Variant report

Variant	esv3529635
Chromosome Location	chr14:35701988-35702880
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35694745..35697043-chr14:35701937..35704486,2	MCF-7	breast:
2	chr14:35698279..35702159-chr14:35801289..35806332,5	MCF-7	breast:
3	chr14:35702282..35704520-chr14:35800753..35803790,5	MCF-7	breast:
4	chr14:35699579..35702448-chr14:35709536..35711264,2	MCF-7	breast:
5	chr14:35701125..35703592-chr14:35762146..35764422,2	MCF-7	breast:
6	chr14:35688349..35704994-chr14:35861790..35878218,62	MCF-7	breast:
7	chr14:35700495..35703278-chr14:35704050..35706629,2	K562	blood:
8	chr14:35630047..35632589-chr14:35700698..35702553,2	MCF-7	breast:
9	chr14:35701265..35703150-chr14:35798175..35799719,2	MCF-7	breast:
10	chr14:35701633..35705447-chr14:35760005..35763215,4	MCF-7	breast:
11	chr14:35701570..35704183-chr14:35804617..35807506,4	MCF-7	breast:
12	chr14:35683362..35686230-chr14:35702094..35703639,2	MCF-7	breast:
13	chr14:35695193..35706000-chr14:35866255..35879159,42	MCF-7	breast:
14	chr14:35700471..35702762-chr14:35811850..35814628,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000265530	chromatin interactions
ENSG00000256243	chromatin interactions
ENSG00000100906	chromatin interactions
ENSG00000100902	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577526545	chr14:35702022-35702023	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs540007915	chr14:35702023-35702024	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs558687440	chr14:35702025-35702026	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs541912212	chr14:35702026-35702027	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs186145041	chr14:35702036-35702037	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs540758292	chr14:35702046-35702047	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs560984028	chr14:35702068-35702069	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs143021715	chr14:35702069-35702070	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs543346290	chr14:35702072-35702073	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs544843856	chr14:35702079-35702080	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs563208754	chr14:35702097-35702098	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs532197347	chr14:35702118-35702119	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs551908434	chr14:35702152-35702153	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs111759333	chr14:35702154-35702155	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs55851011	chr14:35702302-35702303	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs556944736	chr14:35702394-35702395	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs536444358	chr14:35702433-35702434	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs148206611	chr14:35702467-35702468	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs548392360	chr14:35702529-35702530	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs568472821	chr14:35702568-35702569	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs372700927	chr14:35702593-35702594	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs537037931	chr14:35702597-35702598	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs551316169	chr14:35702619-35702620	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs17103117	chr14:35702696-35702697	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs141328778	chr14:35702705-35702706	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs181434989	chr14:35702706-35702707	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs150385957	chr14:35702714-35702715	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs534743370	chr14:35702738-35702739	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs554353048	chr14:35702807-35702808	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs8181982	chr14:35702857-35702858	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs542987008	chr14:35702879-35702880	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35643400-35724000	Weak transcription	Left Ventricle	heart
2	chr14:35650600-35702600	Weak transcription	Liver	Liver
3	chr14:35650800-35707800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:35661000-35736400	Weak transcription	Fetal Intestine Small	intestine
5	chr14:35672000-35742200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:35674400-35711200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr14:35674800-35737000	Weak transcription	Lung	lung
8	chr14:35678000-35719600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr14:35680800-35729800	Weak transcription	Primary B cells from cord blood	blood
10	chr14:35681000-35729800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr14:35684000-35706800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:35684600-35737000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr14:35684600-35760800	Weak transcription	HSMM	muscle
14	chr14:35684800-35703000	Weak transcription	HMEC	breast
15	chr14:35686800-35735800	Weak transcription	Fetal Intestine Large	intestine
16	chr14:35687400-35716400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr14:35690200-35730000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr14:35690600-35735800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:35691000-35702600	Weak transcription	NHDF-Ad	bronchial
20	chr14:35691000-35702800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:35691200-35735800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:35693800-35717000	Weak transcription	HSMMtube	muscle
23	chr14:35694600-35726800	Weak transcription	K562	blood
24	chr14:35698600-35704200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:35699000-35703800	Enhancers	Primary hematopoietic stem cells	blood
26	chr14:35699000-35704000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr14:35699000-35704200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr14:35699200-35717200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr14:35699800-35735800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr14:35700200-35703000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:35700200-35729600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr14:35700200-35738000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr14:35700400-35702800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr14:35700400-35703400	Weak transcription	HepG2	liver
35	chr14:35700400-35712400	Weak transcription	GM12878-XiMat	blood
36	chr14:35700400-35716600	Weak transcription	Fetal Thymus	thymus
37	chr14:35700400-35717400	Weak transcription	Thymus	Thymus
38	chr14:35700400-35729600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr14:35700400-35735800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr14:35700600-35704200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr14:35700600-35729200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr14:35700800-35703800	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr14:35700800-35709600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr14:35700800-35717400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr14:35701200-35704600	Weak transcription	Primary T cells from cord blood	blood
46	chr14:35701600-35702200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:35701600-35702600	Weak transcription	Dnd41	blood
48	chr14:35701600-35702800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr14:35702600-35702800	Enhancers	Liver	Liver
50	chr14:35702600-35702800	Enhancers	Pancreatic Islets	Pancreatic Islet

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