Variant report

Variant	esv3338673
Chromosome Location	chr14:56088012-56088652
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56087704..56089549-chr14:56953257..56955747,2	K562	blood:

Variant related genes	Relation type
ENSG00000070269	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536533744	chr14:56088015-56088016	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs3059144	chr14:56088023-56088024	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs148521802	chr14:56088024-56088025	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs397800050	chr14:56088026-56088027	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs149713268	chr14:56088027-56088028	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561256453	chr14:56088050-56088051	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs576026041	chr14:56088055-56088056	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs543555732	chr14:56088064-56088065	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113649689	chr14:56088065-56088066	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
10	rs373555731	chr14:56088067-56088068	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs183866160	chr14:56088095-56088096	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs115363524	chr14:56088197-56088198	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs560366128	chr14:56088205-56088206	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs527617294	chr14:56088246-56088247	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542931479	chr14:56088255-56088256	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs145585107	chr14:56088327-56088328	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553884396	chr14:56088380-56088381	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs116176019	chr14:56088393-56088394	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs28754619	chr14:56088394-56088395	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs571295297	chr14:56088398-56088399	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs28380739	chr14:56088402-56088403	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs28681420	chr14:56088403-56088404	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs565926006	chr14:56088409-56088410	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs188246586	chr14:56088411-56088412	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554797050	chr14:56088470-56088471	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs34889049	chr14:56088488-56088489	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs569959623	chr14:56088532-56088533	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs10618434	chr14:56088565-56088566	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs564379787	chr14:56088583-56088584	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs537417779	chr14:56088599-56088600	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs558803742	chr14:56088610-56088611	Weak transcription Strong transcription	Chromatin interactive region	1 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
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	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
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	21163964	CNVD
Cancer	20164919	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56077800-56092000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:56078600-56148600	Weak transcription	Stomach Mucosa	stomach
3	chr14:56078800-56095400	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr14:56079000-56089000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:56079000-56091000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:56079200-56095200	Strong transcription	Primary T cells from cord blood	blood
7	chr14:56079800-56088400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:56079800-56111400	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr14:56080200-56097800	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr14:56080600-56091800	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr14:56080800-56110800	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr14:56081200-56090400	Strong transcription	Adipose Nuclei	Adipose
13	chr14:56081600-56090000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:56082200-56091000	Strong transcription	Placenta	Placenta
15	chr14:56082400-56090200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:56082400-56091800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:56082400-56092000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr14:56082600-56089600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:56082600-56091800	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr14:56082800-56088400	Strong transcription	Fetal Lung	lung
21	chr14:56082800-56090000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:56082800-56090200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:56082800-56090400	Strong transcription	Osteobl	bone
24	chr14:56082800-56090600	Strong transcription	NHEK	skin
25	chr14:56082800-56091800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:56083000-56088400	Strong transcription	Hela-S3	cervix
27	chr14:56083000-56091000	Strong transcription	HUVEC	blood vessel
28	chr14:56083200-56088200	Strong transcription	HSMM	muscle
29	chr14:56083200-56090000	Strong transcription	NH-A	brain
30	chr14:56083400-56088200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr14:56083600-56088200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr14:56083800-56089200	Weak transcription	Fetal Heart	heart
33	chr14:56084000-56091800	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr14:56084400-56088200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
35	chr14:56084400-56088400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:56084600-56088200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:56084600-56088200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:56084600-56088200	ZNF genes & repeats	GM12878-XiMat	blood
39	chr14:56084600-56088400	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr14:56084800-56088600	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr14:56085000-56088400	Strong transcription	Colon Smooth Muscle	Colon
42	chr14:56085000-56091000	Strong transcription	Left Ventricle	heart
43	chr14:56085200-56088200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
44	chr14:56085200-56090000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr14:56085400-56088200	Strong transcription	Fetal Kidney	kidney
46	chr14:56085600-56088400	Strong transcription	Brain Substantia Nigra	brain
47	chr14:56085800-56088400	Strong transcription	Stomach Smooth Muscle	stomach
48	chr14:56086000-56088200	Strong transcription	Brain Hippocampus Middle	brain
49	chr14:56086000-56088400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:56086000-56093400	Strong transcription	A549	lung

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