Variant report

Variant	nsv527961
Chromosome Location	chr5:36781051-36828730
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:36806723..36808455-chr5:36815050..36816669,2	K562	blood:
2	chr5:36743974..36745923-chr5:36784208..36786489,2	MCF-7	breast:
3	chr5:36784826..36787307-chr5:36794561..36797174,2	K562	blood:
4	chr5:36813092..36814844-chr5:36832845..36834707,2	MCF-7	breast:
5	chr5:36825884..36828546-chr5:36876173..36877815,2	K562	blood:
6	chr5:36795024..36797633-chr5:36804153..36806253,2	K562	blood:
7	chr5:36777838..36780827-chr5:36781016..36782840,2	MCF-7	breast:
8	chr11:10689514..10690158-chr5:36806169..36807035,2	MCF-7	breast:
9	chr5:36784510..36787165-chr5:36804133..36806885,2	MCF-7	breast:
10	chr5:36795024..36797633-chr5:36804153..36806253,2	K562	blood:
11	chr5:36816507..36821779-chr5:36874934..36878012,5	K562	blood:
12	chr5:36756406..36758434-chr5:36801547..36803901,2	MCF-7	breast:
13	chr5:36828450..36830361-chr5:36837150..36839773,2	MCF-7	breast:
14	chr5:36741088..36745086-chr5:36779316..36782970,3	MCF-7	breast:
15	chr5:36816507..36818679-chr5:36875920..36877992,2	K562	blood:
16	chr5:36791798..36793386-chr5:36796897..36798791,2	K562	blood:
17	chr5:36784826..36787307-chr5:36794561..36797174,2	K562	blood:
18	chr5:36806723..36808455-chr5:36815050..36816669,2	K562	blood:
19	chr5:36784510..36787165-chr5:36804133..36806885,2	MCF-7	breast:
20	chr5:36791798..36793386-chr5:36796897..36798791,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164190	chromatin interactions

Extended variants
information (count: 790 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:790 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547596700	chr5:36786025-36786026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191847401	chr5:36786045-36786046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184062232	chr5:36786058-36786059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144015042	chr5:36786085-36786086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187380976	chr5:36786182-36786183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146872610	chr5:36786229-36786230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549521411	chr5:36786243-36786244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567777032	chr5:36786245-36786246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140641030	chr5:36786259-36786260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553574272	chr5:36786349-36786350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190595331	chr5:36786363-36786364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539324725	chr5:36786408-36786409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183192665	chr5:36786439-36786440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6899155	chr5:36786459-36786460	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs553469311	chr5:36786478-36786479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372027877	chr5:36786511-36786512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6877724	chr5:36786516-36786517	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs573713177	chr5:36786531-36786532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75422791	chr5:36786570-36786571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187076874	chr5:36786614-36786615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533031997	chr5:36786631-36786632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551716333	chr5:36786667-36786668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531974073	chr5:36786689-36786690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200577539	chr5:36786738-36786739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368895502	chr5:36786743-36786744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35135658	chr5:36786879-36786880	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs549435381	chr5:36786881-36786882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372125031	chr5:36786988-36786989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376740857	chr5:36787005-36787006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192977130	chr5:36787057-36787058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535169372	chr5:36787094-36787095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184160453	chr5:36787105-36787106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571817783	chr5:36787161-36787162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538908773	chr5:36787241-36787242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557252412	chr5:36787311-36787312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575558248	chr5:36787337-36787338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150487211	chr5:36787339-36787340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138257104	chr5:36787375-36787376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187942972	chr5:36787377-36787378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547569897	chr5:36787383-36787384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs58952013	chr5:36787464-36787465	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs193014474	chr5:36787477-36787478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530252866	chr5:36787528-36787529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550014860	chr5:36787573-36787574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184751452	chr5:36787615-36787616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368945589	chr5:36787625-36787626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35177590	chr5:36787657-36787658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545253255	chr5:36787658-36787659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs386403586	chr5:36787670-36787671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs60424955	chr5:36787671-36787672	Enhancers	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
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36786000-36788000	Enhancers	Duodenum Mucosa	Duodenum
2	chr5:36786000-36789600	Enhancers	Stomach Mucosa	stomach
3	chr5:36786000-36790000	Enhancers	Fetal Intestine Small	intestine
4	chr5:36786200-36787000	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr5:36786200-36787800	Enhancers	Fetal Intestine Large	intestine
6	chr5:36786600-36789800	Enhancers	Liver	Liver
7	chr5:36786600-36789800	Enhancers	HepG2	liver
8	chr5:36786800-36787600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:36787800-36788600	Weak transcription	Fetal Intestine Large	intestine
10	chr5:36788000-36788400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr5:36788400-36789400	Enhancers	Duodenum Mucosa	Duodenum
12	chr5:36788600-36790000	Enhancers	Fetal Intestine Large	intestine
13	chr5:36789600-36790000	Enhancers	Psoas Muscle	Psoas
14	chr5:36790000-36791000	Weak transcription	Psoas Muscle	Psoas
15	chr5:36790800-36791000	Enhancers	HSMMtube	muscle
16	chr5:36791000-36791400	Enhancers	Fetal Muscle Leg	muscle
17	chr5:36791000-36791800	Enhancers	Psoas Muscle	Psoas
18	chr5:36791000-36792400	Weak transcription	HSMMtube	muscle
19	chr5:36791400-36795800	Weak transcription	Fetal Muscle Leg	muscle
20	chr5:36791800-36792800	Weak transcription	Psoas Muscle	Psoas
21	chr5:36792400-36793000	Enhancers	HSMMtube	muscle
22	chr5:36792600-36793000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr5:36792800-36793000	Enhancers	Psoas Muscle	Psoas
24	chr5:36792800-36793800	Enhancers	Ovary	ovary
25	chr5:36793000-36793600	Weak transcription	Psoas Muscle	Psoas
26	chr5:36793600-36793800	Enhancers	Psoas Muscle	Psoas
27	chr5:36793800-36796400	Weak transcription	Psoas Muscle	Psoas
28	chr5:36795000-36797400	Enhancers	HSMMtube	muscle
29	chr5:36795800-36797200	Enhancers	Fetal Muscle Leg	muscle
30	chr5:36796400-36796800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:36796400-36796800	Flanking Bivalent TSS/Enh	Hela-S3	cervix
32	chr5:36796800-36797200	Enhancers	H9 Cell Line	embryonic stem cell
33	chr5:36796800-36797200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr5:36797000-36797400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr5:36797000-36797400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr5:36797200-36799800	Weak transcription	Fetal Muscle Leg	muscle
37	chr5:36799800-36800400	Enhancers	Fetal Muscle Leg	muscle
38	chr5:36816000-36816400	Enhancers	K562	blood
39	chr5:36816400-36821000	Weak transcription	K562	blood
40	chr5:36821000-36821200	Enhancers	K562	blood
41	chr5:36825800-36826400	Enhancers	Fetal Heart	heart

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