Variant report

Variant	esv2433413
Chromosome Location	chr14:81255397-81256883
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	chr14:81250130..81252518-chr14:81254588..81256726,3	MCF-7	breast:
2	chr14:81252167..81254164-chr14:81256810..81258338,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572451657	chr14:81255421-81255422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569613955	chr14:81255424-81255425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs386472509	chr14:81255428-81255429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191528926	chr14:81255469-81255470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112330728	chr14:81255470-81255471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570421392	chr14:81255476-81255477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534638595	chr14:81255481-81255482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181670510	chr14:81255531-81255532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186805405	chr14:81255537-81255538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535467320	chr14:81255557-81255558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557446085	chr14:81255559-81255560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575623092	chr14:81255577-81255578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546381824	chr14:81255646-81255647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147425793	chr14:81255686-81255687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190863546	chr14:81255713-81255714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183374452	chr14:81255758-81255759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540955360	chr14:81255776-81255777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185294760	chr14:81255778-81255779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562353674	chr14:81255781-81255782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542194023	chr14:81255797-81255798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117966291	chr14:81255918-81255919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541431984	chr14:81255937-81255938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563398430	chr14:81255946-81255947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369463734	chr14:81255966-81255967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77869214	chr14:81255968-81255969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528067168	chr14:81256033-81256034	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs327424	chr14:81256051-81256052	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546332042	chr14:81256081-81256082	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571431096	chr14:81256100-81256101	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371566192	chr14:81256125-81256126	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190004688	chr14:81256149-81256150	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561560829	chr14:81256158-81256159	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551693558	chr14:81256159-81256160	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397793185	chr14:81256170-81256171	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs58696376	chr14:81256212-81256213	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs532174317	chr14:81256218-81256219	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562612576	chr14:81256219-81256220	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551433798	chr14:81256223-81256224	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550655429	chr14:81256288-81256289	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142493459	chr14:81256332-81256333	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539979496	chr14:81256371-81256372	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558260550	chr14:81256422-81256423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150963853	chr14:81256430-81256431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550875011	chr14:81256469-81256470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534354348	chr14:81256470-81256471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556046130	chr14:81256545-81256546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574203863	chr14:81256616-81256617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541816939	chr14:81256626-81256627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371854018	chr14:81256645-81256646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563174205	chr14:81256665-81256666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81192800-81305400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:81205000-81261000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:81207600-81265400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:81222400-81260000	Weak transcription	Fetal Brain Female	brain
5	chr14:81227000-81260800	Weak transcription	NH-A	brain
6	chr14:81227400-81258000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr14:81232400-81260800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr14:81235400-81266600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:81237400-81260600	Weak transcription	Right Ventricle	heart
10	chr14:81237600-81255800	Weak transcription	NHLF	lung
11	chr14:81237600-81264600	Weak transcription	Psoas Muscle	Psoas
12	chr14:81238000-81267000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr14:81239200-81258800	Weak transcription	Adipose Nuclei	Adipose
14	chr14:81239400-81257800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:81239400-81260200	Weak transcription	NHEK	skin
16	chr14:81240800-81260800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:81241000-81263200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr14:81242200-81261000	Weak transcription	Liver	Liver
19	chr14:81243800-81259000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:81243800-81261200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr14:81246200-81259000	Weak transcription	Lung	lung
22	chr14:81246800-81271600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr14:81248000-81255400	Strong transcription	Fetal Thymus	thymus
24	chr14:81248600-81258400	Weak transcription	HSMM	muscle
25	chr14:81248600-81263200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:81249000-81260600	Weak transcription	HUVEC	blood vessel
27	chr14:81249000-81266600	Weak transcription	Primary T cells from cord blood	blood
28	chr14:81249400-81258600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:81249600-81261200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:81249800-81261200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:81250200-81259200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:81250200-81266600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr14:81250200-81268400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr14:81250400-81260800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr14:81250400-81266800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr14:81251400-81261200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr14:81251600-81258400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:81251600-81259000	Weak transcription	Left Ventricle	heart
39	chr14:81251600-81259200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:81251600-81259200	Weak transcription	Aorta	Aorta
41	chr14:81251600-81260600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr14:81251600-81261200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr14:81251800-81255600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr14:81251800-81257600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr14:81251800-81257800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr14:81251800-81258200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:81251800-81259000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr14:81251800-81261000	Weak transcription	Ovary	ovary
49	chr14:81251800-81263600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:81251800-81282600	Weak transcription	A549	lung

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