Variant report

Variant	esv18329
Chromosome Location	chr14:39631919-39633300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

Extended variants
information (count: 46 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544246557	chr14:39631969-39631970	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs141983941	chr14:39631988-39631989	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs554708253	chr14:39632005-39632006	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs115730009	chr14:39632029-39632030	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs543555828	chr14:39632060-39632061	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs575964025	chr14:39632120-39632121	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs192431259	chr14:39632126-39632127	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs576367229	chr14:39632130-39632131	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs546046607	chr14:39632229-39632230	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs559682316	chr14:39632239-39632240	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs8022123	chr14:39632302-39632303	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs8021166	chr14:39632303-39632304	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs8022141	chr14:39632346-39632347	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs541767629	chr14:39632351-39632352	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs561527251	chr14:39632358-39632359	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs373950650	chr14:39632371-39632372	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs530598243	chr14:39632372-39632373	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs550422451	chr14:39632395-39632396	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs576630995	chr14:39632463-39632464	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs532547483	chr14:39632512-39632513	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs183206870	chr14:39632516-39632517	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs188136397	chr14:39632524-39632525	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs8021225	chr14:39632570-39632571	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs76829226	chr14:39632580-39632581	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs375696773	chr14:39632596-39632597	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs566024911	chr14:39632637-39632638	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs193142567	chr14:39632684-39632685	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs55863535	chr14:39632726-39632727	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs548519374	chr14:39632744-39632745	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs58851254	chr14:39632764-39632765	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs138337589	chr14:39632785-39632786	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs557469225	chr14:39632805-39632806	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs529665642	chr14:39632861-39632862	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs116970919	chr14:39632910-39632911	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs370384883	chr14:39632913-39632914	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs184171576	chr14:39632923-39632924	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs553210261	chr14:39632931-39632932	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs35318665	chr14:39632935-39632936	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs573044600	chr14:39632947-39632948	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs141717251	chr14:39632973-39632974	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs11626002	chr14:39632976-39632977	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs575117666	chr14:39633155-39633156	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs56282196	chr14:39633185-39633186	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs563837865	chr14:39633246-39633247	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs557860071	chr14:39633275-39633276	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs552312777	chr14:39633292-39633293	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	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:180 , 50 per page) page: 1 2 3 4

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	chr14:39611000-39637600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:39611200-39638800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:39611400-39638000	Weak transcription	A549	lung
9	chr14:39612800-39637800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:39614400-39636800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr14:39614800-39636800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:39616200-39632200	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr14:39616200-39632200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:39616200-39632600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:39616200-39637000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:39616800-39632200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:39616800-39636400	Strong transcription	Fetal Muscle Trunk	muscle
18	chr14:39617000-39632400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:39617000-39634800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:39617000-39636200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr14:39617200-39635800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr14:39617600-39632400	Strong transcription	Fetal Thymus	thymus
23	chr14:39617600-39637800	Weak transcription	Psoas Muscle	Psoas
24	chr14:39617800-39637400	Weak transcription	K562	blood
25	chr14:39619600-39636200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:39619600-39637400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:39619800-39636200	Strong transcription	Fetal Stomach	stomach
28	chr14:39621000-39632000	Strong transcription	Primary B cells from cord blood	blood
29	chr14:39621000-39638400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr14:39622000-39633600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:39624400-39638000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr14:39625000-39636000	Strong transcription	Placenta	Placenta
33	chr14:39626200-39632200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:39626400-39634200	Strong transcription	Fetal Lung	lung
35	chr14:39626800-39637600	Weak transcription	Fetal Heart	heart
36	chr14:39626800-39637800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr14:39627000-39635400	Weak transcription	Colon Smooth Muscle	Colon
38	chr14:39627000-39637200	Weak transcription	Brain Angular Gyrus	brain
39	chr14:39627000-39637400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr14:39627000-39637600	Weak transcription	HSMMtube	muscle
41	chr14:39627000-39637800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr14:39627000-39637800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr14:39627000-39638800	Weak transcription	Gastric	stomach
44	chr14:39627200-39634600	Weak transcription	Fetal Kidney	kidney
45	chr14:39627200-39638600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr14:39628200-39633800	Strong transcription	HepG2	liver
47	chr14:39628200-39637600	Weak transcription	NHDF-Ad	bronchial
48	chr14:39628400-39635600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:39628800-39632200	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr14:39628800-39635000	Strong transcription	Fetal Intestine Small	intestine

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