Variant report

Variant	esv2078334
Chromosome Location	chr14:105415899-105417270
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 405 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:405 , 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	rs11850869	chr14:105415899-105415900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552655184	chr14:105415908-105415909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572869673	chr14:105415917-105415918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370064872	chr14:105415918-105415919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374808763	chr14:105415923-105415924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538269830	chr14:105415928-105415929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79599750	chr14:105415933-105415934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189083661	chr14:105415946-105415947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140072012	chr14:105415948-105415949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201385980	chr14:105415951-105415952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544172092	chr14:105415952-105415953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563961975	chr14:105415953-105415954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200381741	chr14:105415957-105415958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372275908	chr14:105415960-105415961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11850930	chr14:105415964-105415965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199585056	chr14:105415968-105415969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147961829	chr14:105415969-105415970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551563267	chr14:105415971-105415972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376259620	chr14:105415972-105415973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369277307	chr14:105415985-105415986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374219885	chr14:105415986-105415987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200253581	chr14:105415997-105415998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368191696	chr14:105415998-105415999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530802801	chr14:105416007-105416008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2582511	chr14:105416010-105416011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111547900	chr14:105416011-105416012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371375058	chr14:105416019-105416020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199792316	chr14:105416023-105416024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543055033	chr14:105416033-105416034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374490350	chr14:105416035-105416036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201741479	chr14:105416042-105416043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141832058	chr14:105416052-105416053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200915364	chr14:105416058-105416059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201426111	chr14:105416072-105416073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59117977	chr14:105416087-105416088	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs200522679	chr14:105416099-105416100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs386781099	chr14:105416103-105416104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370464101	chr14:105416104-105416105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201903346	chr14:105416112-105416113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201071549	chr14:105416113-105416114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371962152	chr14:105416118-105416119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199978944	chr14:105416123-105416124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573354991	chr14:105416124-105416125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369355582	chr14:105416130-105416131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199997021	chr14:105416138-105416139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200659301	chr14:105416146-105416147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550534577	chr14:105416150-105416151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529969665	chr14:105416151-105416152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201655658	chr14:105416154-105416155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201221327	chr14:105416157-105416158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
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
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
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105399800-105419800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr14:105399800-105424000	Weak transcription	Hela-S3	cervix
3	chr14:105399800-105425000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:105400800-105416000	Weak transcription	Brain Angular Gyrus	brain
5	chr14:105400800-105424600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:105400800-105434000	Weak transcription	Aorta	Aorta
7	chr14:105401000-105423000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:105403400-105416800	Strong transcription	Stomach Smooth Muscle	stomach
9	chr14:105404000-105421800	Weak transcription	HUVEC	blood vessel
10	chr14:105404000-105429600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:105404200-105423400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:105406800-105421600	Weak transcription	NHLF	lung
13	chr14:105406800-105423600	Weak transcription	Pancreas	Pancrea
14	chr14:105407000-105420000	Weak transcription	Fetal Brain Female	brain
15	chr14:105407200-105426800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:105407400-105431800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:105407600-105419800	Weak transcription	HMEC	breast
18	chr14:105407600-105423000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:105407800-105423600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:105408000-105419600	Weak transcription	HSMMtube	muscle
21	chr14:105408000-105421000	Weak transcription	HSMM	muscle
22	chr14:105408200-105421600	Weak transcription	Brain Germinal Matrix	brain
23	chr14:105408400-105423600	Weak transcription	Gastric	stomach
24	chr14:105408800-105419600	Weak transcription	NHDF-Ad	bronchial
25	chr14:105410400-105419600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:105410600-105421200	Weak transcription	Fetal Muscle Leg	muscle
27	chr14:105410800-105420000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr14:105413000-105416400	Strong transcription	Esophagus	oesophagus
29	chr14:105413400-105416200	Strong transcription	NHEK	skin
30	chr14:105413800-105417000	Strong transcription	Fetal Stomach	stomach
31	chr14:105413800-105424600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:105414000-105420800	Weak transcription	Colon Smooth Muscle	Colon
33	chr14:105414600-105416400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr14:105414800-105418000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr14:105415000-105421600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr14:105415200-105417800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:105415600-105419800	Weak transcription	A549	lung
38	chr14:105416200-105417000	Weak transcription	NHEK	skin
39	chr14:105416200-105421400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:105416400-105417400	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr14:105416400-105418200	Weak transcription	Esophagus	oesophagus
42	chr14:105416600-105418400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr14:105416800-105418400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr14:105417000-105417800	Weak transcription	Fetal Stomach	stomach
45	chr14:105417000-105426000	Strong transcription	NHEK	skin

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