Variant report

Variant	nsv597817
Chromosome Location	chr5:36433782-36460075
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	chr5:36435521..36437217-chr5:36439204..36440753,2	K562	blood:
2	chr5:36438756..36441045-chr5:36448106..36450259,2	MCF-7	breast:
3	chr5:36438693..36440826-chr5:36441335..36444284,3	K562	blood:
4	chr5:36391426..36394057-chr5:36449010..36450884,2	K562	blood:
5	chr5:36448840..36449624-chr7:156724028..156724917,2	MCF-7	breast:
6	chr5:36438693..36440826-chr5:36441335..36444284,3	K562	blood:
7	chr5:36411850..36414736-chr5:36440428..36442973,2	K562	blood:
8	chr5:36438756..36441045-chr5:36448106..36450259,2	MCF-7	breast:
9	chr5:36416985..36419149-chr5:36442977..36445580,2	K562	blood:
10	chr5:36430520..36432569-chr5:36437537..36440478,3	K562	blood:
11	chr5:36415500..36419149-chr5:36442914..36446558,5	K562	blood:
12	chr5:36433442..36435493-chr5:36455039..36456735,2	K562	blood:
13	chr5:36435521..36437217-chr5:36439204..36440753,2	K562	blood:
14	chr5:36433442..36435493-chr5:36455039..36456735,2	K562	blood:
15	chr5:36457469..36459383-chr5:36460695..36462337,2	MCF-7	breast:

No data

Extended variants
information (count: 1119 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1119 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10941292	chr5:36433782-36433783	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs138680430	chr5:36433819-36433820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141585554	chr5:36433834-36433835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113850680	chr5:36433933-36433934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146226728	chr5:36433954-36433955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560549232	chr5:36433984-36433985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529508562	chr5:36433985-36433986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375023673	chr5:36434052-36434053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559984305	chr5:36434109-36434110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367988052	chr5:36434118-36434119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542816482	chr5:36434119-36434120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13159489	chr5:36434126-36434127	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
13	rs542397537	chr5:36434127-36434128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73087985	chr5:36434146-36434147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370112650	chr5:36434151-36434152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571300500	chr5:36434223-36434224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527625628	chr5:36434231-36434232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188127989	chr5:36434359-36434360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77340237	chr5:36434373-36434374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149466246	chr5:36434438-36434439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs36030454	chr5:36434477-36434478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144827115	chr5:36434547-36434548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371737204	chr5:36434552-36434553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12514400	chr5:36434598-36434599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs4291043	chr5:36434604-36434605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs371854884	chr5:36434606-36434607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73087988	chr5:36434653-36434654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533163127	chr5:36434688-36434689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72730740	chr5:36434699-36434700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554462330	chr5:36434703-36434704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574209472	chr5:36434724-36434725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368967792	chr5:36434733-36434734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562741677	chr5:36434746-36434747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74446958	chr5:36434782-36434783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148577492	chr5:36434783-36434784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564966702	chr5:36434817-36434818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192729101	chr5:36434819-36434820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566579455	chr5:36434875-36434876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142981820	chr5:36434950-36434951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547441687	chr5:36434968-36434969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373152907	chr5:36435005-36435006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62354544	chr5:36435032-36435033	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs13164708	chr5:36435034-36435035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs150655666	chr5:36435049-36435050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577825192	chr5:36435053-36435054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13164984	chr5:36435068-36435069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs538763771	chr5:36435075-36435076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183614914	chr5:36435095-36435096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565603249	chr5:36435110-36435111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188277807	chr5:36435122-36435123	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:353 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36432800-36439200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:36434200-36434400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:36434400-36435400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:36435400-36436600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:36435600-36436000	Enhancers	Placenta	Placenta
6	chr5:36435600-36436800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:36435800-36436400	Enhancers	Brain Cingulate Gyrus	brain
8	chr5:36435800-36440800	Enhancers	Brain Anterior Caudate	brain
9	chr5:36436000-36436800	Enhancers	Brain Substantia Nigra	brain
10	chr5:36436000-36437600	Enhancers	Brain Hippocampus Middle	brain
11	chr5:36436000-36441000	Weak transcription	Placenta	Placenta
12	chr5:36436400-36436800	Enhancers	Hela-S3	cervix
13	chr5:36436400-36438600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr5:36436600-36436800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr5:36436600-36436800	Enhancers	Brain Angular Gyrus	brain
16	chr5:36436600-36436800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:36436600-36440000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:36436800-36438000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:36436800-36438800	Weak transcription	Hela-S3	cervix
20	chr5:36436800-36439000	Weak transcription	Brain Substantia Nigra	brain
21	chr5:36437200-36438400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:36437600-36438600	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:36438000-36439200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:36438400-36439400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr5:36438400-36439800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:36438600-36439200	Enhancers	Brain Cingulate Gyrus	brain
27	chr5:36438600-36440400	Enhancers	K562	blood
28	chr5:36438600-36443000	Enhancers	Brain Hippocampus Middle	brain
29	chr5:36438800-36439600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr5:36438800-36439800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:36438800-36442600	Enhancers	Brain Germinal Matrix	brain
32	chr5:36438800-36442600	Enhancers	Hela-S3	cervix
33	chr5:36439000-36440000	Enhancers	Brain Angular Gyrus	brain
34	chr5:36439000-36442400	Enhancers	Brain Substantia Nigra	brain
35	chr5:36439200-36439400	Enhancers	Esophagus	oesophagus
36	chr5:36439200-36439600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:36439200-36440000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr5:36439200-36440000	Enhancers	Fetal Muscle Trunk	muscle
39	chr5:36439200-36440200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr5:36439200-36440400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr5:36439200-36446600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:36439400-36439600	Enhancers	Fetal Muscle Leg	muscle
43	chr5:36439400-36439800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr5:36439400-36440200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:36439400-36441800	Weak transcription	Esophagus	oesophagus
46	chr5:36439600-36439800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:36439800-36440000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:36439800-36440000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:36439800-36440000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr5:36439800-36440200	Enhancers	Fetal Thymus	thymus

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