Variant report

Variant	esv3399240
Chromosome Location	chr14:55646074-55646374
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55641769..55647288-chr14:55647379..55651271,6	K562	blood:
2	chr14:55643693..55646676-chr14:55654219..55656043,3	K562	blood:
3	chr14:55517066..55519736-chr14:55644348..55646551,3	MCF-7	breast:
4	chr14:55645788..55648762-chr14:55649731..55651963,3	K562	blood:

Variant related genes	Relation type
ENSG00000168175	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188210968	chr14:55646102-55646103	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs3736912	chr14:55646155-55646156	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs577311400	chr14:55646160-55646161	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs544832890	chr14:55646174-55646175	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs370771510	chr14:55646229-55646230	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs560296105	chr14:55646242-55646243	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs149509662	chr14:55646252-55646253	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs191431700	chr14:55646273-55646274	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs28488729	chr14:55646295-55646296	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs369163203	chr14:55646314-55646315	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs368885720	chr14:55646352-55646353	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16397240	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55598600-55656600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:55605200-55656000	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr14:55605400-55657000	Weak transcription	Fetal Kidney	kidney
4	chr14:55606600-55656000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:55607000-55656000	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:55607200-55652200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:55607600-55651800	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr14:55607600-55655200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:55610600-55651600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:55610600-55655400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:55610600-55655600	Strong transcription	Dnd41	blood
12	chr14:55610800-55656000	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:55611000-55656000	Weak transcription	Fetal Heart	heart
14	chr14:55611600-55656600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:55613400-55657800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:55619200-55646800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:55619800-55647400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr14:55621800-55646200	Weak transcription	NHEK	skin
19	chr14:55622600-55649000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr14:55623600-55657000	Weak transcription	Fetal Muscle Leg	muscle
21	chr14:55629000-55650400	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr14:55629200-55655600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:55629400-55650600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr14:55629400-55652000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr14:55630200-55656600	Weak transcription	Fetal Brain Female	brain
26	chr14:55631200-55649400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr14:55631200-55650400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:55632400-55656200	Weak transcription	HSMM	muscle
29	chr14:55632600-55646800	Weak transcription	Osteobl	bone
30	chr14:55632600-55647000	Weak transcription	NHLF	lung
31	chr14:55634200-55655400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:55634400-55656200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr14:55635000-55647200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:55635400-55646800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:55637200-55655600	Strong transcription	Fetal Thymus	thymus
36	chr14:55637800-55649600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr14:55638200-55648800	Weak transcription	Fetal Lung	lung
38	chr14:55638200-55656200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr14:55638600-55657200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr14:55638800-55646400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr14:55639800-55654200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:55641600-55648800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:55641600-55649000	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr14:55641800-55646600	Strong transcription	GM12878-XiMat	blood
45	chr14:55642600-55647800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:55642600-55649400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr14:55643600-55647800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:55643800-55646600	Strong transcription	NH-A	brain
49	chr14:55643800-55652000	Strong transcription	A549	lung
50	chr14:55644200-55646600	Weak transcription	HUVEC	blood vessel

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