Variant report

Variant	esv3366753
Chromosome Location	chr14:105408886-105416440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1357 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:1357 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201567366	chr14:105408887-105408888	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533220626	chr14:105408897-105408898	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369305710	chr14:105408898-105408899	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569888421	chr14:105408903-105408904	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181294528	chr14:105408912-105408913	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549201082	chr14:105408917-105408918	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369978766	chr14:105408918-105408919	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372622112	chr14:105408927-105408928	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34869129	chr14:105408929-105408930	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs137933016	chr14:105408930-105408931	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185406807	chr14:105408939-105408940	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536680955	chr14:105408953-105408954	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2819422	chr14:105408955-105408956	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs576687918	chr14:105408956-105408957	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201119759	chr14:105408959-105408960	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377669889	chr14:105408973-105408974	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150499924	chr14:105408984-105408985	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190152622	chr14:105408987-105408988	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201463021	chr14:105408993-105408994	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540518876	chr14:105408998-105408999	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564453716	chr14:105409002-105409003	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533453567	chr14:105409004-105409005	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117776917	chr14:105409019-105409020	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563651463	chr14:105409021-105409022	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373803917	chr14:105409034-105409035	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367653109	chr14:105409035-105409036	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370520306	chr14:105409039-105409040	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574649015	chr14:105409041-105409042	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200545098	chr14:105409050-105409051	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199572888	chr14:105409061-105409062	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202076435	chr14:105409064-105409065	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200562290	chr14:105409068-105409069	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367913960	chr14:105409077-105409078	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551536286	chr14:105409082-105409083	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199907410	chr14:105409099-105409100	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200965863	chr14:105409105-105409106	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199616339	chr14:105409121-105409122	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376316122	chr14:105409140-105409141	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368844655	chr14:105409157-105409158	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372770146	chr14:105409158-105409159	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202233797	chr14:105409159-105409160	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368743436	chr14:105409164-105409165	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373111365	chr14:105409168-105409169	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537123619	chr14:105409172-105409173	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376883836	chr14:105409182-105409183	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200043296	chr14:105409183-105409184	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201930846	chr14:105409189-105409190	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201173953	chr14:105409193-105409194	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572385031	chr14:105409194-105409195	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534942818	chr14:105409196-105409197	Strong transcription Weak 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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105399800-105410800	Weak transcription	Primary B cells from cord blood	blood
2	chr14:105399800-105413800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:105399800-105419800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr14:105399800-105424000	Weak transcription	Hela-S3	cervix
5	chr14:105399800-105425000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:105400800-105416000	Weak transcription	Brain Angular Gyrus	brain
7	chr14:105400800-105424600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:105400800-105434000	Weak transcription	Aorta	Aorta
9	chr14:105401000-105423000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr14:105403400-105416800	Strong transcription	Stomach Smooth Muscle	stomach
11	chr14:105404000-105421800	Weak transcription	HUVEC	blood vessel
12	chr14:105404000-105429600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:105404200-105410000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:105404200-105423400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:105404400-105412800	Strong transcription	Fetal Stomach	stomach
16	chr14:105405000-105413400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:105405200-105409400	Strong transcription	NHEK	skin
18	chr14:105405400-105409000	Strong transcription	Rectal Smooth Muscle	rectum
19	chr14:105405400-105412000	Strong transcription	Esophagus	oesophagus
20	chr14:105406800-105421600	Weak transcription	NHLF	lung
21	chr14:105406800-105423600	Weak transcription	Pancreas	Pancrea
22	chr14:105407000-105420000	Weak transcription	Fetal Brain Female	brain
23	chr14:105407200-105414000	Weak transcription	Spleen	Spleen
24	chr14:105407200-105426800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:105407400-105410600	Strong transcription	Fetal Muscle Leg	muscle
26	chr14:105407400-105431800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:105407600-105419800	Weak transcription	HMEC	breast
28	chr14:105407600-105423000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:105407800-105423600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:105408000-105419600	Weak transcription	HSMMtube	muscle
31	chr14:105408000-105421000	Weak transcription	HSMM	muscle
32	chr14:105408200-105412600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr14:105408200-105421600	Weak transcription	Brain Germinal Matrix	brain
34	chr14:105408400-105415200	Weak transcription	A549	lung
35	chr14:105408400-105423600	Weak transcription	Gastric	stomach
36	chr14:105408600-105410400	Weak transcription	Colon Smooth Muscle	Colon
37	chr14:105408800-105414000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr14:105408800-105419600	Weak transcription	NHDF-Ad	bronchial
39	chr14:105409000-105409800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr14:105409200-105412400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:105409400-105413400	Weak transcription	NHEK	skin
42	chr14:105409800-105410800	Strong transcription	Rectal Smooth Muscle	rectum
43	chr14:105410000-105410400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:105410400-105414000	Strong transcription	Colon Smooth Muscle	Colon
45	chr14:105410400-105419600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:105410600-105421200	Weak transcription	Fetal Muscle Leg	muscle
47	chr14:105410800-105415600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr14:105410800-105420000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr14:105412000-105413000	Weak transcription	Esophagus	oesophagus
50	chr14:105412400-105413800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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