Variant report

Variant	nsv977623
Chromosome Location	chr14:73020406-73026359
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:73021238..73023214-chr14:73030820..73033592,2	MCF-7	breast:
2	chr14:73016000..73018976-chr14:73019130..73021543,2	K562	blood:
3	chr14:73016052..73018355-chr14:73018682..73020978,2	MCF-7	breast:
4	chr14:73023174..73024081-chr14:73371048..73371770,2	MCF-7	breast:
5	chr14:72983547..72984254-chr14:73021487..73022165,2	MCF-7	breast:
6	chr14:73022017..73022595-chr14:73371355..73372171,3	MCF-7	breast:
7	chr14:73021625..73022510-chr14:73371578..73372237,2	MCF-7	breast:
8	chr14:73023153..73024787-chr14:73028101..73030351,2	K562	blood:

No data

Extended variants
information (count: 287 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28533161	chr14:73020411-73020412	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs112237304	chr14:73020423-73020424	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs17117377	chr14:73020452-73020453	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs530373640	chr14:73020496-73020497	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs80160535	chr14:73020512-73020513	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs560570312	chr14:73020520-73020521	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs553795896	chr14:73020571-73020572	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs527663369	chr14:73020583-73020584	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs552518375	chr14:73020594-73020595	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs570975608	chr14:73020620-73020621	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs577410595	chr14:73020668-73020669	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs571690079	chr14:73020717-73020718	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs2239281	chr14:73020753-73020754	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	mRNA abundance
14	rs568249546	chr14:73020794-73020795	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs146539825	chr14:73020823-73020824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553758730	chr14:73020827-73020828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565936889	chr14:73020838-73020839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539077732	chr14:73020843-73020844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377558344	chr14:73020880-73020881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183034419	chr14:73020921-73020922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185428564	chr14:73020931-73020932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556381716	chr14:73020948-73020949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574919151	chr14:73021044-73021045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542539157	chr14:73021079-73021080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371916222	chr14:73021088-73021089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560647500	chr14:73021126-73021127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553199398	chr14:73021132-73021133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545890283	chr14:73021133-73021134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190680215	chr14:73021158-73021159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148285005	chr14:73021161-73021162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61579728	chr14:73021167-73021168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531880020	chr14:73021184-73021185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550281341	chr14:73021192-73021193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182804366	chr14:73021204-73021205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575769789	chr14:73021305-73021306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs8013120	chr14:73021336-73021337	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs543159727	chr14:73021340-73021341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565845125	chr14:73021369-73021370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539672525	chr14:73021394-73021395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557377207	chr14:73021395-73021396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544318448	chr14:73021414-73021415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113500426	chr14:73021425-73021426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555023595	chr14:73021448-73021449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560829348	chr14:73021514-73021515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140094266	chr14:73021541-73021542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142332784	chr14:73021543-73021544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187890734	chr14:73021549-73021550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546517721	chr14:73021574-73021575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574171056	chr14:73021577-73021578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564505558	chr14:73021599-73021600	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
Medulloblastoma	21163964	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

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	chr14:73016000-73021600	Weak transcription	Spleen	Spleen
7	chr14:73016400-73020800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr14:73016600-73021400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:73016800-73020800	Weak transcription	Psoas Muscle	Psoas
10	chr14:73017200-73025000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:73018600-73021200	Enhancers	Fetal Heart	heart
12	chr14:73019000-73020600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:73019000-73021000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr14:73019200-73021400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:73019200-73021400	Enhancers	Fetal Stomach	stomach
16	chr14:73019400-73020800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:73019600-73020600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr14:73019600-73020800	Enhancers	Ovary	ovary
19	chr14:73019600-73020800	Enhancers	NHLF	lung
20	chr14:73019600-73021800	Enhancers	Brain Hippocampus Middle	brain
21	chr14:73019600-73021800	Enhancers	Fetal Muscle Leg	muscle
22	chr14:73019800-73020600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:73019800-73020600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:73019800-73020800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:73020000-73020600	Enhancers	Fetal Lung	lung
26	chr14:73020000-73020800	Enhancers	Osteobl	bone
27	chr14:73020000-73021000	Weak transcription	HSMMtube	muscle
28	chr14:73020000-73021200	Weak transcription	Fetal Brain Male	brain
29	chr14:73020000-73021800	Enhancers	Aorta	Aorta
30	chr14:73020000-73025200	Weak transcription	Brain Anterior Caudate	brain
31	chr14:73020000-73025200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr14:73020200-73024400	Weak transcription	NH-A	brain
33	chr14:73020200-73025200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr14:73020200-73025600	Weak transcription	Brain Angular Gyrus	brain
35	chr14:73020400-73020600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:73020400-73021200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr14:73020400-73021200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr14:73020400-73021200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr14:73020400-73021400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr14:73020400-73021400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr14:73020400-73021600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr14:73020400-73024000	Weak transcription	HSMM	muscle
43	chr14:73020400-73025200	Weak transcription	Brain Substantia Nigra	brain
44	chr14:73020600-73020800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:73020600-73021000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:73020600-73021200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr14:73020600-73021200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr14:73020600-73021600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr14:73020600-73025000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:73020800-73021000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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