Variant report

Variant	nsv9172
Chromosome Location	chr14:104248411-104252185
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542389146	chr14:104248428-104248429	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12436676	chr14:104248431-104248432	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs144447198	chr14:104248447-104248448	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148413588	chr14:104248461-104248462	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371983161	chr14:104248463-104248464	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145023723	chr14:104248466-104248467	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544084826	chr14:104248488-104248489	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532770439	chr14:104248492-104248493	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147964181	chr14:104248495-104248496	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549128170	chr14:104248701-104248702	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565455250	chr14:104248800-104248801	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191417461	chr14:104248826-104248827	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184897701	chr14:104248853-104248854	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189414117	chr14:104248914-104248915	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11160760	chr14:104248938-104248939	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs557215381	chr14:104248947-104248948	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569199509	chr14:104249028-104249029	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567401210	chr14:104249095-104249096	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536459867	chr14:104249109-104249110	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553169104	chr14:104249114-104249115	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572592370	chr14:104249162-104249163	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193171149	chr14:104249202-104249203	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561976920	chr14:104249215-104249216	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185276954	chr14:104249235-104249236	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543405258	chr14:104249245-104249246	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564022134	chr14:104249259-104249260	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529513324	chr14:104249266-104249267	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188873847	chr14:104249267-104249268	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372601366	chr14:104249277-104249278	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141840820	chr14:104249291-104249292	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182008665	chr14:104249323-104249324	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11620821	chr14:104249363-104249364	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564772367	chr14:104249434-104249435	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530530018	chr14:104249446-104249447	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550265808	chr14:104249481-104249482	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78631521	chr14:104249510-104249511	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35583523	chr14:104249550-104249551	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs398026475	chr14:104249559-104249560	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536521542	chr14:104249635-104249636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186240935	chr14:104249671-104249672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566662918	chr14:104249735-104249736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535172668	chr14:104249756-104249757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558235411	chr14:104249813-104249814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145569868	chr14:104249843-104249844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369484366	chr14:104249857-104249858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537471822	chr14:104249870-104249871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557047500	chr14:104249910-104249911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111431167	chr14:104249923-104249924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542895263	chr14:104249953-104249954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559559798	chr14:104249983-104249984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
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
Lung cancer	18438408	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
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104196000-104268000	Weak transcription	Small Intestine	intestine
2	chr14:104201000-104267600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:104203200-104267800	Weak transcription	Psoas Muscle	Psoas
4	chr14:104208800-104260000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr14:104209400-104264800	Weak transcription	Brain Substantia Nigra	brain
6	chr14:104211800-104265000	Weak transcription	Hela-S3	cervix
7	chr14:104215000-104256800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr14:104215400-104248600	Weak transcription	Aorta	Aorta
9	chr14:104215400-104250000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr14:104215400-104263800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr14:104215400-104273200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr14:104216000-104267600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:104216200-104259000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr14:104216200-104264400	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:104216200-104264600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr14:104216200-104267800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr14:104216200-104268800	Weak transcription	Brain Angular Gyrus	brain
18	chr14:104216600-104254800	Weak transcription	Brain Anterior Caudate	brain
19	chr14:104216600-104257200	Weak transcription	HepG2	liver
20	chr14:104216800-104261400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:104218400-104277800	Weak transcription	Spleen	Spleen
22	chr14:104218800-104270200	Weak transcription	Ovary	ovary
23	chr14:104219600-104250000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr14:104223200-104254600	Weak transcription	HMEC	breast
25	chr14:104228600-104265000	Weak transcription	Fetal Kidney	kidney
26	chr14:104228800-104249800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:104228800-104263200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:104228800-104270200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:104229200-104267800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:104230600-104271600	Weak transcription	Esophagus	oesophagus
31	chr14:104230800-104249200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr14:104230800-104250400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr14:104232000-104264000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr14:104232800-104250400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr14:104234000-104263200	Weak transcription	Fetal Muscle Leg	muscle
36	chr14:104236800-104272800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr14:104238800-104264400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:104238800-104270400	Weak transcription	HUVEC	blood vessel
39	chr14:104239000-104267600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr14:104239000-104272400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr14:104239200-104260600	Weak transcription	Primary B cells from cord blood	blood
42	chr14:104240800-104268000	Weak transcription	Fetal Heart	heart
43	chr14:104241000-104274400	Weak transcription	Colon Smooth Muscle	Colon
44	chr14:104242200-104250000	Weak transcription	Placenta	Placenta
45	chr14:104242400-104254400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:104242400-104260000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr14:104243000-104263400	Weak transcription	Primary T cells from cord blood	blood
48	chr14:104243600-104257000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr14:104244000-104256800	Weak transcription	Pancreas	Pancrea
50	chr14:104244000-104257000	Weak transcription	Gastric	stomach

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