Variant report

Variant	esv1806619
Chromosome Location	chr14:39630053-39633213
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:39631838..39633415-chr14:39636342..39639514,3	MCF-7	breast:
2	chr14:39628408..39631487-chr14:39631812..39634593,3	K562	blood:
3	chr14:39614914..39616637-chr14:39633029..39635576,2	K562	blood:
4	chr14:39613201..39614805-chr14:39632982..39635752,2	K562	blood:
5	chr14:39631765..39633728-chr14:39734640..39737090,2	MCF-7	breast:
6	chr14:39622454..39625117-chr14:39628651..39631009,2	K562	blood:
7	chr14:39632209..39634394-chr14:39648466..39651233,2	K562	blood:
8	chr14:39628408..39631487-chr14:39631812..39634593,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258940	chromatin interactions
ENSG00000258941	chromatin interactions
ENSG00000150527	chromatin interactions

Extended variants
information (count: 111 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2038359	chr14:39630053-39630054	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543328128	chr14:39630072-39630073	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149866852	chr14:39630155-39630156	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576369397	chr14:39630172-39630173	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs62000579	chr14:39630238-39630239	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144886710	chr14:39630245-39630246	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140342804	chr14:39630246-39630247	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144281617	chr14:39630259-39630260	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147806586	chr14:39630303-39630304	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561141935	chr14:39630316-39630317	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531921282	chr14:39630341-39630342	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147800055	chr14:39630342-39630343	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550066487	chr14:39630369-39630370	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569888459	chr14:39630382-39630383	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141714239	chr14:39630397-39630398	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143775541	chr14:39630411-39630412	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368314612	chr14:39630503-39630504	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10483542	chr14:39630513-39630514	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534710763	chr14:39630517-39630518	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10133797	chr14:39630576-39630577	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs73291562	chr14:39630609-39630610	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536479060	chr14:39630611-39630612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556793005	chr14:39630615-39630616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367892653	chr14:39630621-39630622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151103875	chr14:39630646-39630647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544990047	chr14:39630694-39630695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539085265	chr14:39630699-39630700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189223488	chr14:39630740-39630741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564944494	chr14:39630813-39630814	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77788977	chr14:39630819-39630820	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7147760	chr14:39630822-39630823	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs560886958	chr14:39630845-39630846	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529885533	chr14:39630872-39630873	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549739725	chr14:39630879-39630880	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73291565	chr14:39630880-39630881	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs532490391	chr14:39630920-39630921	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181188065	chr14:39630921-39630922	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565700140	chr14:39630927-39630928	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534672393	chr14:39630968-39630969	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548250860	chr14:39631053-39631054	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186487528	chr14:39631067-39631068	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200623307	chr14:39631083-39631084	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572091202	chr14:39631086-39631087	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191783967	chr14:39631100-39631101	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183612061	chr14:39631101-39631102	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545908052	chr14:39631121-39631122	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186432564	chr14:39631152-39631153	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150281792	chr14:39631170-39631171	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190853495	chr14:39631323-39631324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374733982	chr14:39631335-39631336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:250 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39584200-39636000	Weak transcription	Small Intestine	intestine
2	chr14:39584200-39638600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:39588600-39635400	Weak transcription	Fetal Brain Male	brain
4	chr14:39598800-39636200	Weak transcription	Stomach Mucosa	stomach
5	chr14:39604400-39635400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:39608200-39630600	Weak transcription	NHEK	skin
7	chr14:39611000-39637600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:39611200-39638800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:39611400-39638000	Weak transcription	A549	lung
10	chr14:39612000-39631600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:39612800-39637800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:39614400-39636800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr14:39614800-39636800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:39616200-39632200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr14:39616200-39632200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:39616200-39632600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:39616200-39637000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:39616800-39632200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:39616800-39636400	Strong transcription	Fetal Muscle Trunk	muscle
20	chr14:39617000-39632400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:39617000-39634800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:39617000-39636200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr14:39617200-39635800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr14:39617600-39632400	Strong transcription	Fetal Thymus	thymus
25	chr14:39617600-39637800	Weak transcription	Psoas Muscle	Psoas
26	chr14:39617800-39637400	Weak transcription	K562	blood
27	chr14:39619600-39636200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr14:39619600-39637400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr14:39619800-39636200	Strong transcription	Fetal Stomach	stomach
30	chr14:39620000-39630800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr14:39621000-39632000	Strong transcription	Primary B cells from cord blood	blood
32	chr14:39621000-39638400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr14:39622000-39633600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:39622200-39630600	Weak transcription	Brain Substantia Nigra	brain
35	chr14:39623200-39630800	Weak transcription	Right Ventricle	heart
36	chr14:39624400-39638000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr14:39625000-39636000	Strong transcription	Placenta	Placenta
38	chr14:39625600-39631600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:39626200-39632200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:39626400-39634200	Strong transcription	Fetal Lung	lung
41	chr14:39626800-39630800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr14:39626800-39637600	Weak transcription	Fetal Heart	heart
43	chr14:39626800-39637800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:39627000-39630200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr14:39627000-39630200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr14:39627000-39630200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:39627000-39630400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr14:39627000-39630600	Weak transcription	NHLF	lung
49	chr14:39627000-39630800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:39627000-39630800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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