Variant report

Variant	nsv77306
Chromosome Location	chr14:105709805-105709813
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105709578..105712149-chr14:105714194..105716568,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185024	chromatin interactions
ENSG00000184887	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 106 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10137807	chr14:105709805-105709806	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs200320625	chr14:105709811-105709812	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
cataract	16735990	CNVD
Chronic lymphocytic leukemia	21546498	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
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
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
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	20369283	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105668600-105714200	Weak transcription	HUVEC	blood vessel
2	chr14:105669800-105713800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:105672400-105713200	Weak transcription	Osteobl	bone
4	chr14:105673600-105713600	Weak transcription	Stomach Mucosa	stomach
5	chr14:105676800-105713800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:105679800-105714000	Weak transcription	NHDF-Ad	bronchial
7	chr14:105680600-105714000	Weak transcription	Psoas Muscle	Psoas
8	chr14:105681400-105714000	Weak transcription	HSMMtube	muscle
9	chr14:105681400-105714200	Weak transcription	HSMM	muscle
10	chr14:105687200-105714000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr14:105687400-105714200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:105688400-105712000	Weak transcription	HepG2	liver
13	chr14:105688800-105713800	Weak transcription	NH-A	brain
14	chr14:105689800-105714000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:105690000-105710600	Weak transcription	Primary B cells from cord blood	blood
16	chr14:105690200-105713800	Weak transcription	NHEK	skin
17	chr14:105690400-105714000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:105690400-105721400	Weak transcription	K562	blood
19	chr14:105691600-105714000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr14:105693000-105710200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr14:105693000-105713600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr14:105693200-105713400	Weak transcription	GM12878-XiMat	blood
23	chr14:105693200-105713400	Weak transcription	Hela-S3	cervix
24	chr14:105693200-105713800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:105693200-105714000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:105693400-105714000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr14:105693600-105713200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr14:105693600-105713800	Weak transcription	Colon Smooth Muscle	Colon
29	chr14:105694000-105714200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr14:105694200-105713600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr14:105694200-105714200	Weak transcription	Primary T cells from cord blood	blood
32	chr14:105695600-105710200	Weak transcription	Fetal Lung	lung
33	chr14:105695600-105711800	Weak transcription	Liver	Liver
34	chr14:105703800-105714200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:105706000-105711800	Weak transcription	Fetal Brain Male	brain
36	chr14:105706200-105713200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr14:105707200-105710800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr14:105707200-105711000	Strong transcription	Fetal Intestine Small	intestine
39	chr14:105707200-105711000	Strong transcription	Fetal Stomach	stomach
40	chr14:105707200-105713800	Weak transcription	Fetal Thymus	thymus
41	chr14:105707200-105714000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr14:105707400-105711000	Strong transcription	Fetal Muscle Leg	muscle
43	chr14:105707400-105711600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:105707400-105713400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:105707600-105714000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:105707800-105714000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr14:105708000-105713400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:105708200-105714000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr14:105708400-105710200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:105708400-105710200	Weak transcription	Left Ventricle	heart

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