Variant report

Variant	nsv830264
Chromosome Location	chr5:36887002-36941494
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:67)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:67 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:36894674..36897624-chr5:36903658..36906079,2	K562	blood:
2	chr5:36876319..36879960-chr5:36897656..36900567,3	K562	blood:
3	chr5:36875949..36878043-chr5:36936778..36939206,2	MCF-7	breast:
4	chr5:36875178..36878850-chr5:36908740..36913582,7	MCF-7	breast:
5	chr5:36926669..36929078-chr5:36937999..36941125,3	MCF-7	breast:
6	chr5:36932364..36935161-chr5:36941200..36944542,3	K562	blood:
7	chr5:36899113..36901720-chr5:36902343..36906558,3	MCF-7	breast:
8	chr5:36931581..36933729-chr5:36940700..36943226,2	MCF-7	breast:
9	chr5:36728405..36730840-chr5:36886021..36888598,2	MCF-7	breast:
10	chr5:36932364..36935161-chr5:36941200..36943809,2	K562	blood:
11	chr5:36887613..36889354-chr5:36924858..36926395,2	MCF-7	breast:
12	chr5:36926669..36929078-chr5:36937999..36941125,3	MCF-7	breast:
13	chr5:36876634..36880507-chr5:36935586..36937738,3	MCF-7	breast:
14	chr5:36919106..36920877-chr5:36923697..36925234,2	K562	blood:
15	chr5:36932364..36935161-chr5:36941200..36943809,2	K562	blood:
16	chr5:36919106..36922235-chr5:36923697..36927353,5	K562	blood:
17	chr5:36876013..36877859-chr5:36897523..36900739,3	K562	blood:
18	chr5:36906209..36908902-chr5:36936450..36938338,2	K562	blood:
19	chr5:36878820..36881398-chr5:36921398..36924147,2	K562	blood:
20	chr5:36877627..36879271-chr5:36903588..36906365,2	MCF-7	breast:
21	chr5:36937263..36939579-chr5:36939659..36941382,2	MCF-7	breast:
22	chr5:36876484..36879168-chr5:36940218..36943816,3	MCF-7	breast:
23	chr5:36873234..36875731-chr5:36921521..36923722,2	K562	blood:
24	chr5:36906209..36908902-chr5:36936450..36938338,2	K562	blood:
25	chr5:36887613..36889354-chr5:36924858..36926395,2	MCF-7	breast:
26	chr5:36910124..36911692-chr5:36912890..36915128,2	K562	blood:
27	chr5:36875507..36877384-chr5:36931274..36933956,2	MCF-7	breast:
28	chr5:36908573..36910125-chr5:36910550..36913083,2	MCF-7	breast:
29	chr5:36937606..36940951-chr5:36941936..36944746,3	K562	blood:
30	chr5:36876236..36879150-chr5:36911680..36913853,2	MCF-7	breast:
31	chr5:36899113..36901720-chr5:36902343..36906558,3	MCF-7	breast:
32	chr5:36910368..36911914-chr5:36922337..36924698,2	MCF-7	breast:
33	chr5:36876394..36879869-chr5:36897749..36901250,6	MCF-7	breast:
34	chr5:36875094..36878175-chr5:36930328..36933229,3	MCF-7	breast:
35	chr5:36908573..36910125-chr5:36910550..36913083,2	MCF-7	breast:
36	chr5:36891948..36893628-chr5:36897697..36899677,2	K562	blood:
37	chr5:36877699..36879526-chr5:36890759..36893139,2	MCF-7	breast:
38	chr5:36874459..36876976-chr5:36936493..36938823,2	K562	blood:
39	chr5:36888811..36890696-chr5:36892108..36894974,2	K562	blood:
40	chr5:36876233..36877782-chr5:36895355..36898025,2	MCF-7	breast:
41	chr5:36874203..36876610-chr5:36934732..36937213,2	MCF-7	breast:
42	chr5:36881285..36883569-chr5:36896456..36898499,2	K562	blood:
43	chr5:36920129..36922816-chr5:36925625..36927920,2	MCF-7	breast:
44	chr5:36888811..36890696-chr5:36892108..36894974,2	K562	blood:
45	chr5:36874693..36876712-chr5:36894953..36896945,2	K562	blood:
46	chr5:36920129..36922816-chr5:36925625..36927920,2	MCF-7	breast:
47	chr5:36910368..36911914-chr5:36922337..36924698,2	MCF-7	breast:
48	chr5:36876398..36879013-chr5:36886021..36888865,3	MCF-7	breast:
49	chr5:36919106..36920877-chr5:36923697..36925234,2	K562	blood:
50	chr5:36935171..36938055-chr5:36942349..36945199,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC1A3-1	chr5:36907214-36907754	l_2904_chr5:36907213-36912362_kidney
2	lnc-SLC1A3-1	chr5:36910492-36912362	l_2904_chr5:36907213-36912362_kidney

