Variant report

Variant	nsv597818
Chromosome Location	chr5:36440940-36460462
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:36391426..36394057-chr5:36449010..36450884,2	K562	blood:
2	chr5:36415500..36419149-chr5:36442914..36446558,5	K562	blood:
3	chr5:36438693..36440826-chr5:36441335..36444284,3	K562	blood:
4	chr5:36411850..36414736-chr5:36440428..36442973,2	K562	blood:
5	chr5:36416985..36419149-chr5:36442977..36445580,2	K562	blood:
6	chr5:36438756..36441045-chr5:36448106..36450259,2	MCF-7	breast:
7	chr5:36438756..36441045-chr5:36448106..36450259,2	MCF-7	breast:
8	chr5:36433442..36435493-chr5:36455039..36456735,2	K562	blood:
9	chr5:36448840..36449624-chr7:156724028..156724917,2	MCF-7	breast:
10	chr5:36457469..36459383-chr5:36460695..36462337,2	MCF-7	breast:

No data

Extended variants
information (count: 838 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:838 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4242267	chr5:36440940-36440941	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs4242268	chr5:36440968-36440969	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs543680258	chr5:36440974-36440975	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs559386798	chr5:36441013-36441014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563456773	chr5:36441038-36441039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533261151	chr5:36441039-36441040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552007587	chr5:36441042-36441043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188654663	chr5:36441044-36441045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs58154623	chr5:36441054-36441055	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs547738175	chr5:36441055-36441056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370259808	chr5:36441073-36441074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567666305	chr5:36441088-36441089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72730749	chr5:36441095-36441096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556375961	chr5:36441102-36441103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570131238	chr5:36441204-36441205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539196638	chr5:36441218-36441219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558801437	chr5:36441240-36441241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538843615	chr5:36441305-36441306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4334910	chr5:36441351-36441352	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs79705289	chr5:36441358-36441359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574820113	chr5:36441405-36441406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370302634	chr5:36441434-36441435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180737533	chr5:36441459-36441460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556256198	chr5:36441462-36441463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563546365	chr5:36441463-36441464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576977966	chr5:36441475-36441476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78393706	chr5:36441493-36441494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545943386	chr5:36441530-36441531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559187681	chr5:36441550-36441551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528187707	chr5:36441559-36441560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75920286	chr5:36441568-36441569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116620188	chr5:36441663-36441664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547013125	chr5:36441666-36441667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555417246	chr5:36441667-36441668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199668458	chr5:36441676-36441677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61570430	chr5:36441686-36441687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377581455	chr5:36441724-36441725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34835600	chr5:36441727-36441728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185994397	chr5:36441841-36441842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551506423	chr5:36441868-36441869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138036192	chr5:36441886-36441887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570297389	chr5:36441905-36441906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370510958	chr5:36441912-36441913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs16903046	chr5:36441932-36441933	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs72730752	chr5:36442008-36442009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111542945	chr5:36442025-36442026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34082290	chr5:36442036-36442037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566079518	chr5:36442048-36442049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182097164	chr5:36442056-36442057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112266016	chr5:36442063-36442064	Enhancers 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:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36436000-36441000	Weak transcription	Placenta	Placenta
2	chr5:36438600-36443000	Enhancers	Brain Hippocampus Middle	brain
3	chr5:36438800-36442600	Enhancers	Brain Germinal Matrix	brain
4	chr5:36438800-36442600	Enhancers	Hela-S3	cervix
5	chr5:36439000-36442400	Enhancers	Brain Substantia Nigra	brain
6	chr5:36439200-36446600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:36439400-36441800	Weak transcription	Esophagus	oesophagus
8	chr5:36439800-36441200	Enhancers	Fetal Brain Male	brain
9	chr5:36439800-36446400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:36440000-36441000	Weak transcription	Brain Angular Gyrus	brain
11	chr5:36440000-36441800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:36440000-36442200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:36440000-36444600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:36440200-36441000	Enhancers	Fetal Brain Female	brain
15	chr5:36440200-36441600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:36440200-36442400	Weak transcription	Fetal Thymus	thymus
17	chr5:36440200-36444200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:36440200-36444200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:36440400-36442200	Enhancers	Brain Cingulate Gyrus	brain
20	chr5:36440600-36445600	Enhancers	Stomach Mucosa	stomach
21	chr5:36440600-36445800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:36440800-36441000	Flanking Active TSS	K562	blood
23	chr5:36440800-36441200	Enhancers	Fetal Kidney	kidney
24	chr5:36440800-36441800	Weak transcription	Brain Anterior Caudate	brain
25	chr5:36440800-36442400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:36440800-36442600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:36441000-36441200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr5:36441000-36441200	Enhancers	Brain Angular Gyrus	brain
29	chr5:36441000-36441200	Enhancers	Fetal Muscle Leg	muscle
30	chr5:36441000-36441200	Enhancers	Placenta	Placenta
31	chr5:36441000-36442000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:36441000-36442000	Weak transcription	Fetal Brain Female	brain
33	chr5:36441000-36442400	Enhancers	K562	blood
34	chr5:36441200-36441600	Weak transcription	Brain Angular Gyrus	brain
35	chr5:36441200-36441600	Weak transcription	Placenta	Placenta
36	chr5:36441200-36442000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:36441200-36444200	Weak transcription	Fetal Kidney	kidney
38	chr5:36441600-36442200	Enhancers	Brain Angular Gyrus	brain
39	chr5:36441600-36443600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:36441600-36446600	Enhancers	Placenta	Placenta
41	chr5:36441800-36442000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:36441800-36442000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:36441800-36442200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:36441800-36442200	Enhancers	Gastric	stomach
45	chr5:36441800-36442600	Enhancers	NHEK	skin
46	chr5:36441800-36442800	Enhancers	Esophagus	oesophagus
47	chr5:36441800-36443000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:36441800-36443000	Enhancers	Brain Anterior Caudate	brain
49	chr5:36441800-36443200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr5:36441800-36445400	Enhancers	HMEC	breast

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