Variant report

Variant	nsv518695
Chromosome Location	chr5:60266875-60329624
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:60309345..60311074-chr5:60313385..60316097,2	K562	blood:
2	chr5:60274623..60276264-chr5:60290570..60293305,2	K562	blood:
3	chr5:60320010..60322208-chr5:60331308..60333222,2	MCF-7	breast:
4	chr5:60306690..60309499-chr5:60316229..60318083,2	MCF-7	breast:
5	chr5:60321206..60323750-chr5:60323786..60326003,2	K562	blood:
6	chr5:60311498..60313138-chr5:60318136..60319841,2	K562	blood:
7	chr5:60268329..60270384-chr5:60275561..60277405,2	K562	blood:
8	chr5:60306690..60309499-chr5:60316229..60318083,2	MCF-7	breast:
9	chr5:60268329..60270384-chr5:60275561..60277405,2	K562	blood:
10	chr5:60324520..60326950-chr5:60332622..60334608,2	K562	blood:
11	chr5:60318175..60320382-chr5:60629060..60630909,2	K562	blood:
12	chr5:60307463..60309346-chr5:60317381..60319314,2	K562	blood:
13	chr5:60305681..60307942-chr5:60309957..60312620,2	MCF-7	breast:
14	chr5:60274623..60276264-chr5:60290570..60293305,2	K562	blood:
15	chr5:60307333..60308996-chr5:60311645..60313281,2	K562	blood:
16	chr5:60321206..60323750-chr5:60323786..60326003,2	K562	blood:
17	chr5:60305681..60307942-chr5:60309957..60312620,2	MCF-7	breast:
18	chr5:60307463..60309346-chr5:60317381..60319314,2	K562	blood:
19	chr5:60311498..60313138-chr5:60318136..60319841,2	K562	blood:
20	chr5:60307333..60308996-chr5:60311645..60313281,2	K562	blood:
21	chr5:60308495..60310817-chr5:60337811..60340272,2	K562	blood:
22	chr5:60309345..60311074-chr5:60313385..60316097,2	K562	blood:
23	chr5:60240835..60243505-chr5:60324746..60327313,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000049167	chromatin interactions
ENSG00000164182	chromatin interactions

Extended variants
information (count: 2192 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:2192 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3101879	chr5:60266875-60266876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs139173318	chr5:60266902-60266903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116054349	chr5:60266908-60266909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563411709	chr5:60266969-60266970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532484062	chr5:60266970-60266971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113992508	chr5:60266971-60266972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200183646	chr5:60266975-60266976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376369830	chr5:60266982-60266983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544762996	chr5:60267037-60267038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190334817	chr5:60267051-60267052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192814718	chr5:60267054-60267055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547655826	chr5:60267091-60267092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567477443	chr5:60267098-60267099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs70977817	chr5:60267113-60267114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529686917	chr5:60267117-60267118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201460194	chr5:60267126-60267127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184928946	chr5:60267195-60267196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569729231	chr5:60267199-60267200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538743391	chr5:60267206-60267207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552036248	chr5:60267261-60267262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566251846	chr5:60267269-60267270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534938666	chr5:60267274-60267275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555220031	chr5:60267275-60267276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112783063	chr5:60267276-60267277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575051320	chr5:60267292-60267293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537012052	chr5:60267294-60267295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556945807	chr5:60267297-60267298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62367861	chr5:60267302-60267303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555396476	chr5:60267357-60267358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559625367	chr5:60267360-60267361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567407549	chr5:60267405-60267406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572184524	chr5:60267409-60267410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374426345	chr5:60267470-60267471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534820495	chr5:60267493-60267494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181175635	chr5:60267536-60267537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111609522	chr5:60267587-60267588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530027209	chr5:60267637-60267638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144701851	chr5:60267710-60267711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563272807	chr5:60267724-60267725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532182053	chr5:60267760-60267761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371279219	chr5:60267786-60267787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185437431	chr5:60267793-60267794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2928244	chr5:60267799-60267800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs188139010	chr5:60267849-60267850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2950235	chr5:60267852-60267853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs182473390	chr5:60267870-60267871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186990411	chr5:60267886-60267887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557278954	chr5:60267919-60267920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79904071	chr5:60267924-60267925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139275320	chr5:60267925-60267926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Contiguous gene syndrome	19525295	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60254200-60288800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:60262400-60288600	Weak transcription	Ovary	ovary
3	chr5:60262800-60288600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:60265200-60270400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:60266200-60317400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:60268200-60268400	Enhancers	Aorta	Aorta
7	chr5:60268400-60275000	Weak transcription	Aorta	Aorta
8	chr5:60269200-60269400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr5:60269200-60274200	Weak transcription	Primary T cells from cord blood	blood
10	chr5:60269400-60270600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:60269400-60270600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:60269400-60275400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:60269600-60270200	Enhancers	Gastric	stomach
14	chr5:60269800-60270000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr5:60270000-60270200	Enhancers	Psoas Muscle	Psoas
16	chr5:60270000-60275200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:60270200-60275600	Weak transcription	Gastric	stomach
18	chr5:60270400-60270600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr5:60270400-60270600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:60270600-60271600	Weak transcription	Fetal Intestine Small	intestine
21	chr5:60270600-60274800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:60270600-60275400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:60270600-60287600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:60271200-60272800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr5:60271400-60272000	Enhancers	Right Atrium	heart
26	chr5:60271600-60272000	Enhancers	Brain Cingulate Gyrus	brain
27	chr5:60271600-60272200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr5:60271800-60273400	Weak transcription	Psoas Muscle	Psoas
29	chr5:60272000-60274200	Weak transcription	Right Atrium	heart
30	chr5:60272200-60272600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr5:60272200-60275800	Enhancers	Fetal Intestine Large	intestine
32	chr5:60272600-60272800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr5:60272600-60273600	Enhancers	K562	blood
34	chr5:60272600-60276000	Enhancers	Fetal Intestine Small	intestine
35	chr5:60272800-60274600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:60272800-60275200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr5:60272800-60277000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr5:60272800-60288600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:60273000-60274400	Enhancers	Pancreas	Pancrea
40	chr5:60273000-60288800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr5:60273600-60274000	Flanking Active TSS	K562	blood
42	chr5:60273600-60275600	Weak transcription	Spleen	Spleen
43	chr5:60273800-60275400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:60273800-60275400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr5:60273800-60275800	Enhancers	Left Ventricle	heart
46	chr5:60273800-60276000	Enhancers	Right Ventricle	heart
47	chr5:60273800-60276400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr5:60274000-60274400	Enhancers	K562	blood
49	chr5:60274000-60276600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:60274000-60277200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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