Variant report

Variant	nsv526398
Chromosome Location	chr14:69870418-69870944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69618593..69621450-chr14:69868461..69871153,2	MCF-7	breast:
2	chr14:69870530..69872871-chr14:69875309..69877417,2	K562	blood:
3	chr14:69823607..69825370-chr14:69868914..69871181,2	MCF-7	breast:
4	chr14:69825390..69827894-chr14:69869921..69871865,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139990	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10132626	chr14:69870418-69870419	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574899113	chr14:69870462-69870463	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542177751	chr14:69870509-69870510	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs372482214	chr14:69870573-69870574	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs572825229	chr14:69870615-69870616	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs140169433	chr14:69870620-69870621	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs189611976	chr14:69870631-69870632	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs180793405	chr14:69870706-69870707	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs116007539	chr14:69870714-69870715	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs377697339	chr14:69870746-69870747	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs183686019	chr14:69870789-69870790	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs12884978	chr14:69870800-69870801	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs530126542	chr14:69870809-69870810	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs548566867	chr14:69870810-69870811	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs149844886	chr14:69870816-69870817	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs369611218	chr14:69870844-69870845	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs115770555	chr14:69870856-69870857	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11622130	chr14:69870876-69870877	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs571350786	chr14:69870884-69870885	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs12884741	chr14:69870944-69870945	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69866200-69888000	Weak transcription	Aorta	Aorta
2	chr14:69866800-69875400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:69867200-69871200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:69867800-69870600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:69868000-69870600	Weak transcription	Fetal Intestine Small	intestine
6	chr14:69868000-69870600	Weak transcription	Left Ventricle	heart
7	chr14:69868000-69870800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:69868000-69872000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:69868000-69872600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:69868000-69872800	Weak transcription	Placenta	Placenta
11	chr14:69868000-69875000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:69868000-69875400	Weak transcription	Spleen	Spleen
13	chr14:69868000-69876200	Weak transcription	Small Intestine	intestine
14	chr14:69868000-69877000	Weak transcription	HSMMtube	muscle
15	chr14:69868000-69877800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:69868000-69890600	Weak transcription	Colonic Mucosa	Colon
17	chr14:69868000-69890800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:69868000-69890800	Weak transcription	Fetal Lung	lung
19	chr14:69868000-69891000	Weak transcription	Brain Anterior Caudate	brain
20	chr14:69868000-69892200	Weak transcription	Lung	lung
21	chr14:69868000-69923200	Weak transcription	Esophagus	oesophagus
22	chr14:69868200-69870600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:69868200-69870600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:69868200-69870600	Weak transcription	Brain Substantia Nigra	brain
25	chr14:69868200-69870600	Weak transcription	Psoas Muscle	Psoas
26	chr14:69868200-69871000	Enhancers	Fetal Brain Male	brain
27	chr14:69868200-69872600	Weak transcription	Fetal Stomach	stomach
28	chr14:69868200-69873600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr14:69868200-69874800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:69868200-69874800	Weak transcription	Pancreas	Pancrea
31	chr14:69868200-69875400	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr14:69868200-69881200	Weak transcription	Fetal Muscle Leg	muscle
33	chr14:69868200-69888400	Weak transcription	Fetal Intestine Large	intestine
34	chr14:69868200-69890000	Weak transcription	A549	lung
35	chr14:69868200-69890200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr14:69868200-69890400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr14:69868200-69890600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr14:69868200-69890600	Weak transcription	HSMM	muscle
39	chr14:69868200-69890800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr14:69868200-69890800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:69868200-69891400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:69868400-69870600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:69868400-69871400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:69868400-69872400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr14:69868400-69888400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:69868600-69870600	Weak transcription	Primary B cells from cord blood	blood
47	chr14:69868600-69875800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:69868600-69877200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr14:69868800-69870600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:69868800-69874800	Weak transcription	Colon Smooth Muscle	Colon

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