Variant report

Variant	esv1821411
Chromosome Location	chr14:64488037-64506541
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:64483143..64485630-chr14:64487133..64489542,2	MCF-7	breast:
2	chr14:64490181..64492007-chr14:64498703..64500791,2	MCF-7	breast:
3	chr14:64490181..64492007-chr14:64498703..64500791,2	MCF-7	breast:
4	chr14:64476776..64478688-chr14:64505226..64506868,2	MCF-7	breast:

Extended variants
information (count: 787 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:787 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73277546	chr14:64488037-64488038	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200554446	chr14:64488055-64488056	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116597541	chr14:64488068-64488069	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373231298	chr14:64488074-64488075	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141187665	chr14:64488089-64488090	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375022006	chr14:64488134-64488135	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201757667	chr14:64488143-64488144	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369034820	chr14:64488158-64488159	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538727654	chr14:64488164-64488165	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558820427	chr14:64488175-64488176	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572125775	chr14:64488239-64488240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534781613	chr14:64488240-64488241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373495242	chr14:64488266-64488267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146961352	chr14:64488309-64488310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550610643	chr14:64488324-64488325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79555365	chr14:64488333-64488334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542660053	chr14:64488349-64488350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562535757	chr14:64488400-64488401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182432166	chr14:64488405-64488406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529621552	chr14:64488477-64488478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545080433	chr14:64488569-64488570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199968665	chr14:64488611-64488612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186427714	chr14:64488617-64488618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147554961	chr14:64488631-64488632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116369229	chr14:64488673-64488674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373154121	chr14:64488721-64488722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201005327	chr14:64488725-64488726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370509145	chr14:64488733-64488734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35883188	chr14:64488739-64488740	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs191145443	chr14:64488759-64488760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367837311	chr14:64488762-64488763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141939115	chr14:64488772-64488773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569652036	chr14:64488799-64488800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117273559	chr14:64488830-64488831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552323268	chr14:64488838-64488839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs17101566	chr14:64488881-64488882	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs183594194	chr14:64488886-64488887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554748500	chr14:64488993-64488994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574685646	chr14:64488998-64488999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536934695	chr14:64489004-64489005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556168740	chr14:64489043-64489044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76064643	chr14:64489044-64489045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544969880	chr14:64489076-64489077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113534660	chr14:64489166-64489167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562812613	chr14:64489179-64489180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145804429	chr14:64489186-64489187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148164783	chr14:64489188-64489189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530360688	chr14:64489189-64489190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544105265	chr14:64489218-64489219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563943682	chr14:64489222-64489223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64395000-64491000	Weak transcription	Psoas Muscle	Psoas
2	chr14:64419200-64489000	Weak transcription	Small Intestine	intestine
3	chr14:64442400-64491000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:64457000-64502000	Strong transcription	Placenta	Placenta
5	chr14:64457000-64519200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:64458800-64490400	Weak transcription	Colonic Mucosa	Colon
7	chr14:64460000-64513400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:64460600-64495000	Weak transcription	NHDF-Ad	bronchial
9	chr14:64463200-64491000	Weak transcription	Fetal Brain Male	brain
10	chr14:64464000-64488600	Weak transcription	HUVEC	blood vessel
11	chr14:64466400-64490600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:64466600-64490400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:64466600-64513200	Weak transcription	NHEK	skin
14	chr14:64466600-64593200	Weak transcription	Colon Smooth Muscle	Colon
15	chr14:64468800-64527200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:64469600-64518400	Weak transcription	HMEC	breast
17	chr14:64470000-64490600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr14:64471800-64489800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:64471800-64490800	Weak transcription	Spleen	Spleen
20	chr14:64471800-64505200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr14:64473000-64515000	Weak transcription	Hela-S3	cervix
22	chr14:64474400-64505000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:64475000-64488400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr14:64475200-64527200	Weak transcription	Fetal Heart	heart
25	chr14:64475600-64489600	Weak transcription	Lung	lung
26	chr14:64475600-64505600	Weak transcription	Esophagus	oesophagus
27	chr14:64475600-64518400	Weak transcription	Gastric	stomach
28	chr14:64478800-64492200	Weak transcription	Aorta	Aorta
29	chr14:64479000-64488600	Weak transcription	Ovary	ovary
30	chr14:64479000-64489000	Weak transcription	Fetal Thymus	thymus
31	chr14:64479000-64489000	Weak transcription	Right Ventricle	heart
32	chr14:64479200-64488400	Weak transcription	Fetal Muscle Leg	muscle
33	chr14:64479200-64526200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:64480400-64494200	Weak transcription	HepG2	liver
35	chr14:64481400-64489800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr14:64481400-64503000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:64481400-64574000	Weak transcription	Stomach Mucosa	stomach
38	chr14:64481600-64488200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr14:64481600-64489000	Weak transcription	Fetal Intestine Small	intestine
40	chr14:64481600-64489600	Weak transcription	Brain Germinal Matrix	brain
41	chr14:64481600-64492200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:64481600-64502400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:64481800-64488200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:64482200-64488800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr14:64482200-64500200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:64482400-64493600	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr14:64482400-64503800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:64482600-64496000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr14:64482800-64491600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:64482800-64503800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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