Variant report

Variant	esv3333622
Chromosome Location	chr14:35770428-35770655
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35769773..35772812-chr14:35867526..35872347,5	MCF-7	breast:
2	chr14:35761352..35763158-chr14:35768733..35771516,3	K562	blood:
3	chr14:35769727..35774156-chr14:35872374..35875665,4	K562	blood:
4	chr14:35767335..35771562-chr14:35774308..35778069,5	MCF-7	breast:
5	chr14:35767852..35773242-chr14:35799435..35804534,8	MCF-7	breast:
6	chr14:35766917..35773748-chr14:35871554..35875430,9	MCF-7	breast:
7	chr14:35768353..35771704-chr14:35872535..35875927,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100902	chromatin interactions
ENSG00000100906	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532513189	chr14:35770464-35770465	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs112445466	chr14:35770467-35770468	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs559617615	chr14:35770476-35770477	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs10134368	chr14:35770481-35770482	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs60707741	chr14:35770482-35770483	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs79896256	chr14:35770493-35770494	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs530403967	chr14:35770547-35770548	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs567370955	chr14:35770619-35770620	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs535938487	chr14:35770628-35770629	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs143309416	chr14:35770653-35770654	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Breast cancer	22522925	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35762600-35774400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:35762600-35778400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:35762800-35778600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:35762800-35778800	Weak transcription	Aorta	Aorta
5	chr14:35763200-35777000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:35763200-35778000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:35763200-35780000	Weak transcription	Fetal Kidney	kidney
8	chr14:35763200-35789600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:35763600-35775000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:35763600-35776800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr14:35763600-35777000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:35763600-35778800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:35763800-35777200	Weak transcription	Placenta	Placenta
14	chr14:35763800-35777600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:35763800-35777800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr14:35763800-35777800	Weak transcription	HSMM	muscle
17	chr14:35763800-35778600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr14:35763800-35778600	Weak transcription	Colonic Mucosa	Colon
19	chr14:35763800-35778600	Weak transcription	Esophagus	oesophagus
20	chr14:35763800-35778600	Weak transcription	Ovary	ovary
21	chr14:35763800-35779200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:35764000-35771000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:35764000-35771600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr14:35764000-35771600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr14:35764000-35772600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr14:35764000-35778200	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:35764000-35778600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:35764000-35779200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:35764200-35777000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr14:35764200-35777200	Weak transcription	Osteobl	bone
31	chr14:35764200-35778200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr14:35764400-35773200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr14:35764400-35774000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:35764400-35777800	Weak transcription	NHLF	lung
35	chr14:35764600-35771000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:35764600-35778600	Weak transcription	Brain Anterior Caudate	brain
37	chr14:35764600-35778600	Weak transcription	Brain Germinal Matrix	brain
38	chr14:35764800-35772600	Weak transcription	Right Ventricle	heart
39	chr14:35765200-35770600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:35765200-35771000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr14:35765200-35773200	Weak transcription	Fetal Stomach	stomach
42	chr14:35765200-35774400	Weak transcription	Right Atrium	heart
43	chr14:35765200-35778600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:35765200-35778800	Weak transcription	Brain Angular Gyrus	brain
45	chr14:35765200-35779800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr14:35765400-35770800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:35765400-35773400	Weak transcription	Fetal Intestine Large	intestine
48	chr14:35765400-35777000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:35765400-35778400	Weak transcription	Fetal Brain Female	brain
50	chr14:35765400-35778800	Weak transcription	Gastric	stomach

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