Variant report

Variant	nsv520241
Chromosome Location	chr14:78623134-78634174
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	chr14:78629719..78632310-chr14:78635472..78637600,2	K562	blood:
2	chr14:78630320..78630924-chr14:79163432..79164245,2	MCF-7	breast:
3	chr14:78614052..78615678-chr14:78620676..78623543,2	K562	blood:
4	chr14:78618637..78620285-chr14:78622605..78625562,2	K562	blood:
5	chr14:78488090..78488730-chr14:78630706..78631207,2	MCF-7	breast:
6	chr14:78630297..78631161-chr14:79032243..79033558,5	MCF-7	breast:
7	chr14:78630303..78630829-chr14:79062175..79062814,2	MCF-7	breast:
8	chr14:78634011..78634749-chr14:79064036..79064558,2	MCF-7	breast:

No data

Extended variants
information (count: 389 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10483892	chr14:78623134-78623135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534352339	chr14:78623141-78623142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535086622	chr14:78623231-78623232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558014389	chr14:78623240-78623241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79543118	chr14:78623247-78623248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189577120	chr14:78623313-78623314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75955967	chr14:78623387-78623388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553170514	chr14:78623438-78623439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181889020	chr14:78623450-78623451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73316342	chr14:78623451-78623452	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs555601111	chr14:78623471-78623472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61975961	chr14:78623532-78623533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373153317	chr14:78623535-78623536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538848753	chr14:78623563-78623564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112972025	chr14:78623670-78623671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546835477	chr14:78623676-78623677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571508167	chr14:78623707-78623708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117256983	chr14:78623716-78623717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs118134935	chr14:78623746-78623747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564797979	chr14:78623763-78623764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189163203	chr14:78623795-78623796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569602563	chr14:78623815-78623816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544135458	chr14:78623841-78623842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116073728	chr14:78623873-78623874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568007162	chr14:78623881-78623882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181606215	chr14:78623955-78623956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs67657962	chr14:78623960-78623961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565669620	chr14:78624011-78624012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78646954	chr14:78624017-78624018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528083980	chr14:78624027-78624028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76887042	chr14:78624032-78624033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571227781	chr14:78624034-78624035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117920282	chr14:78624057-78624058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556854063	chr14:78624168-78624169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374700289	chr14:78624245-78624246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186374300	chr14:78624247-78624248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140378458	chr14:78624262-78624263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145561797	chr14:78624283-78624284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555814821	chr14:78624291-78624292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189797863	chr14:78624360-78624361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541517399	chr14:78624376-78624377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557825818	chr14:78624384-78624385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs72681708	chr14:78624418-78624419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564828141	chr14:78624495-78624496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544098973	chr14:78624502-78624503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553165020	chr14:78624528-78624529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532276658	chr14:78624562-78624563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563996890	chr14:78624575-78624576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529491730	chr14:78624576-78624577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73316345	chr14:78624596-78624597	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:73)

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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22209245	CNVD
Prostate cancer	22553170	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78619200-78623800	Weak transcription	Brain Hippocampus Middle	brain
2	chr14:78619800-78623400	Weak transcription	Brain Germinal Matrix	brain
3	chr14:78623400-78624600	Enhancers	Brain Germinal Matrix	brain
4	chr14:78623800-78624400	Enhancers	Brain Hippocampus Middle	brain
5	chr14:78624000-78624400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr14:78624000-78624400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr14:78624600-78635800	Weak transcription	Brain Germinal Matrix	brain
8	chr14:78628400-78628600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:78628400-78628600	Bivalent/Poised TSS	NHEK	skin
10	chr14:78628400-78629000	Enhancers	NH-A	brain
11	chr14:78628600-78628800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:78628600-78630200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:78628800-78629800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:78629800-78632400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:78630000-78630400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr14:78630000-78630800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:78630200-78630800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:78630200-78631000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr14:78630200-78631000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr14:78630200-78631000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:78630400-78630600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:78630600-78630800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr14:78630800-78636400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:78630800-78636800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:78631000-78635800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:78631000-78636400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:78631000-78636400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr14:78632400-78636800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links