59083217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539017613	chr5:59083255-59083256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552663564	chr5:59083265-59083266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572853362	chr5:59083275-59083276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541659699	chr5:59083277-59083278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561914852	chr5:59083287-59083288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564700409	chr5:59083289-59083290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371516805	chr5:59083443-59083444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187504798	chr5:59083445-59083446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145373386	chr5:59083447-59083448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564347830	chr5:59083493-59083494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533383149	chr5:59083531-59083532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373979526	chr5:59083578-59083579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79827275	chr5:59083614-59083615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59068200-59085800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:59081200-59082600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr5:59081200-59083200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:59081400-59082600	Enhancers	Colon Smooth Muscle	Colon
5	chr5:59081400-59083200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:59081400-59083200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:59081400-59083200	Enhancers	Rectal Smooth Muscle	rectum
8	chr5:59081400-59083200	Enhancers	HMEC	breast
9	chr5:59081400-59083200	Enhancers	NHDF-Ad	bronchial
10	chr5:59081600-59082600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:59081600-59082800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:59081600-59082800	Enhancers	NH-A	brain
13	chr5:59081600-59083000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:59081800-59082600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:59081800-59082600	Enhancers	Brain Germinal Matrix	brain
16	chr5:59081800-59082600	Flanking Active TSS	Hela-S3	cervix
17	chr5:59081800-59082600	Enhancers	Osteobl	bone
18	chr5:59081800-59082800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:59081800-59083000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:59081800-59083400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:59081800-59090200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr5:59082000-59082600	Flanking Active TSS	NHEK	skin
23	chr5:59082000-59082800	Flanking Active TSS	A549	lung
24	chr5:59082000-59083000	Enhancers	HUVEC	blood vessel
25	chr5:59082000-59084400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:59082200-59082600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:59082200-59082600	Enhancers	Esophagus	oesophagus
28	chr5:59082200-59082800	Enhancers	HSMM	muscle
29	chr5:59082400-59082600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:59082400-59083200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:59082400-59085000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr5:59082400-59086800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:59082400-59088200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:59082600-59083400	Enhancers	NHEK	skin
35	chr5:59082600-59084200	Weak transcription	Colon Smooth Muscle	Colon
36	chr5:59082600-59085600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:59082600-59085600	Enhancers	Hela-S3	cervix
38	chr5:59082600-59086200	Weak transcription	Osteobl	bone
39	chr5:59082600-59088200	Weak transcription	Esophagus	oesophagus
40	chr5:59082600-59088600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:59082600-59089400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:59082800-59083200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:59082800-59084800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:59082800-59085400	Enhancers	A549	lung
45	chr5:59082800-59085600	Weak transcription	NH-A	brain
46	chr5:59082800-59085800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:59083000-59084800	Weak transcription	HUVEC	blood vessel
48	chr5:59083000-59085800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:59083000-59086200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr5:59083200-59084200	Weak transcription	Rectal Smooth Muscle	rectum

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