Variant report

Variant	esv3400401
Chromosome Location	chr14:66258288-66258414
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	chr14:66221986..66224383-chr14:66256586..66258647,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373869495	chr14:66258288-66258289	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs199539339	chr14:66258291-66258292	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs375311479	chr14:66258292-66258293	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs73270674	chr14:66258295-66258296	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs200941003	chr14:66258306-66258307	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs112331265	chr14:66258309-66258310	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs141239304	chr14:66258314-66258315	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs150927100	chr14:66258320-66258321	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs191043477	chr14:66258332-66258333	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs145817030	chr14:66258334-66258335	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs374635171	chr14:66258338-66258339	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs113307858	chr14:66258350-66258351	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs368359897	chr14:66258352-66258353	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs146754584	chr14:66258356-66258357	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs4902417	chr14:66258358-66258359	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs200243428	chr14:66258359-66258360	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs12886312	chr14:66258363-66258364	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs201490087	chr14:66258364-66258365	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs376314888	chr14:66258370-66258371	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs4899181	chr14:66258380-66258381	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs112034949	chr14:66258390-66258391	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs113681714	chr14:66258411-66258412	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	23393157	CNVD
Schizophrenia	23393157	CNVD
Seizures	23393157	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Cancer	20164919	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66256400-66259200	Enhancers	H1 Cell Line	embryonic stem cell
2	chr14:66256600-66260200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr14:66257200-66258600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:66257200-66259400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr14:66257400-66258400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:66257600-66258800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:66257600-66259000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:66258000-66258400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:66258000-66258400	Enhancers	Primary T cells from cord blood	blood
10	chr14:66258000-66258400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr14:66258000-66258400	Enhancers	Fetal Thymus	thymus
12	chr14:66258000-66259400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr14:66258200-66258400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:66258200-66258400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr14:66258200-66258400	Flanking Active TSS	Fetal Lung	lung
16	chr14:66258200-66258600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:66258200-66258600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:66258200-66258600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:66258200-66258600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr14:66258200-66258600	Enhancers	Spleen	Spleen
21	chr14:66258200-66258600	Enhancers	NH-A	brain
22	chr14:66258200-66258800	Genic enhancers	H9 Cell Line	embryonic stem cell
23	chr14:66258200-66258800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:66258200-66259000	Enhancers	Right Atrium	heart
25	chr14:66258200-66259000	Enhancers	Hela-S3	cervix
26	chr14:66258200-66259200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:66258200-66259400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:66258200-66259400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:66258200-66259400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:66258200-66259600	Enhancers	HMEC	breast
31	chr14:66258200-66259600	Enhancers	HSMM	muscle
32	chr14:66258200-66259600	Enhancers	Osteobl	bone
33	chr14:66258400-66258600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:66258400-66258600	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr14:66258400-66258600	Bivalent Enhancer	NHEK	skin
36	chr14:66258400-66258800	Enhancers	Fetal Lung	lung
37	chr14:66258400-66258800	Enhancers	Fetal Stomach	stomach
38	chr14:66258400-66259000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:66258400-66259000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr14:66258400-66259200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:66258400-66259200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:66258400-66259200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:66258400-66259200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:66258400-66259400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:66258400-66259400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr14:66258400-66259400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr14:66258400-66259400	Enhancers	NHDF-Ad	bronchial
48	chr14:66258400-66259600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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