Variant report

Variant	nsv518320
Chromosome Location	chr14:73023436-73032103
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:73023174..73024081-chr14:73371048..73371770,2	MCF-7	breast:
2	chr14:73023153..73024787-chr14:73028101..73030351,2	K562	blood:
3	chr14:73027080..73029915-chr14:73030581..73032149,2	MCF-7	breast:
4	chr14:73021238..73023214-chr14:73030820..73033592,2	MCF-7	breast:
5	chr14:73029014..73031755-chr14:73034967..73036841,2	K562	blood:
6	chr14:73023153..73024787-chr14:73028101..73030351,2	K562	blood:
7	chr14:73027080..73029915-chr14:73030581..73032149,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS6-2	chr14:73030783-73033233	NONHSAT037652

No data

Extended variants
information (count: 421 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8005548	chr14:73023436-73023437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564871024	chr14:73023475-73023476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530430369	chr14:73023507-73023508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532283862	chr14:73023514-73023515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189343000	chr14:73023532-73023533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142662493	chr14:73023553-73023554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs180889958	chr14:73023555-73023556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531157920	chr14:73023576-73023577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7141877	chr14:73023657-73023658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs567958646	chr14:73023681-73023682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17117446	chr14:73023722-73023723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs55889235	chr14:73023766-73023767	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs537625381	chr14:73023793-73023794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538784943	chr14:73023794-73023795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557053560	chr14:73023807-73023808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575298930	chr14:73023837-73023838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146073247	chr14:73023846-73023847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545719745	chr14:73023860-73023861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566837556	chr14:73023861-73023862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554418643	chr14:73023873-73023874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12434785	chr14:73023875-73023876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs139689769	chr14:73023888-73023889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76301972	chr14:73023910-73023911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576885265	chr14:73023918-73023919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530826177	chr14:73023938-73023939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376009752	chr14:73023939-73023940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34903529	chr14:73023940-73023941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs55681583	chr14:73023941-73023942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544200665	chr14:73023995-73023996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185588158	chr14:73023996-73023997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7146783	chr14:73024003-73024004	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs549558404	chr14:73024056-73024057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575752194	chr14:73024057-73024058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367957786	chr14:73024064-73024065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561323579	chr14:73024065-73024066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528824279	chr14:73024108-73024109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546876082	chr14:73024114-73024115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571337409	chr14:73024131-73024132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561251432	chr14:73024132-73024133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538662714	chr14:73024152-73024153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377618907	chr14:73024154-73024155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10144375	chr14:73024155-73024156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190046728	chr14:73024243-73024244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs763732	chr14:73024252-73024253	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs723943	chr14:73024299-73024300	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs572936003	chr14:73024306-73024307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs59131418	chr14:73024364-73024365	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs558914348	chr14:73024365-73024366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560328729	chr14:73024370-73024371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182414360	chr14:73024403-73024404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Biliary cancer	19435499	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	16608533	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:208 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:73012000-73025200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:73012200-73025600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:73012400-73032000	Weak transcription	Brain Germinal Matrix	brain
4	chr14:73013800-73025000	Weak transcription	Fetal Brain Female	brain
5	chr14:73014800-73026200	Weak transcription	Right Ventricle	heart
6	chr14:73017200-73025000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:73020000-73025200	Weak transcription	Brain Anterior Caudate	brain
8	chr14:73020000-73025200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:73020200-73024400	Weak transcription	NH-A	brain
10	chr14:73020200-73025200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:73020200-73025600	Weak transcription	Brain Angular Gyrus	brain
12	chr14:73020400-73024000	Weak transcription	HSMM	muscle
13	chr14:73020400-73025200	Weak transcription	Brain Substantia Nigra	brain
14	chr14:73020600-73025000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:73020800-73024800	Weak transcription	Osteobl	bone
16	chr14:73020800-73025000	Weak transcription	Ovary	ovary
17	chr14:73020800-73025200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:73021000-73024000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:73021200-73025000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:73021200-73025200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr14:73021200-73025400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:73021200-73025600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:73021200-73025800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:73021200-73026000	Weak transcription	Fetal Heart	heart
25	chr14:73021400-73024000	Weak transcription	HSMMtube	muscle
26	chr14:73021400-73025200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr14:73021400-73025600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr14:73021400-73025600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr14:73021600-73025000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr14:73021600-73025000	Weak transcription	Psoas Muscle	Psoas
31	chr14:73021600-73025000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr14:73021800-73024200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:73021800-73024200	Weak transcription	Fetal Brain Male	brain
34	chr14:73021800-73025000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:73021800-73025000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr14:73021800-73025800	Weak transcription	Aorta	Aorta
37	chr14:73022400-73024400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr14:73023200-73025000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:73023800-73024400	Weak transcription	NHLF	lung
40	chr14:73024000-73024200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:73024000-73025400	Enhancers	HMEC	breast
42	chr14:73024000-73025800	Enhancers	HSMM	muscle
43	chr14:73024000-73025800	Enhancers	HSMMtube	muscle
44	chr14:73024000-73027200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr14:73024200-73025000	Enhancers	NHEK	skin
46	chr14:73024200-73025200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:73024200-73025400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:73024200-73025600	Enhancers	Fetal Brain Male	brain
49	chr14:73024200-73027400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:73024200-73027400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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