Variant report

Variant	esv3310828
Chromosome Location	chr14:105417085-105418279
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 305 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199890079	chr14:105417086-105417087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566793012	chr14:105417089-105417090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2396456	chr14:105417093-105417094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2248966	chr14:105417102-105417103	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs61996045	chr14:105417103-105417104	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs537998642	chr14:105417108-105417109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201666537	chr14:105417113-105417114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372310564	chr14:105417114-105417115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534151591	chr14:105417116-105417117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376632420	chr14:105417120-105417121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183642691	chr14:105417123-105417124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376730138	chr14:105417124-105417125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577175177	chr14:105417129-105417130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369116593	chr14:105417137-105417138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372521162	chr14:105417141-105417142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376056289	chr14:105417144-105417145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369187097	chr14:105417146-105417147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2013445	chr14:105417147-105417148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376784230	chr14:105417151-105417152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201202288	chr14:105417153-105417154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541568788	chr14:105417155-105417156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs3997375	chr14:105417159-105417160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374614203	chr14:105417161-105417162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138659930	chr14:105417165-105417166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370457636	chr14:105417171-105417172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116927691	chr14:105417176-105417177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201828332	chr14:105417180-105417181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374889529	chr14:105417185-105417186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569151117	chr14:105417189-105417190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187764706	chr14:105417198-105417199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201184803	chr14:105417199-105417200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148890906	chr14:105417200-105417201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143557489	chr14:105417204-105417205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533956406	chr14:105417207-105417208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192764647	chr14:105417208-105417209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376015261	chr14:105417209-105417210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148032399	chr14:105417210-105417211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370032354	chr14:105417212-105417213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184838071	chr14:105417213-105417214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371431460	chr14:105417216-105417217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199964013	chr14:105417220-105417221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541978189	chr14:105417221-105417222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2013274	chr14:105417222-105417223	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs2894635	chr14:105417225-105417226	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs368851934	chr14:105417226-105417227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563788618	chr14:105417227-105417228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2248960	chr14:105417228-105417229	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs200641835	chr14:105417229-105417230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184360021	chr14:105417231-105417232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147161233	chr14:105417233-105417234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Breast cancer	22522925	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	chr14:105400800-105424600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:105400800-105434000	Weak transcription	Aorta	Aorta
6	chr14:105401000-105423000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:105404000-105421800	Weak transcription	HUVEC	blood vessel
8	chr14:105404000-105429600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:105404200-105423400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:105406800-105421600	Weak transcription	NHLF	lung
11	chr14:105406800-105423600	Weak transcription	Pancreas	Pancrea
12	chr14:105407000-105420000	Weak transcription	Fetal Brain Female	brain
13	chr14:105407200-105426800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:105407400-105431800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:105407600-105419800	Weak transcription	HMEC	breast
16	chr14:105407600-105423000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:105407800-105423600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr14:105408000-105419600	Weak transcription	HSMMtube	muscle
19	chr14:105408000-105421000	Weak transcription	HSMM	muscle
20	chr14:105408200-105421600	Weak transcription	Brain Germinal Matrix	brain
21	chr14:105408400-105423600	Weak transcription	Gastric	stomach
22	chr14:105408800-105419600	Weak transcription	NHDF-Ad	bronchial
23	chr14:105410400-105419600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:105410600-105421200	Weak transcription	Fetal Muscle Leg	muscle
25	chr14:105410800-105420000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr14:105413800-105424600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:105414000-105420800	Weak transcription	Colon Smooth Muscle	Colon
28	chr14:105414800-105418000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr14:105415000-105421600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr14:105415200-105417800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:105415600-105419800	Weak transcription	A549	lung
32	chr14:105416200-105421400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:105416400-105417400	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr14:105416400-105418200	Weak transcription	Esophagus	oesophagus
35	chr14:105416600-105418400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr14:105416800-105418400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr14:105417000-105417800	Weak transcription	Fetal Stomach	stomach
38	chr14:105417000-105426000	Strong transcription	NHEK	skin
39	chr14:105417400-105418200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr14:105417800-105418200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:105417800-105423000	Strong transcription	Fetal Stomach	stomach
42	chr14:105418000-105424400	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr14:105418200-105421600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:105418200-105424000	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr14:105418200-105424000	Strong transcription	Esophagus	oesophagus

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