Variant report

Variant	esv2617029
Chromosome Location	chr14:37762732-37772615
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 462 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:462 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181170095	chr14:37762774-37762775	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373794077	chr14:37762775-37762776	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367595881	chr14:37762777-37762778	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534825193	chr14:37762784-37762785	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548265824	chr14:37762786-37762787	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568161054	chr14:37762799-37762800	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537455230	chr14:37762800-37762801	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs8018605	chr14:37762822-37762823	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs576298269	chr14:37762823-37762824	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553557217	chr14:37762848-37762849	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111241353	chr14:37762875-37762876	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572256086	chr14:37762879-37762880	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541169876	chr14:37762881-37762882	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147937153	chr14:37762882-37762883	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140103952	chr14:37762907-37762908	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375206295	chr14:37762954-37762955	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117597407	chr14:37762976-37762977	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13379474	chr14:37762984-37762985	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368678729	chr14:37762997-37762998	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532867843	chr14:37763019-37763020	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28788476	chr14:37763022-37763023	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559559999	chr14:37763049-37763050	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528657241	chr14:37763054-37763055	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548327241	chr14:37763070-37763071	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528503304	chr14:37763076-37763077	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568223090	chr14:37763078-37763079	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542524294	chr14:37763116-37763117	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369838000	chr14:37763179-37763180	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537113501	chr14:37763181-37763182	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563700993	chr14:37763200-37763201	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550971123	chr14:37763202-37763203	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570737482	chr14:37763242-37763243	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373481270	chr14:37763269-37763270	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184831359	chr14:37763294-37763295	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558883691	chr14:37763295-37763296	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572318691	chr14:37763304-37763305	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534816431	chr14:37763319-37763320	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs8004441	chr14:37763320-37763321	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs574491537	chr14:37763328-37763329	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543129555	chr14:37763329-37763330	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563329067	chr14:37763348-37763349	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547430731	chr14:37763349-37763350	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576752818	chr14:37763353-37763354	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546133806	chr14:37763383-37763384	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559619792	chr14:37763442-37763443	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs376339537	chr14:37763443-37763444	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs188801829	chr14:37763492-37763493	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs564611754	chr14:37763531-37763532	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs562110334	chr14:37763538-37763539	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs369644572	chr14:37763562-37763563	Weak transcription ZNF genes & repeats	n/a	n/a	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
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Lung cancer	20031968	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Prostate cancer	21147910	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37716000-37770600	Weak transcription	A549	lung
2	chr14:37752400-37796200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:37754200-37781400	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:37755200-37764800	Weak transcription	Right Ventricle	heart
5	chr14:37757400-37764800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:37759000-37764800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:37759000-37810600	Weak transcription	Psoas Muscle	Psoas
8	chr14:37759200-37764800	Weak transcription	Gastric	stomach
9	chr14:37759800-37762800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:37760000-37762800	Weak transcription	Left Ventricle	heart
11	chr14:37760200-37762800	Weak transcription	Adipose Nuclei	Adipose
12	chr14:37760200-37763000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr14:37760400-37765800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr14:37760800-37763200	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr14:37760800-37763400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr14:37761000-37764200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr14:37761000-37778400	Weak transcription	HUVEC	blood vessel
18	chr14:37761400-37762800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:37761400-37763200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
20	chr14:37761400-37763200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr14:37761400-37763600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr14:37761600-37762800	Weak transcription	Ovary	ovary
23	chr14:37761800-37763000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
24	chr14:37761800-37763000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:37761800-37763200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:37761800-37763200	ZNF genes & repeats	Aorta	Aorta
27	chr14:37762000-37763000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:37762000-37763000	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr14:37762000-37763200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:37762000-37763200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:37762000-37763400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:37762400-37763200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:37762400-37776200	Weak transcription	Fetal Lung	lung
34	chr14:37762600-37763000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
35	chr14:37762600-37763200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:37762600-37763400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:37762600-37763400	ZNF genes & repeats	Fetal Stomach	stomach
38	chr14:37762600-37812400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:37762800-37763000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:37762800-37763000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:37762800-37763000	ZNF genes & repeats	Adipose Nuclei	Adipose
42	chr14:37762800-37763200	ZNF genes & repeats	Left Ventricle	heart
43	chr14:37762800-37763200	ZNF genes & repeats	Ovary	ovary
44	chr14:37763000-37763200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:37763000-37764600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr14:37763000-37768000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr14:37763200-37763600	Weak transcription	Aorta	Aorta
48	chr14:37763200-37765000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:37763200-37778400	Weak transcription	Ovary	ovary
50	chr14:37763200-37797400	Weak transcription	Left Ventricle	heart

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