Variant report

Variant	esv2753664
Chromosome Location	chr14:79233907-79270576
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:79256300..79257015-chr14:79314203..79315303,6	MCF-7	breast:
2	chr14:79256658..79257277-chr14:79303135..79303860,4	MCF-7	breast:
3	chr14:79255050..79257495-chr14:79302930..79304814,2	MCF-7	breast:

Extended variants
information (count: 583 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:583 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10133425	chr14:79233907-79233908	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534264288	chr14:79233909-79233910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561341956	chr14:79233911-79233912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574963352	chr14:79233942-79233943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17108230	chr14:79234006-79234007	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs370068189	chr14:79234088-79234089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148928689	chr14:79234182-79234183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569425230	chr14:79234217-79234218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576501760	chr14:79234226-79234227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372002928	chr14:79234228-79234229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532253075	chr14:79234229-79234230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs8016198	chr14:79234311-79234312	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs76543002	chr14:79234399-79234400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78319354	chr14:79234420-79234421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77908205	chr14:79234421-79234422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79591478	chr14:79234434-79234435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562648008	chr14:79234518-79234519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377339803	chr14:79234674-79234675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113721059	chr14:79234699-79234700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77995099	chr14:79234703-79234704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79581226	chr14:79234713-79234714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567755450	chr14:79234719-79234720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527379295	chr14:79234728-79234729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547140698	chr14:79234831-79234832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567007314	chr14:79234853-79234854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538869403	chr14:79234875-79234876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28548451	chr14:79234925-79234926	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs569472895	chr14:79234995-79234996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538565380	chr14:79235025-79235026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554985485	chr14:79235026-79235027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76974095	chr14:79235029-79235030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376600600	chr14:79235070-79235071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182240027	chr14:79235102-79235103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553974557	chr14:79235103-79235104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188892263	chr14:79235106-79235107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544692449	chr14:79235135-79235136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145640988	chr14:79235189-79235190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538308984	chr14:79235215-79235216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193251723	chr14:79235240-79235241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72685437	chr14:79235275-79235276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541765132	chr14:79235280-79235281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542412144	chr14:79235322-79235323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183608942	chr14:79235362-79235363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113893034	chr14:79235406-79235407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12434075	chr14:79235439-79235440	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs547428766	chr14:79235550-79235551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570469729	chr14:79235571-79235572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10151650	chr14:79235637-79235638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188705371	chr14:79235673-79235674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35921415	chr14:79235726-79235727	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	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
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22209245	CNVD
Prostate cancer	22553170	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79231400-79235400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr14:79232600-79235200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:79233400-79234400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:79233600-79234000	Enhancers	Adipose Nuclei	Adipose
5	chr14:79233600-79234200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:79233800-79234000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr14:79235200-79235800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr14:79235400-79236000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr14:79245000-79248000	Weak transcription	Psoas Muscle	Psoas
10	chr14:79249200-79249400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:79249400-79249600	Enhancers	Brain Cingulate Gyrus	brain
12	chr14:79249600-79251000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:79251000-79252200	Enhancers	Brain Cingulate Gyrus	brain
14	chr14:79251000-79252800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:79251200-79252400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:79251200-79252800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:79251600-79251800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:79251600-79252000	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr14:79252800-79254800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:79254600-79256200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:79254800-79255800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:79255000-79255200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:79255200-79255800	Enhancers	GM12878-XiMat	blood
24	chr14:79255200-79256600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:79255600-79257800	Enhancers	Fetal Brain Male	brain
26	chr14:79256600-79257000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:79256800-79257200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:79256800-79257400	Enhancers	Fetal Brain Female	brain
29	chr14:79258200-79258800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:79265000-79265400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr14:79265200-79265800	Enhancers	Brain Hippocampus Middle	brain
32	chr14:79269800-79270200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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