Variant report

Variant	nsv528986
Chromosome Location	chr5:36689363-36692112
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:36683268..36685538-chr5:36688361..36690027,2	MCF-7	breast:
2	chr5:36666970..36669597-chr5:36688949..36691021,2	MCF-7	breast:
3	chr5:36691466..36694472-chr5:36698909..36701158,3	K562	blood:
4	chr5:36414523..36415507-chr5:36690444..36691337,4	MCF-7	breast:
5	chr5:36602958..36603570-chr5:36688895..36689448,2	MCF-7	breast:
6	chr5:36602570..36603716-chr5:36690159..36691138,5	MCF-7	breast:
7	chr5:36679517..36682118-chr5:36687238..36691565,3	MCF-7	breast:
8	chr5:36670007..36672138-chr5:36689642..36692155,2	K562	blood:
9	chr5:36691466..36693215-chr5:36699062..36701158,2	K562	blood:
10	chr5:36414601..36415558-chr5:36689948..36691438,6	MCF-7	breast:
11	chr5:36690529..36693380-chr5:36876216..36878576,3	MCF-7	breast:
12	chr5:36405950..36408490-chr5:36690629..36693199,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000079215	chromatin interactions
ENSG00000164190	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1529461	chr5:36689363-36689364	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181376853	chr5:36689365-36689366	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554315671	chr5:36689392-36689393	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs140945607	chr5:36689447-36689448	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs6877808	chr5:36689476-36689477	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs28733099	chr5:36689524-36689525	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532029730	chr5:36689525-36689526	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544114228	chr5:36689531-36689532	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs73089453	chr5:36689541-36689542	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs529696522	chr5:36689596-36689597	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs7735657	chr5:36689597-36689598	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs566222527	chr5:36689602-36689603	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs74328836	chr5:36689658-36689659	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs201248684	chr5:36689659-36689660	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs79366813	chr5:36689660-36689661	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs527411753	chr5:36689674-36689675	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs551937099	chr5:36689679-36689680	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570327624	chr5:36689687-36689688	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs537720910	chr5:36689714-36689715	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs569585590	chr5:36689740-36689741	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs568319975	chr5:36689818-36689819	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs376804644	chr5:36689824-36689825	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs575809975	chr5:36689858-36689859	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs535829683	chr5:36689889-36689890	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554252676	chr5:36689931-36689932	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs572550571	chr5:36689948-36689949	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs144595346	chr5:36690083-36690084	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs558351659	chr5:36690086-36690087	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs545882193	chr5:36690093-36690094	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs116289244	chr5:36690120-36690121	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs551754331	chr5:36690124-36690125	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs571607151	chr5:36690136-36690137	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs534340739	chr5:36690183-36690184	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs543711084	chr5:36690262-36690263	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs562415651	chr5:36690268-36690269	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs567513102	chr5:36690292-36690293	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs56362130	chr5:36690323-36690324	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs374069248	chr5:36690361-36690362	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs115360461	chr5:36690367-36690368	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs116794705	chr5:36690368-36690369	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs184262448	chr5:36690371-36690372	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs146673704	chr5:36690408-36690409	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531539702	chr5:36690443-36690444	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs549748088	chr5:36690453-36690454	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs568339248	chr5:36690458-36690459	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs534695931	chr5:36690499-36690500	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs535413990	chr5:36690541-36690542	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs554195240	chr5:36690549-36690550	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs566097482	chr5:36690556-36690557	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs539915512	chr5:36690569-36690570	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
small cell lung cancer	20016488	CNVD
Schizophrenia	20838587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:473 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36655400-36690000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:36658200-36690000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:36659000-36689400	Weak transcription	Osteobl	bone
4	chr5:36662000-36690000	Weak transcription	Psoas Muscle	Psoas
5	chr5:36663000-36689600	Weak transcription	Fetal Brain Female	brain
6	chr5:36666000-36690000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:36668200-36690000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:36668600-36690000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:36671400-36690200	Weak transcription	Pancreas	Pancrea
10	chr5:36673600-36689400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:36673600-36689800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:36674200-36690000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:36674400-36689400	Weak transcription	HMEC	breast
14	chr5:36674400-36690000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:36677400-36690000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:36678000-36689400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:36678000-36690200	Weak transcription	Lung	lung
18	chr5:36679000-36690200	Weak transcription	Gastric	stomach
19	chr5:36680000-36690000	Weak transcription	Right Ventricle	heart
20	chr5:36680000-36690200	Weak transcription	Hela-S3	cervix
21	chr5:36682200-36690200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:36684200-36693200	Weak transcription	Spleen	Spleen
23	chr5:36684600-36689400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:36684600-36689400	Weak transcription	Brain Angular Gyrus	brain
25	chr5:36684600-36689400	Weak transcription	Esophagus	oesophagus
26	chr5:36684600-36689400	Weak transcription	NHLF	lung
27	chr5:36684600-36690000	Weak transcription	Fetal Brain Male	brain
28	chr5:36684800-36689600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr5:36685000-36689400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:36685000-36689400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:36685000-36689400	Weak transcription	Brain Anterior Caudate	brain
32	chr5:36685000-36690000	Weak transcription	Adipose Nuclei	Adipose
33	chr5:36685000-36690000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr5:36685000-36690000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr5:36685200-36689400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:36685200-36689400	Weak transcription	NHDF-Ad	bronchial
37	chr5:36685200-36690200	Weak transcription	HSMMtube	muscle
38	chr5:36685600-36689400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr5:36686000-36689400	Weak transcription	Primary B cells from cord blood	blood
40	chr5:36686000-36689600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:36686200-36689400	Weak transcription	Placenta	Placenta
42	chr5:36686400-36689400	Weak transcription	Fetal Lung	lung
43	chr5:36687200-36689400	Weak transcription	Left Ventricle	heart
44	chr5:36687200-36690000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr5:36687200-36690000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr5:36687400-36689400	Weak transcription	NH-A	brain
47	chr5:36687400-36689800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr5:36687400-36690000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:36687600-36689400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:36688600-36689800	Enhancers	Brain Substantia Nigra	brain

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