Variant report

Variant	nsv524441
Chromosome Location	chr14:67103579-67108070
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67096231..67098087-chr14:67103759..67105557,2	MCF-7	breast:
2	chr14:66973750..66975677-chr14:67108046..67110117,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171723	chromatin interactions

Extended variants
information (count: 167 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7149265	chr14:67103579-67103580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs80243121	chr14:67103587-67103588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188299754	chr14:67103610-67103611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537850797	chr14:67103642-67103643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556476259	chr14:67103672-67103673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376947936	chr14:67103673-67103674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544107660	chr14:67103720-67103721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72726433	chr14:67103721-67103722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs34227682	chr14:67103774-67103775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76107460	chr14:67103864-67103865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146671575	chr14:67103906-67103907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112365914	chr14:67103937-67103938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140214530	chr14:67103961-67103962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72726434	chr14:67103967-67103968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs568874395	chr14:67103974-67103975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543570922	chr14:67103995-67103996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143908346	chr14:67104013-67104014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193058044	chr14:67104014-67104015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201429948	chr14:67104074-67104075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs36072039	chr14:67104149-67104150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146864042	chr14:67104176-67104177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540058126	chr14:67104181-67104182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554330029	chr14:67104233-67104234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184843813	chr14:67104242-67104243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563587394	chr14:67104251-67104252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148993270	chr14:67104255-67104256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376652822	chr14:67104277-67104278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143757911	chr14:67104300-67104301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115376976	chr14:67104305-67104306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9806103	chr14:67104311-67104312	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs564614903	chr14:67104391-67104392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576717859	chr14:67104394-67104395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188484797	chr14:67104402-67104403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181059215	chr14:67104417-67104418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564434417	chr14:67104466-67104467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72726438	chr14:67104481-67104482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs114246895	chr14:67104558-67104559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560112439	chr14:67104559-67104560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117089835	chr14:67104572-67104573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549109453	chr14:67104587-67104588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562566908	chr14:67104666-67104667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549903899	chr14:67104724-67104725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529654808	chr14:67104826-67104827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547850575	chr14:67104864-67104865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs8017881	chr14:67104939-67104940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs551379883	chr14:67104947-67104948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571187226	chr14:67104949-67104950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539762853	chr14:67105017-67105018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527476278	chr14:67105051-67105052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547222958	chr14:67105057-67105058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	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	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	22495309	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67087000-67106800	Weak transcription	Gastric	stomach
2	chr14:67087200-67110000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:67095400-67116600	Weak transcription	Brain Substantia Nigra	brain
4	chr14:67095800-67112000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:67101400-67105000	Weak transcription	Right Atrium	heart
6	chr14:67101400-67119600	Weak transcription	Aorta	Aorta
7	chr14:67101800-67109800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:67102000-67107800	Weak transcription	Psoas Muscle	Psoas
9	chr14:67102000-67110200	Weak transcription	Liver	Liver
10	chr14:67102000-67119400	Weak transcription	Pancreas	Pancrea
11	chr14:67102200-67105000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:67102600-67105000	Weak transcription	HUVEC	blood vessel
13	chr14:67105000-67105800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:67105000-67105800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:67105000-67106200	Enhancers	HUVEC	blood vessel
16	chr14:67105200-67105800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr14:67105200-67105800	Enhancers	HMEC	breast
18	chr14:67105200-67105800	Enhancers	NHEK	skin
19	chr14:67105400-67105800	Enhancers	A549	lung
20	chr14:67105600-67105800	Enhancers	HSMM	muscle
21	chr14:67105600-67106000	Enhancers	Osteobl	bone
22	chr14:67105800-67109200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:67105800-67109800	Weak transcription	HMEC	breast
24	chr14:67105800-67109800	Weak transcription	NHEK	skin
25	chr14:67105800-67110200	Weak transcription	HSMM	muscle
26	chr14:67106000-67112000	Weak transcription	Osteobl	bone
27	chr14:67106200-67109800	Weak transcription	HUVEC	blood vessel
28	chr14:67106800-67107200	Enhancers	Gastric	stomach
29	chr14:67107200-67109000	Weak transcription	Gastric	stomach
30	chr14:67107600-67109200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr14:67107800-67109200	Enhancers	Psoas Muscle	Psoas
32	chr14:67108000-67110800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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