Variant report

Variant	nsv597816
Chromosome Location	chr5:36431978-36443160
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:36430520..36432569-chr5:36437537..36440478,3	K562	blood:
2	chr5:36433442..36435493-chr5:36455039..36456735,2	K562	blood:
3	chr5:36416985..36419149-chr5:36442977..36445580,2	K562	blood:
4	chr5:36435521..36437217-chr5:36439204..36440753,2	K562	blood:
5	chr5:36430520..36432569-chr5:36437537..36440478,3	K562	blood:
6	chr5:36415500..36419149-chr5:36442914..36446558,5	K562	blood:
7	chr5:36438756..36441045-chr5:36448106..36450259,2	MCF-7	breast:
8	chr5:36411850..36414736-chr5:36440428..36442973,2	K562	blood:
9	chr5:36438693..36440826-chr5:36441335..36444284,3	K562	blood:
10	chr5:36438693..36440826-chr5:36441335..36444284,3	K562	blood:
11	chr5:36435521..36437217-chr5:36439204..36440753,2	K562	blood:

No data

Extended variants
information (count: 484 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:484 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4602648	chr5:36431978-36431979	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573140944	chr5:36432023-36432024	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116014914	chr5:36432025-36432026	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181864759	chr5:36432027-36432028	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560224346	chr5:36432037-36432038	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142390938	chr5:36432053-36432054	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544004424	chr5:36432081-36432082	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563934330	chr5:36432098-36432099	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186431744	chr5:36432101-36432102	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs60635597	chr5:36432123-36432124	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs146561808	chr5:36432126-36432127	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528906776	chr5:36432128-36432129	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548932492	chr5:36432177-36432178	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191264199	chr5:36432217-36432218	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562255693	chr5:36432257-36432258	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147876168	chr5:36432266-36432267	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs386687228	chr5:36432290-36432291	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116753093	chr5:36432291-36432292	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547093669	chr5:36432350-36432351	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566922580	chr5:36432367-36432368	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535489865	chr5:36432404-36432405	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548844058	chr5:36432405-36432406	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575495692	chr5:36432431-36432432	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377329923	chr5:36432433-36432434	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182086042	chr5:36432434-36432435	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368426326	chr5:36432467-36432468	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs397947846	chr5:36432471-36432472	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557563478	chr5:36432474-36432475	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577391753	chr5:36432484-36432485	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549298861	chr5:36432488-36432489	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185104604	chr5:36432490-36432491	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141588610	chr5:36432494-36432495	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116306506	chr5:36432514-36432515	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373960897	chr5:36432551-36432552	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562501808	chr5:36432579-36432580	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143595075	chr5:36432594-36432595	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551279759	chr5:36432607-36432608	ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564699169	chr5:36432626-36432627	ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370082187	chr5:36432636-36432637	ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113103245	chr5:36432647-36432648	ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533581089	chr5:36432679-36432680	ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs61175833	chr5:36432681-36432682	ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs72730739	chr5:36432703-36432704	ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs565784473	chr5:36432742-36432743	ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535939927	chr5:36432776-36432777	ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs56085130	chr5:36432834-36432835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs148068033	chr5:36432836-36432837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371299470	chr5:36432840-36432841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537773825	chr5:36432842-36432843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79432020	chr5:36432848-36432849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
prenatal diagnosis	22389664	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	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
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21147910	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36422800-36432000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:36432000-36432200	Enhancers	Spleen	Spleen
3	chr5:36432000-36432400	Enhancers	Left Ventricle	heart
4	chr5:36432000-36432400	Enhancers	Right Atrium	heart
5	chr5:36432000-36432600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:36432000-36432800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:36432000-36432800	Enhancers	Right Ventricle	heart
8	chr5:36432600-36432800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:36432800-36439200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:36434200-36434400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:36434400-36435400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:36435400-36436600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:36435600-36436000	Enhancers	Placenta	Placenta
14	chr5:36435600-36436800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:36435800-36436400	Enhancers	Brain Cingulate Gyrus	brain
16	chr5:36435800-36440800	Enhancers	Brain Anterior Caudate	brain
17	chr5:36436000-36436800	Enhancers	Brain Substantia Nigra	brain
18	chr5:36436000-36437600	Enhancers	Brain Hippocampus Middle	brain
19	chr5:36436000-36441000	Weak transcription	Placenta	Placenta
20	chr5:36436400-36436800	Enhancers	Hela-S3	cervix
21	chr5:36436400-36438600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr5:36436600-36436800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr5:36436600-36436800	Enhancers	Brain Angular Gyrus	brain
24	chr5:36436600-36436800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:36436600-36440000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:36436800-36438000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:36436800-36438800	Weak transcription	Hela-S3	cervix
28	chr5:36436800-36439000	Weak transcription	Brain Substantia Nigra	brain
29	chr5:36437200-36438400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:36437600-36438600	Weak transcription	Brain Hippocampus Middle	brain
31	chr5:36438000-36439200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:36438400-36439400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr5:36438400-36439800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:36438600-36439200	Enhancers	Brain Cingulate Gyrus	brain
35	chr5:36438600-36440400	Enhancers	K562	blood
36	chr5:36438600-36443000	Enhancers	Brain Hippocampus Middle	brain
37	chr5:36438800-36439600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr5:36438800-36439800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:36438800-36442600	Enhancers	Brain Germinal Matrix	brain
40	chr5:36438800-36442600	Enhancers	Hela-S3	cervix
41	chr5:36439000-36440000	Enhancers	Brain Angular Gyrus	brain
42	chr5:36439000-36442400	Enhancers	Brain Substantia Nigra	brain
43	chr5:36439200-36439400	Enhancers	Esophagus	oesophagus
44	chr5:36439200-36439600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:36439200-36440000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr5:36439200-36440000	Enhancers	Fetal Muscle Trunk	muscle
47	chr5:36439200-36440200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr5:36439200-36440400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr5:36439200-36446600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:36439400-36439600	Enhancers	Fetal Muscle Leg	muscle

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