Variant report

Variant	esv3363508
Chromosome Location	chr14:39836328-39836632
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:39736148..39737834-chr14:39835119..39837350,2	K562	blood:
2	chr14:39571533..39573983-chr14:39833782..39838007,3	MCF-7	breast:
3	chr14:39643275..39646097-chr14:39836584..39838723,2	MCF-7	breast:
4	chr14:39644496..39646645-chr14:39835925..39838040,2	MCF-7	breast:
5	chr14:39575600..39579007-chr14:39836151..39839411,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150527	chromatin interactions
ENSG00000259083	chromatin interactions
ENSG00000100934	chromatin interactions
ENSG00000258651	chromatin interactions
ENSG00000258591	chromatin interactions
ENSG00000258940	chromatin interactions
ENSG00000100941	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553696536	chr14:39836363-39836364	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs573591739	chr14:39836433-39836434	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs559986440	chr14:39836434-39836435	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs536326639	chr14:39836458-39836459	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs556035234	chr14:39836469-39836470	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs192244621	chr14:39836474-39836475	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs544766488	chr14:39836476-39836477	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs564689362	chr14:39836507-39836508	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs12433987	chr14:39836517-39836518	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs540603981	chr14:39836534-39836535	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs180981898	chr14:39836607-39836608	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs116575224	chr14:39836611-39836612	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	7 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
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
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
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
3	chr14:39792800-39841600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr14:39794400-39843200	Weak transcription	HUVEC	blood vessel
5	chr14:39797000-39837400	Weak transcription	Brain Substantia Nigra	brain
6	chr14:39802000-39841200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr14:39802800-39839400	Weak transcription	Aorta	Aorta
8	chr14:39803000-39845800	Weak transcription	NHEK	skin
9	chr14:39803200-39838400	Weak transcription	Thymus	Thymus
10	chr14:39803200-39843400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:39803200-39845800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:39803400-39843800	Weak transcription	HMEC	breast
13	chr14:39808400-39841200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr14:39812200-39845800	Weak transcription	Stomach Mucosa	stomach
15	chr14:39816800-39836600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr14:39816800-39843200	Weak transcription	Hela-S3	cervix
17	chr14:39816800-39850200	Weak transcription	Fetal Kidney	kidney
18	chr14:39817400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:39818200-39837200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:39818200-39839400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr14:39818800-39845200	Weak transcription	Placenta	Placenta
22	chr14:39818800-39867200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr14:39823000-39839200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr14:39826000-39843200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:39829000-39839400	Weak transcription	Ovary	ovary
26	chr14:39829600-39839400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr14:39833800-39839600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:39833800-39841400	Weak transcription	Osteobl	bone
29	chr14:39834000-39837400	Weak transcription	A549	lung
30	chr14:39834000-39851600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:39834200-39836800	Weak transcription	Liver	Liver
32	chr14:39834400-39839800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:39834600-39839400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:39834600-39839400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr14:39834600-39839400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:39834600-39839400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr14:39834600-39839400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr14:39834600-39839400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr14:39834600-39846000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr14:39834600-39851600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr14:39834800-39836400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:39834800-39837600	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr14:39834800-39837800	Strong transcription	Primary B cells from cord blood	blood
44	chr14:39834800-39839000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:39834800-39839400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr14:39834800-39839400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr14:39834800-39839400	Weak transcription	Adipose Nuclei	Adipose
48	chr14:39834800-39840800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr14:39834800-39846000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:39835000-39837000	Strong transcription	Fetal Intestine Small	intestine

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