Variant report

Variant	esv3355287
Chromosome Location	chr14:35707121-35708035
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35707379..35710076-chr14:35710482..35713240,2	MCF-7	breast:
2	chr14:35705470..35707557-chr14:35709197..35711039,2	K562	blood:
3	chr14:35706016..35708901-chr14:35873653..35875984,5	MCF-7	breast:
4	chr14:35705860..35707392-chr14:35712096..35713861,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100906	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184282900	chr14:35707149-35707150	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs567343603	chr14:35707150-35707151	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs76702422	chr14:35707264-35707265	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs536373036	chr14:35707271-35707272	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs556221829	chr14:35707276-35707277	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569728333	chr14:35707302-35707303	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs538618191	chr14:35707324-35707325	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs559254156	chr14:35707354-35707355	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs529701697	chr14:35707362-35707363	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs558989395	chr14:35707383-35707384	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs76998258	chr14:35707429-35707430	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs534997120	chr14:35707440-35707441	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs138230077	chr14:35707474-35707475	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs149549650	chr14:35707516-35707517	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs10131214	chr14:35707536-35707537	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs562525849	chr14:35707558-35707559	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs569685775	chr14:35707559-35707560	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs576107716	chr14:35707639-35707640	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs189673259	chr14:35707674-35707675	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs61741335	chr14:35707680-35707681	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs181153421	chr14:35707765-35707766	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs527615395	chr14:35707783-35707784	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs547374200	chr14:35707794-35707795	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561180422	chr14:35707801-35707802	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564940801	chr14:35707805-35707806	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs529800273	chr14:35707853-35707854	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs549867997	chr14:35707922-35707923	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs4981278	chr14:35707939-35707940	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs78565201	chr14:35707948-35707949	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs185993021	chr14:35707958-35707959	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs143949635	chr14:35707965-35707966	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs561928636	chr14:35707973-35707974	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs190850747	chr14:35707978-35707979	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs552575933	chr14:35708015-35708016	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Acute lymphoblastic leukemia	20067559	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
Esophageal cancer	20955586	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
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21858162	CNVD
Lung cancer	21569311	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Lung adenocarcinoma	17982442	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35643400-35724000	Weak transcription	Left Ventricle	heart
2	chr14:35650800-35707800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:35661000-35736400	Weak transcription	Fetal Intestine Small	intestine
4	chr14:35672000-35742200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr14:35674400-35711200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr14:35674800-35737000	Weak transcription	Lung	lung
7	chr14:35678000-35719600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr14:35680800-35729800	Weak transcription	Primary B cells from cord blood	blood
9	chr14:35681000-35729800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr14:35684600-35737000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:35684600-35760800	Weak transcription	HSMM	muscle
12	chr14:35686800-35735800	Weak transcription	Fetal Intestine Large	intestine
13	chr14:35687400-35716400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr14:35690200-35730000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:35690600-35735800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:35691200-35735800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:35693800-35717000	Weak transcription	HSMMtube	muscle
18	chr14:35694600-35726800	Weak transcription	K562	blood
19	chr14:35699200-35717200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr14:35699800-35735800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr14:35700200-35729600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr14:35700200-35738000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr14:35700400-35712400	Weak transcription	GM12878-XiMat	blood
24	chr14:35700400-35716600	Weak transcription	Fetal Thymus	thymus
25	chr14:35700400-35717400	Weak transcription	Thymus	Thymus
26	chr14:35700400-35729600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr14:35700400-35735800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:35700600-35729200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr14:35700800-35709600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr14:35700800-35717400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr14:35702800-35708000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr14:35703400-35729800	Weak transcription	Liver	Liver
33	chr14:35703800-35716600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr14:35703800-35717200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:35703800-35729800	Weak transcription	Dnd41	blood
36	chr14:35704000-35709400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:35704200-35708200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr14:35704200-35708800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:35704200-35716000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr14:35704200-35716400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr14:35705000-35709600	Weak transcription	HepG2	liver
42	chr14:35705400-35749800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:35705600-35710600	Weak transcription	NHEK	skin
44	chr14:35705600-35711400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr14:35705600-35713800	Weak transcription	Primary T cells from cord blood	blood
46	chr14:35705600-35726800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:35705600-35729800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:35705800-35735800	Weak transcription	HMEC	breast
49	chr14:35706800-35707800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:35706800-35760800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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