Variant report

Variant	nsv968167
Chromosome Location	chr5:37405093-37418064
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	chr5:37413185..37413702-chr5:37723532..37724165,2	MCF-7	breast:
2	chr17:61358570..61359089-chr5:37412803..37413392,2	MCF-7	breast:
3	chr5:37412852..37413708-chr5:37554717..37555628,3	MCF-7	breast:
4	chr5:37412800..37413850-chr5:37837177..37838175,5	MCF-7	breast:
5	chr5:37413110..37413637-chr5:37840070..37840640,2	MCF-7	breast:
6	chr5:37412825..37413381-chr5:37926629..37927147,2	MCF-7	breast:
7	chr5:37412768..37413768-chr5:38192655..38193859,13	MCF-7	breast:
8	chr5:37412738..37413377-chr5:38194610..38195311,2	MCF-7	breast:
9	chr5:37412794..37413863-chr5:38192922..38193865,5	K562	blood:
10	chr5:37402668..37405027-chr5:37408741..37410429,2	K562	blood:
11	chr5:37412806..37413850-chr5:37900474..37901433,3	MCF-7	breast:
12	chr5:37412788..37413557-chr5:38023669..38024455,2	MCF-7	breast:
13	chr5:37412783..37413436-chr5:37723453..37724202,2	K562	blood:
14	chr5:37412766..37413683-chr5:37757982..37759001,7	MCF-7	breast:
15	chr5:37395673..37397370-chr5:37410862..37413241,2	MCF-7	breast:
16	chr5:37402028..37404137-chr5:37405155..37406834,2	K562	blood:
17	chr5:37413098..37413750-chr5:37837537..37838115,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000248587	chromatin interactions

Extended variants
information (count: 481 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:481 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189033033	chr5:37405096-37405097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567237130	chr5:37405125-37405126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142059308	chr5:37405163-37405164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150729271	chr5:37405180-37405181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372054434	chr5:37405185-37405186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75469407	chr5:37405210-37405211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181750801	chr5:37405221-37405222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571514375	chr5:37405379-37405380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555939205	chr5:37405380-37405381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377150573	chr5:37405389-37405390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185514471	chr5:37405419-37405420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369451709	chr5:37405438-37405439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190278105	chr5:37405440-37405441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs55752936	chr5:37405476-37405477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186165994	chr5:37405478-37405479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554953982	chr5:37405554-37405555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566714372	chr5:37405617-37405618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7714939	chr5:37405655-37405656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7715310	chr5:37405669-37405670	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569728548	chr5:37405689-37405690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs16903610	chr5:37405715-37405716	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs577054411	chr5:37405843-37405844	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544415236	chr5:37405865-37405866	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556451144	chr5:37405946-37405947	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369817695	chr5:37405965-37405966	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375779443	chr5:37405991-37405992	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149838484	chr5:37406022-37406023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558312964	chr5:37406044-37406045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542116263	chr5:37406094-37406095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560977952	chr5:37406149-37406150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577943636	chr5:37406207-37406208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528089058	chr5:37406225-37406226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540357549	chr5:37406244-37406245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540493519	chr5:37406247-37406248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528485847	chr5:37406306-37406307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564958012	chr5:37406336-37406337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532211748	chr5:37406364-37406365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553763330	chr5:37406375-37406376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550774335	chr5:37406389-37406390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78552464	chr5:37406431-37406432	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs56379432	chr5:37406465-37406466	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140046792	chr5:37406529-37406530	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111694272	chr5:37406625-37406626	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571309226	chr5:37406628-37406629	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566577084	chr5:37406681-37406682	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543007927	chr5:37406719-37406720	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145594326	chr5:37406790-37406791	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190879287	chr5:37406812-37406813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12651717	chr5:37406815-37406816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147688292	chr5:37406818-37406819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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	21364760	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:377 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37379800-37434200	Weak transcription	Small Intestine	intestine
2	chr5:37379800-37444400	Weak transcription	Gastric	stomach
3	chr5:37380000-37405400	Weak transcription	Colon Smooth Muscle	Colon
4	chr5:37380000-37427800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:37380000-37428200	Weak transcription	Stomach Mucosa	stomach
6	chr5:37380000-37443400	Weak transcription	Colonic Mucosa	Colon
7	chr5:37380200-37420400	Weak transcription	NHDF-Ad	bronchial
8	chr5:37380200-37432600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:37380200-37435000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:37380200-37446800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:37380200-37446800	Weak transcription	Fetal Brain Male	brain
12	chr5:37380200-37451200	Weak transcription	Right Ventricle	heart
13	chr5:37380400-37434800	Weak transcription	NHLF	lung
14	chr5:37389800-37420000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:37390200-37428600	Weak transcription	HMEC	breast
16	chr5:37391000-37411600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr5:37391600-37406200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:37392200-37410600	Strong transcription	Adipose Nuclei	Adipose
19	chr5:37393200-37416800	Weak transcription	NHEK	skin
20	chr5:37393200-37419000	Weak transcription	HUVEC	blood vessel
21	chr5:37393200-37427200	Weak transcription	Esophagus	oesophagus
22	chr5:37393200-37451400	Weak transcription	Pancreas	Pancrea
23	chr5:37393400-37409600	Weak transcription	Aorta	Aorta
24	chr5:37394800-37431800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:37395000-37428800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:37395400-37447000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr5:37396200-37426000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr5:37396200-37429000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:37396400-37427200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:37396600-37424400	Weak transcription	Fetal Lung	lung
31	chr5:37396800-37405200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:37396800-37454600	Weak transcription	A549	lung
33	chr5:37397000-37405800	Weak transcription	Fetal Kidney	kidney
34	chr5:37397000-37407600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr5:37397000-37412600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr5:37397200-37405400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:37397200-37405600	Weak transcription	Brain Hippocampus Middle	brain
38	chr5:37397200-37405800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr5:37397200-37405800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr5:37397200-37405800	Weak transcription	Brain Substantia Nigra	brain
41	chr5:37397200-37405800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr5:37397200-37406400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:37397200-37416800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:37397200-37417400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:37397200-37417400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr5:37397200-37419000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr5:37397200-37425200	Weak transcription	Spleen	Spleen
48	chr5:37397200-37446600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr5:37397400-37405800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:37397400-37405800	Weak transcription	Osteobl	bone

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