No data

Variant related genes	Relation type
ENSG00000164190	chromatin interactions
ENSG00000249850	chromatin interactions

Extended variants
information (count: 1870 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1870 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577318405	chr5:36887027-36887028	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs536706796	chr5:36887054-36887055	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs111647338	chr5:36887074-36887075	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs375671469	chr5:36887089-36887090	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566523948	chr5:36887109-36887110	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs202016562	chr5:36887114-36887115	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs533917801	chr5:36887156-36887157	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531563734	chr5:36887198-36887199	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs570690264	chr5:36887210-36887211	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs187952216	chr5:36887229-36887230	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs192009257	chr5:36887313-36887314	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs553439304	chr5:36887353-36887354	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs574698815	chr5:36887388-36887389	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs541811891	chr5:36887394-36887395	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs139807317	chr5:36887563-36887564	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs184463674	chr5:36887567-36887568	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs187862062	chr5:36887604-36887605	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs192915182	chr5:36887606-36887607	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs564317654	chr5:36887633-36887634	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576592844	chr5:36887663-36887664	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs116215185	chr5:36887691-36887692	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs184131825	chr5:36887722-36887723	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs143214323	chr5:36887774-36887775	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs548201390	chr5:36887810-36887811	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs566722408	chr5:36887854-36887855	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs158622	chr5:36887895-36887896	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs189408832	chr5:36887899-36887900	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs552337678	chr5:36887903-36887904	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs181064155	chr5:36887905-36887906	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs537617703	chr5:36887909-36887910	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs528252168	chr5:36887916-36887917	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs144378391	chr5:36887926-36887927	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs568224205	chr5:36887957-36887958	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs535781449	chr5:36888007-36888008	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs558713226	chr5:36888036-36888037	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs148806324	chr5:36888045-36888046	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs549764977	chr5:36888048-36888049	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs572134521	chr5:36888084-36888085	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372405487	chr5:36888123-36888124	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs542041830	chr5:36888129-36888130	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs539529645	chr5:36888148-36888149	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs184827730	chr5:36888169-36888170	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs561561592	chr5:36888176-36888177	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs530688457	chr5:36888183-36888184	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs543602942	chr5:36888255-36888256	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs568160950	chr5:36888272-36888273	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs529139610	chr5:36888276-36888277	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs374696954	chr5:36888305-36888306	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs142469051	chr5:36888314-36888315	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs574251798	chr5:36888328-36888329	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
Breast cancer	22522925	CNVD

Chromatin state (count:1150 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36879200-36889400	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr5:36879400-36887400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:36879600-36889400	Weak transcription	HSMMtube	muscle
4	chr5:36879800-36891400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:36880000-36889000	Weak transcription	Brain Anterior Caudate	brain
6	chr5:36880000-36891200	Weak transcription	Fetal Brain Female	brain
7	chr5:36880000-36897400	Weak transcription	NHLF	lung
8	chr5:36880400-36897800	Weak transcription	HUVEC	blood vessel
9	chr5:36881000-36899800	Weak transcription	Brain Substantia Nigra	brain
10	chr5:36881000-36900600	Weak transcription	Osteobl	bone
11	chr5:36881200-36887400	Weak transcription	HMEC	breast
12	chr5:36881200-36890600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:36881200-36892400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:36881200-36900400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:36881400-36897400	Weak transcription	NHDF-Ad	bronchial
16	chr5:36881600-36887200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:36881800-36895400	Weak transcription	Fetal Kidney	kidney
18	chr5:36882400-36899800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:36882600-36887600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:36882800-36891400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:36883000-36887400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:36883200-36887400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr5:36883400-36887400	Weak transcription	Colon Smooth Muscle	Colon
24	chr5:36884000-36892000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr5:36884200-36889600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr5:36884600-36897200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:36884800-36887800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:36885000-36899200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:36885400-36888000	Enhancers	Liver	Liver
30	chr5:36885600-36888400	Enhancers	Fetal Heart	heart
31	chr5:36885800-36890800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr5:36885800-36890800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:36886000-36887400	Weak transcription	Stomach Mucosa	stomach
34	chr5:36886000-36887600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr5:36886000-36888400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr5:36886000-36894800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr5:36886200-36887400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:36886200-36887400	Weak transcription	Brain Hippocampus Middle	brain
39	chr5:36886200-36887400	Weak transcription	K562	blood
40	chr5:36886200-36887800	Weak transcription	Brain Germinal Matrix	brain
41	chr5:36886200-36889600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr5:36886200-36889800	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr5:36886200-36891400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr5:36886200-36891400	Weak transcription	Aorta	Aorta
45	chr5:36886200-36891400	Weak transcription	HSMM	muscle
46	chr5:36886200-36893200	Weak transcription	Placenta	Placenta
47	chr5:36886200-36893400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr5:36886200-36893400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr5:36886200-36893600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:36886200-36894800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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