Variant report

Variant	nsv880502
Chromosome Location	chr5:37002638-37023898
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:36743568..36746318-chr5:37004430..37006314,2	MCF-7	breast:
2	chr5:37009245..37010939-chr5:37023761..37025926,2	K562	blood:
3	chr5:36738583..36742028-chr5:37005460..37008682,3	K562	blood:
4	chr5:37014667..37016465-chr5:37026836..37029191,2	K562	blood:
5	chr5:37009245..37010939-chr5:37023761..37025926,2	K562	blood:
6	chr5:36743906..36746722-chr5:37004914..37007847,3	MCF-7	breast:
7	chr5:37015380..37017502-chr5:37021890..37025377,3	K562	blood:
8	chr5:36744657..36745458-chr5:37006187..37006735,2	MCF-7	breast:
9	chr5:37014427..37017404-chr5:37017872..37020445,3	K562	blood:
10	chr5:36980854..36983652-chr5:37007051..37009220,2	K562	blood:
11	chr5:36728670..36729725-chr5:37005785..37006901,3	MCF-7	breast:
12	chr5:36265612..36266113-chr5:37006206..37006706,2	K562	blood:
13	chr5:36876258..36877822-chr5:37004568..37007487,2	MCF-7	breast:
14	chr5:36740003..36742433-chr5:37003090..37005628,2	MCF-7	breast:
15	chr5:36994814..36997179-chr5:37008885..37010934,2	K562	blood:
16	chr5:37014427..37017404-chr5:37017872..37020445,3	K562	blood:
17	chr5:37015380..37017502-chr5:37021890..37025377,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164190	chromatin interactions

Extended variants
information (count: 791 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:791 , 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	rs6876156	chr5:37002638-37002639	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542386259	chr5:37002648-37002649	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112620184	chr5:37002653-37002654	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73093870	chr5:37002666-37002667	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs535137604	chr5:37002732-37002733	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371007362	chr5:37002750-37002751	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200744764	chr5:37002754-37002755	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs121918268	chr5:37002836-37002837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367616618	chr5:37002882-37002883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372868902	chr5:37002895-37002896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149115930	chr5:37002901-37002902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190984466	chr5:37002935-37002936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538614289	chr5:37002995-37002996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376150811	chr5:37003000-37003001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181650157	chr5:37003044-37003045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371536615	chr5:37003112-37003113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186684653	chr5:37003114-37003115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550322483	chr5:37003115-37003116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562590457	chr5:37003124-37003125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74973351	chr5:37003189-37003190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558567520	chr5:37003250-37003251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374455223	chr5:37003313-37003314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191989219	chr5:37003318-37003319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367763532	chr5:37003331-37003332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370711208	chr5:37003342-37003343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139137985	chr5:37003434-37003435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143152112	chr5:37003445-37003446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs80358378	chr5:37003454-37003455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575836764	chr5:37003485-37003486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533977344	chr5:37003491-37003492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62654860	chr5:37003501-37003502	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs115427786	chr5:37003522-37003523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538220970	chr5:37003536-37003537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556309441	chr5:37003547-37003548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112112541	chr5:37003566-37003567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78562347	chr5:37003625-37003626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375679489	chr5:37003665-37003666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138671560	chr5:37003703-37003704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182985459	chr5:37003730-37003731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141589808	chr5:37003773-37003774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546010436	chr5:37003779-37003780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533649034	chr5:37003786-37003787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202087006	chr5:37003799-37003800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188414822	chr5:37003821-37003822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372603055	chr5:37003834-37003835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189678265	chr5:37003851-37003852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562394100	chr5:37003889-37003890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529790216	chr5:37003946-37003947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541909295	chr5:37003973-37003974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560308746	chr5:37003985-37003986	Weak transcription Strong 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
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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:629 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36949600-37086800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:36951400-37004400	Weak transcription	Right Ventricle	heart
3	chr5:36954400-37026400	Weak transcription	Pancreas	Pancrea
4	chr5:36954800-37023600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:36955400-37010400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:36962400-37028400	Weak transcription	Spleen	Spleen
7	chr5:36965800-37018600	Weak transcription	Psoas Muscle	Psoas
8	chr5:36968800-37031200	Weak transcription	Aorta	Aorta
9	chr5:36969800-37065000	Weak transcription	Stomach Mucosa	stomach
10	chr5:36972600-37019200	Weak transcription	Brain Angular Gyrus	brain
11	chr5:36976400-37010600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:36976600-37008800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:36976600-37019200	Weak transcription	NHLF	lung
14	chr5:36976600-37022800	Weak transcription	Fetal Brain Male	brain
15	chr5:36977000-37003400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr5:36978000-37004400	Weak transcription	Fetal Intestine Small	intestine
17	chr5:36978200-37004200	Weak transcription	Fetal Brain Female	brain
18	chr5:36979800-37057800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:36985400-37008800	Weak transcription	Brain Germinal Matrix	brain
20	chr5:36986000-37004400	Weak transcription	Fetal Stomach	stomach
21	chr5:36986000-37006400	Weak transcription	NHEK	skin
22	chr5:36986200-37015400	Weak transcription	Colonic Mucosa	Colon
23	chr5:36986200-37015600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:36991000-37012400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr5:36991000-37064600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:36992200-37013000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:36993000-37011800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr5:36993200-37011800	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr5:36993800-37005200	Strong transcription	Primary B cells from peripheral blood	blood
30	chr5:36994000-37011800	Strong transcription	Dnd41	blood
31	chr5:36994600-37011600	Strong transcription	Placenta	Placenta
32	chr5:36994600-37013200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:36995000-37005000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:36995000-37005200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:36995000-37006000	Strong transcription	Primary B cells from cord blood	blood
36	chr5:36995000-37011600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:36995000-37011600	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr5:36995000-37011800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:36995000-37011800	Strong transcription	Adipose Nuclei	Adipose
40	chr5:36995000-37011800	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr5:36995000-37012400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:36995200-37011800	Strong transcription	HSMM	muscle
43	chr5:36995800-37011000	Strong transcription	GM12878-XiMat	blood
44	chr5:36995800-37011600	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr5:36995800-37011600	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr5:36995800-37011600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr5:36995800-37013200	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr5:36996000-37004800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:36996000-37009600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr5:36996200-37004800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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