Variant report

Variant	esv3436979
Chromosome Location	chr14:35798734-35798927
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35792975..35797440-chr14:35798201..35801252,6	MCF-7	breast:
2	chr14:35759879..35772372-chr14:35797131..35808840,38	MCF-7	breast:
3	chr14:35796183..35799251-chr14:35803909..35806605,4	MCF-7	breast:
4	chr14:35792939..35797188-chr14:35798673..35803214,8	MCF-7	breast:
5	chr14:35797442..35799693-chr14:35801625..35803378,2	K562	blood:
6	chr14:35701265..35703150-chr14:35798175..35799719,2	MCF-7	breast:
7	chr14:35798638..35800955-chr14:35861336..35863044,2	K562	blood:

Variant related genes	Relation type
ENSG00000265530	chromatin interactions
ENSG00000100902	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183533013	chr14:35798743-35798744	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs552251674	chr14:35798746-35798747	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs77665551	chr14:35798762-35798763	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs534662673	chr14:35798763-35798764	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs112218966	chr14:35798778-35798779	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs141259337	chr14:35798786-35798787	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs537727554	chr14:35798796-35798797	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs557307306	chr14:35798798-35798799	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs577364497	chr14:35798799-35798800	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs538740009	chr14:35798801-35798802	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs558644668	chr14:35798802-35798803	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs572086486	chr14:35798809-35798810	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs558717547	chr14:35798815-35798816	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs540996259	chr14:35798817-35798818	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs560914571	chr14:35798842-35798843	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs577690484	chr14:35798863-35798864	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs11156881	chr14:35798900-35798901	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs207474652	chr14:35798906-35798907	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs563385142	chr14:35798917-35798918	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs534965698	chr14:35798920-35798921	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Cancer	20164920	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35769200-35800800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:35778400-35799800	Weak transcription	Stomach Mucosa	stomach
3	chr14:35783400-35800600	Weak transcription	NHEK	skin
4	chr14:35784800-35804600	Weak transcription	Ovary	ovary
5	chr14:35784800-35804600	Weak transcription	Psoas Muscle	Psoas
6	chr14:35785400-35800800	Weak transcription	K562	blood
7	chr14:35787400-35800800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:35787600-35800800	Weak transcription	Colonic Mucosa	Colon
9	chr14:35787600-35800800	Weak transcription	Esophagus	oesophagus
10	chr14:35787600-35803200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:35788000-35804600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr14:35788200-35800600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:35788200-35800800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr14:35788200-35801200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr14:35788200-35802200	Weak transcription	NHDF-Ad	bronchial
16	chr14:35788400-35800600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:35788400-35800800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:35788400-35800800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr14:35788400-35800800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:35788400-35800800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:35788400-35800800	Weak transcription	Fetal Lung	lung
22	chr14:35788400-35800800	Weak transcription	GM12878-XiMat	blood
23	chr14:35788400-35801600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:35788400-35802200	Weak transcription	Brain Hippocampus Middle	brain
25	chr14:35788600-35801200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr14:35788600-35805800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:35788800-35801000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr14:35789000-35799000	Weak transcription	HepG2	liver
29	chr14:35789000-35800600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:35789000-35800600	Weak transcription	Fetal Intestine Large	intestine
31	chr14:35789000-35800800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:35789000-35800800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr14:35789000-35800800	Weak transcription	Left Ventricle	heart
34	chr14:35789000-35801000	Weak transcription	Adipose Nuclei	Adipose
35	chr14:35789000-35801200	Weak transcription	Primary B cells from cord blood	blood
36	chr14:35789000-35801600	Weak transcription	Primary T cells from cord blood	blood
37	chr14:35789000-35802200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:35789000-35802200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:35789000-35804600	Weak transcription	Brain Anterior Caudate	brain
40	chr14:35789200-35800800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:35789200-35800800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr14:35789400-35802000	Weak transcription	Dnd41	blood
43	chr14:35789800-35800600	Weak transcription	Placenta	Placenta
44	chr14:35790000-35800600	Weak transcription	Fetal Intestine Small	intestine
45	chr14:35790000-35801600	Weak transcription	Thymus	Thymus
46	chr14:35790200-35800800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:35790200-35801800	Weak transcription	Fetal Muscle Leg	muscle
48	chr14:35795600-35800600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:35796000-35803000	Weak transcription	Liver	Liver
50	chr14:35796800-35800800	Weak transcription	A549	lung

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