Variant report

Variant	esv3440726
Chromosome Location	chr14:70304199-70308597
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	chr14:70294846..70296359-chr14:70304278..70306055,2	K562	blood:

Extended variants
information (count: 187 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545046344	chr14:70304213-70304214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567804059	chr14:70304216-70304217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35963864	chr14:70304217-70304218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397818727	chr14:70304229-70304230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557109552	chr14:70304231-70304232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575466239	chr14:70304232-70304233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373475076	chr14:70304293-70304294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536739732	chr14:70304318-70304319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563047163	chr14:70304403-70304404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554812333	chr14:70304404-70304405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557106969	chr14:70304469-70304470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs60733604	chr14:70304485-70304486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577094375	chr14:70304503-70304504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192246719	chr14:70304629-70304630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113678496	chr14:70304638-70304639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17107328	chr14:70304639-70304640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs150843201	chr14:70304650-70304651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545357972	chr14:70304744-70304745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528413090	chr14:70304776-70304777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530665517	chr14:70304838-70304839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139313296	chr14:70304854-70304855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78230036	chr14:70304875-70304876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs118004849	chr14:70304885-70304886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146621113	chr14:70304887-70304888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538929150	chr14:70304924-70304925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141420831	chr14:70304926-70304927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143862908	chr14:70304998-70304999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145694256	chr14:70305001-70305002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555154401	chr14:70305002-70305003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573229320	chr14:70305012-70305013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534329803	chr14:70305023-70305024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572472883	chr14:70305035-70305036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61646517	chr14:70305038-70305039	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs149026129	chr14:70305057-70305058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545321152	chr14:70305058-70305059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563530217	chr14:70305060-70305061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143036236	chr14:70305230-70305231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143738538	chr14:70305246-70305247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542421196	chr14:70305250-70305251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148216255	chr14:70305321-70305322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528151100	chr14:70305339-70305340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184754963	chr14:70305367-70305368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140224553	chr14:70305383-70305384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564528583	chr14:70305399-70305400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146982830	chr14:70305484-70305485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190800714	chr14:70305514-70305515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138151437	chr14:70305516-70305517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113982119	chr14:70305597-70305598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192312325	chr14:70305624-70305625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11623375	chr14:70305653-70305654	Weak transcription	n/a	n/a	Overlapped CNVs	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
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	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
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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70295800-70306400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:70306200-70306400	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr14:70306200-70306400	Bivalent Enhancer	Fetal Kidney	kidney
4	chr14:70306200-70306600	Bivalent/Poised TSS	Fetal Lung	lung
5	chr14:70306200-70306600	Enhancers	Pancreas	Pancrea
6	chr14:70306400-70306600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:70306400-70306600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
8	chr14:70306400-70306800	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
9	chr14:70306400-70311200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:70306600-70307800	Enhancers	Brain Germinal Matrix	brain
11	chr14:70306600-70308200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:70306600-70310600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr14:70306800-70308400	Enhancers	HepG2	liver
14	chr14:70307200-70310800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:70307400-70309200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:70307600-70308000	Bivalent Enhancer	Fetal Kidney	kidney
17	chr14:70307600-70311200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:70307800-70308400	Enhancers	Fetal Brain Female	brain
19	chr14:70307800-70308800	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr14:70307800-70310200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr14:70307800-70310200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:70307800-70310600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:70308000-70308600	Enhancers	Fetal Kidney	kidney
24	chr14:70308000-70310000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr14:70308000-70310400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr14:70308200-70308600	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr14:70308200-70310000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr14:70308200-70310000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:70308200-70310200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr14:70308200-70310200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr14:70308200-70310200	Enhancers	Fetal Brain Male	brain
32	chr14:70308200-70311200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr14:70308400-70308600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:70308400-70308600	Flanking Active TSS	HepG2	liver
35	chr14:70308400-70309200	Weak transcription	Fetal Brain Female	brain

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