Variant report

Variant	esv2439123
Chromosome Location	chr14:67755393-67756850
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	chr14:67708184..67709973-chr14:67753641..67755758,3	MCF-7	breast:
2	chr14:67747069..67749404-chr14:67756666..67758453,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072415	chromatin interactions

Extended variants
information (count: 53 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556671113	chr14:67755484-67755485	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs574276503	chr14:67755510-67755511	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs575009333	chr14:67755557-67755558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542032302	chr14:67755622-67755623	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs371798876	chr14:67755667-67755668	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs374562130	chr14:67755676-67755677	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs72321362	chr14:67755682-67755683	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs36044460	chr14:67755701-67755702	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs140342958	chr14:67755744-67755745	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs76621117	chr14:67755858-67755859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553658173	chr14:67755863-67755864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527941527	chr14:67755864-67755865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61288545	chr14:67755865-67755866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546081976	chr14:67755885-67755886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564585481	chr14:67755911-67755912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531959245	chr14:67755918-67755919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550296841	chr14:67755925-67755926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562410213	chr14:67755952-67755953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144192414	chr14:67756007-67756008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548031252	chr14:67756019-67756020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34681433	chr14:67756026-67756027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571970926	chr14:67756031-67756032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145436848	chr14:67756052-67756053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534122063	chr14:67756065-67756066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552494226	chr14:67756168-67756169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570885451	chr14:67756215-67756216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545752871	chr14:67756221-67756222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6573765	chr14:67756236-67756237	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs576112928	chr14:67756241-67756242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2057395	chr14:67756255-67756256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57259066	chr14:67756312-67756313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs34707789	chr14:67756364-67756365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536058494	chr14:67756374-67756375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554114056	chr14:67756421-67756422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371090464	chr14:67756485-67756486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4303410	chr14:67756486-67756487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572598372	chr14:67756512-67756513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543109469	chr14:67756513-67756514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546116870	chr14:67756515-67756516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10669829	chr14:67756516-67756517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs33933294	chr14:67756517-67756518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2057394	chr14:67756546-67756547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564425546	chr14:67756588-67756589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375357591	chr14:67756589-67756590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543775738	chr14:67756610-67756611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547291247	chr14:67756612-67756613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562604857	chr14:67756648-67756649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111326104	chr14:67756678-67756679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189623679	chr14:67756710-67756711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548257103	chr14:67756717-67756718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Malignant peripheral nerve sheath tumor	18522746	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21611746	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67721400-67798400	Weak transcription	Hela-S3	cervix
2	chr14:67730800-67769800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr14:67732400-67810000	Weak transcription	Gastric	stomach
4	chr14:67734200-67760200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr14:67734800-67768600	Weak transcription	GM12878-XiMat	blood
6	chr14:67735200-67760200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr14:67735400-67771600	Weak transcription	NHEK	skin
8	chr14:67735400-67778600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:67735400-67798400	Weak transcription	K562	blood
10	chr14:67735600-67770000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr14:67735600-67772000	Weak transcription	Lung	lung
12	chr14:67735600-67810000	Weak transcription	Aorta	Aorta
13	chr14:67736200-67768600	Weak transcription	Fetal Thymus	thymus
14	chr14:67736600-67762400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr14:67736600-67770600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:67736800-67760400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr14:67737000-67759800	Weak transcription	NH-A	brain
18	chr14:67737000-67768200	Weak transcription	HMEC	breast
19	chr14:67737000-67768400	Weak transcription	A549	lung
20	chr14:67737000-67769800	Weak transcription	Ovary	ovary
21	chr14:67737000-67777600	Weak transcription	HepG2	liver
22	chr14:67737200-67768000	Weak transcription	Osteobl	bone
23	chr14:67737200-67772200	Weak transcription	Fetal Muscle Leg	muscle
24	chr14:67737200-67801400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:67737400-67759200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:67737400-67759400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr14:67737400-67768600	Weak transcription	NHDF-Ad	bronchial
28	chr14:67738200-67759200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:67738200-67778600	Weak transcription	HSMMtube	muscle
30	chr14:67738200-67786400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr14:67738400-67759200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:67738400-67769200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:67738600-67772000	Weak transcription	Fetal Stomach	stomach
34	chr14:67739600-67770600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:67739800-67759200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr14:67739800-67760400	Weak transcription	Dnd41	blood
37	chr14:67739800-67765600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:67739800-67768200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:67739800-67769600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:67739800-67769800	Weak transcription	Primary T cells from cord blood	blood
41	chr14:67739800-67770200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr14:67739800-67771600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:67739800-67778600	Weak transcription	Left Ventricle	heart
44	chr14:67740000-67769400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:67740000-67790600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:67740400-67760400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:67743200-67771800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr14:67743400-67768600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:67743600-67759000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:67743600-67759200	Weak transcription	Liver	Liver

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