Variant report

Variant	esv3411523
Chromosome Location	chr14:55565856-55566352
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55550357..55576811-chr14:55577745..55605179,160	MCF-7	breast:
2	chr14:55564337..55568132-chr14:55580287..55582932,3	MCF-7	breast:
3	chr14:55561171..55564050-chr14:55565929..55567556,2	K562	blood:
4	chr14:55562349..55566055-chr14:55567766..55570193,3	K562	blood:

Variant related genes	Relation type
ENSG00000131981	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144501823	chr14:55565868-55565869	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs10873087	chr14:55565875-55565876	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs570893538	chr14:55565878-55565879	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs539820467	chr14:55565879-55565880	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs552571513	chr14:55565885-55565886	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570836382	chr14:55565906-55565907	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs72716659	chr14:55565914-55565915	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373016490	chr14:55565915-55565916	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs528531979	chr14:55565917-55565918	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs536303988	chr14:55565925-55565926	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs112963793	chr14:55566029-55566030	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568504031	chr14:55566042-55566043	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs34715775	chr14:55566055-55566056	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191902922	chr14:55566064-55566065	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs183855817	chr14:55566067-55566068	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs188348617	chr14:55566076-55566077	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374525875	chr14:55566084-55566085	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs137866457	chr14:55566092-55566093	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200517292	chr14:55566110-55566111	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576768801	chr14:55566140-55566141	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs370372580	chr14:55566146-55566147	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs142374688	chr14:55566162-55566163	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs574476006	chr14:55566163-55566164	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201128966	chr14:55566166-55566167	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs112656870	chr14:55566173-55566174	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563888599	chr14:55566174-55566175	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs146024448	chr14:55566176-55566177	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs374085563	chr14:55566218-55566219	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs111628620	chr14:55566290-55566291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs143519111	chr14:55566303-55566304	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs74586971	chr14:55566304-55566305	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs571825873	chr14:55566323-55566324	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs58696446	chr14:55566324-55566325	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs67103735	chr14:55566325-55566326	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs142162305	chr14:55566350-55566351	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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55557800-55568600	Weak transcription	Fetal Heart	heart
2	chr14:55559200-55569000	Weak transcription	Esophagus	oesophagus
3	chr14:55560600-55569200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:55561200-55568000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:55561800-55568400	Weak transcription	HMEC	breast
6	chr14:55561800-55568800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:55562000-55566400	Weak transcription	NHLF	lung
8	chr14:55562000-55566600	Weak transcription	Osteobl	bone
9	chr14:55562000-55568800	Weak transcription	HSMM	muscle
10	chr14:55563800-55567200	Enhancers	Placenta	Placenta
11	chr14:55564000-55566000	Enhancers	Duodenum Mucosa	Duodenum
12	chr14:55564000-55566800	Enhancers	Primary T cells fromperipheralblood	blood
13	chr14:55564000-55569000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:55564000-55569200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:55564000-55570200	Enhancers	Stomach Mucosa	stomach
16	chr14:55564200-55566000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr14:55564200-55566000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr14:55564200-55567000	Weak transcription	Lung	lung
19	chr14:55564200-55568400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:55564200-55568400	Weak transcription	Gastric	stomach
21	chr14:55564200-55568800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:55564200-55569000	Enhancers	Fetal Intestine Small	intestine
23	chr14:55564400-55566200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr14:55564400-55566800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr14:55564400-55569800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:55564800-55568600	Weak transcription	Brain Angular Gyrus	brain
27	chr14:55565000-55567200	Enhancers	Fetal Muscle Leg	muscle
28	chr14:55565000-55568600	Weak transcription	Colon Smooth Muscle	Colon
29	chr14:55565000-55568600	Weak transcription	A549	lung
30	chr14:55565000-55568800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:55565200-55566400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr14:55565200-55566400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:55565200-55566400	Weak transcription	Adipose Nuclei	Adipose
34	chr14:55565200-55566400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:55565200-55566400	Weak transcription	HepG2	liver
36	chr14:55565200-55566400	Weak transcription	NHEK	skin
37	chr14:55565200-55567200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:55565200-55567800	Weak transcription	Colonic Mucosa	Colon
39	chr14:55565200-55568600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr14:55565200-55568600	Weak transcription	Brain Substantia Nigra	brain
41	chr14:55565200-55569000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr14:55565200-55569000	Weak transcription	Brain Anterior Caudate	brain
43	chr14:55565200-55570600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:55565400-55566000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr14:55565400-55566400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:55565400-55566400	Weak transcription	Hela-S3	cervix
47	chr14:55565400-55566600	Weak transcription	Right Atrium	heart
48	chr14:55565400-55567800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:55565400-55568200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:55565400-55568400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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