Variant report

Variant	esv3416685
Chromosome Location	chr14:105409884-105414963
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 837 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:837 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201139339	chr14:105409893-105409894	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371817706	chr14:105409902-105409903	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115776887	chr14:105409903-105409904	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10141053	chr14:105409907-105409908	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs539978049	chr14:105409908-105409909	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375246824	chr14:105409917-105409918	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs386781091	chr14:105409942-105409943	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371503181	chr14:105409949-105409950	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10152073	chr14:105409959-105409960	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs569298803	chr14:105409977-105409978	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531081884	chr14:105409985-105409986	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146811372	chr14:105409988-105409989	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376769549	chr14:105409999-105410000	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567820974	chr14:105410013-105410014	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140581320	chr14:105410020-105410021	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185391570	chr14:105410029-105410030	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566831238	chr14:105410031-105410032	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539060840	chr14:105410033-105410034	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558648270	chr14:105410049-105410050	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575519596	chr14:105410057-105410058	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201107568	chr14:105410080-105410081	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2819423	chr14:105410082-105410083	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs369558280	chr14:105410086-105410087	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556940298	chr14:105410091-105410092	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574336535	chr14:105410092-105410093	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540013200	chr14:105410099-105410100	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373615265	chr14:105410123-105410124	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377510829	chr14:105410124-105410125	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201789836	chr14:105410152-105410153	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560224708	chr14:105410173-105410174	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10438246	chr14:105410183-105410184	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs377500233	chr14:105410194-105410195	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371085059	chr14:105410195-105410196	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200758317	chr14:105410204-105410205	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199891797	chr14:105410206-105410207	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202229680	chr14:105410212-105410213	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369661152	chr14:105410221-105410222	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374498636	chr14:105410242-105410243	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142819769	chr14:105410243-105410244	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367673133	chr14:105410254-105410255	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374297640	chr14:105410273-105410274	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551338567	chr14:105410274-105410275	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200428043	chr14:105410279-105410280	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530346059	chr14:105410280-105410281	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374070589	chr14:105410283-105410284	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs151023874	chr14:105410295-105410296	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140887274	chr14:105410306-105410307	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538732616	chr14:105410307-105410308	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552547151	chr14:105410309-105410310	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371952129	chr14:105410313-105410314	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:60 , 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	chr14:105405400-105412000	Strong transcription	Esophagus	oesophagus
18	chr14:105406800-105421600	Weak transcription	NHLF	lung
19	chr14:105406800-105423600	Weak transcription	Pancreas	Pancrea
20	chr14:105407000-105420000	Weak transcription	Fetal Brain Female	brain
21	chr14:105407200-105414000	Weak transcription	Spleen	Spleen
22	chr14:105407200-105426800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr14:105407400-105410600	Strong transcription	Fetal Muscle Leg	muscle
24	chr14:105407400-105431800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:105407600-105419800	Weak transcription	HMEC	breast
26	chr14:105407600-105423000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:105407800-105423600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:105408000-105419600	Weak transcription	HSMMtube	muscle
29	chr14:105408000-105421000	Weak transcription	HSMM	muscle
30	chr14:105408200-105412600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr14:105408200-105421600	Weak transcription	Brain Germinal Matrix	brain
32	chr14:105408400-105415200	Weak transcription	A549	lung
33	chr14:105408400-105423600	Weak transcription	Gastric	stomach
34	chr14:105408600-105410400	Weak transcription	Colon Smooth Muscle	Colon
35	chr14:105408800-105414000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr14:105408800-105419600	Weak transcription	NHDF-Ad	bronchial
37	chr14:105409200-105412400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:105409400-105413400	Weak transcription	NHEK	skin
39	chr14:105409800-105410800	Strong transcription	Rectal Smooth Muscle	rectum
40	chr14:105410000-105410400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:105410400-105414000	Strong transcription	Colon Smooth Muscle	Colon
42	chr14:105410400-105419600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:105410600-105421200	Weak transcription	Fetal Muscle Leg	muscle
44	chr14:105410800-105415600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:105410800-105420000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr14:105412000-105413000	Weak transcription	Esophagus	oesophagus
47	chr14:105412400-105413800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:105412600-105413800	Strong transcription	Fetal Muscle Trunk	muscle
49	chr14:105412800-105413800	Weak transcription	Fetal Stomach	stomach
50	chr14:105413000-105416400	Strong transcription	Esophagus	oesophagus

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