Variant report

Variant	nsv598255
Chromosome Location	chr5:58830145-58879822
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:58879018..58880553-chr5:58887523..58890077,2	K562	blood:
2	chr13:53222466..53224442-chr5:58866400..58869361,2	MCF-7	breast:
3	chr5:58847787..58849644-chr5:58852199..58853846,2	K562	blood:
4	chr5:58853827..58855352-chr5:58858550..58860453,2	MCF-7	breast:
5	chr5:58802160..58802725-chr5:58865559..58866459,3	MCF-7	breast:
6	chr5:58832234..58834269-chr5:58843258..58845323,2	MCF-7	breast:
7	chr5:58853827..58855352-chr5:58858550..58860453,2	MCF-7	breast:
8	chr5:58858064..58860308-chr5:58864549..58867326,2	K562	blood:
9	chr5:58858064..58860308-chr5:58864549..58867326,2	K562	blood:
10	chr5:58853948..58856765-chr5:58857609..58860199,2	MCF-7	breast:
11	chr5:58843792..58846510-chr5:58858792..58861752,2	MCF-7	breast:
12	chr5:58847787..58849644-chr5:58852199..58853846,2	K562	blood:
13	chr5:58853948..58856765-chr5:58857609..58860199,2	MCF-7	breast:
14	chr5:58832234..58834269-chr5:58843258..58845323,2	MCF-7	breast:
15	chr5:58843792..58846510-chr5:58858792..58861752,2	MCF-7	breast:

No data

Extended variants
information (count: 1746 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1746 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs37576	chr5:58830145-58830146	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569352588	chr5:58830147-58830148	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572516710	chr5:58830148-58830149	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538376626	chr5:58830238-58830239	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139923923	chr5:58830320-58830321	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141599908	chr5:58830358-58830359	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146220936	chr5:58830367-58830368	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139232915	chr5:58830414-58830415	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574013828	chr5:58830454-58830455	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551555751	chr5:58830471-58830472	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533280873	chr5:58830513-58830514	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544489422	chr5:58830522-58830523	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562687463	chr5:58830523-58830524	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535059205	chr5:58830527-58830528	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187654464	chr5:58830538-58830539	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529949737	chr5:58830554-58830555	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544342770	chr5:58830666-58830667	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564031986	chr5:58830689-58830690	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191770285	chr5:58830696-58830697	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185021494	chr5:58830697-58830698	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189645618	chr5:58830747-58830748	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560458775	chr5:58830790-58830791	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543323101	chr5:58830813-58830814	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563502248	chr5:58830826-58830827	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543033568	chr5:58830884-58830885	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs199972488	chr5:58830887-58830888	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2607345	chr5:58830900-58830901	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377242028	chr5:58830902-58830903	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72213048	chr5:58830903-58830904	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370022300	chr5:58830904-58830905	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113130243	chr5:58830905-58830906	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112686085	chr5:58830906-58830907	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527856291	chr5:58830925-58830926	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547609923	chr5:58830942-58830943	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548715809	chr5:58830951-58830952	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567225366	chr5:58830972-58830973	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567600942	chr5:58830991-58830992	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192621579	chr5:58830993-58830994	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554942453	chr5:58830994-58830995	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116606396	chr5:58831011-58831012	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371199349	chr5:58831024-58831025	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537454866	chr5:58831034-58831035	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557800885	chr5:58831038-58831039	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534301024	chr5:58831060-58831061	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374448674	chr5:58831062-58831063	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143981592	chr5:58831063-58831064	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554044510	chr5:58831084-58831085	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184368646	chr5:58831145-58831146	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs80126308	chr5:58831152-58831153	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562778721	chr5:58831159-58831160	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	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
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	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
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	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
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:865 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58815400-58830400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:58819000-58832600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:58820000-58831400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:58822200-58838800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:58822800-58837600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:58823000-58838200	Weak transcription	Fetal Brain Male	brain
7	chr5:58824200-58831400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:58824200-58834600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:58824800-58836000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:58825000-58838600	Weak transcription	HSMMtube	muscle
11	chr5:58825400-58830400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:58828200-58836200	Genic enhancers	A549	lung
13	chr5:58828600-58830400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:58828800-58834200	Weak transcription	Psoas Muscle	Psoas
15	chr5:58828800-58838800	Weak transcription	Gastric	stomach
16	chr5:58830400-58830600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:58830400-58830800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr5:58830400-58839000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:58830800-58834200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:58831400-58831800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr5:58831400-58832000	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr5:58831800-58836000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr5:58832000-58834600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr5:58832600-58832800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:58832600-58833200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:58832600-58833200	Enhancers	Stomach Mucosa	stomach
27	chr5:58833200-58835800	Weak transcription	Stomach Mucosa	stomach
28	chr5:58833400-58833600	Weak transcription	Colon Smooth Muscle	Colon
29	chr5:58833600-58833800	Enhancers	Colon Smooth Muscle	Colon
30	chr5:58833800-58834600	Weak transcription	Colon Smooth Muscle	Colon
31	chr5:58834000-58834600	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr5:58834000-58834600	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr5:58834200-58834400	Enhancers	Stomach Smooth Muscle	stomach
34	chr5:58834200-58834800	Enhancers	Psoas Muscle	Psoas
35	chr5:58834200-58835000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr5:58834400-58834600	Enhancers	Brain Anterior Caudate	brain
37	chr5:58834600-58834800	Enhancers	Brain Germinal Matrix	brain
38	chr5:58834600-58834800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:58834600-58834800	Enhancers	Fetal Brain Female	brain
40	chr5:58834600-58834800	Enhancers	Rectal Smooth Muscle	rectum
41	chr5:58834600-58835000	Enhancers	Colon Smooth Muscle	Colon
42	chr5:58834600-58838800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr5:58834600-58840600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr5:58834600-58840800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:58834800-58835400	Weak transcription	Brain Germinal Matrix	brain
46	chr5:58834800-58835600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:58834800-58835800	Weak transcription	Brain Anterior Caudate	brain
48	chr5:58834800-58835800	Weak transcription	Psoas Muscle	Psoas
49	chr5:58834800-58836200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr5:58835000-58836400	Weak transcription	Colon Smooth Muscle	Colon

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