Variant report

Variant	nsv518521
Chromosome Location	chr14:104523839-104545285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104544128..104544929-chr14:104563420..104563987,2	MCF-7	breast:
2	chr14:104540844..104545973-chr14:104571339..104577117,6	MCF-7	breast:
3	chr14:104535388..104537619-chr14:104577383..104578952,2	MCF-7	breast:
4	chr14:104545086..104546796-chr14:104559774..104561722,2	MCF-7	breast:
5	chr14:104545223..104554915-chr14:104580388..104589598,19	MCF-7	breast:
6	chr14:104544255..104544937-chr14:104603467..104604144,3	MCF-7	breast:
7	chr14:104544023..104545050-chr14:104559800..104561696,18	MCF-7	breast:
8	chr14:104544063..104545055-chr14:104597000..104597979,7	K562	blood:
9	chr14:104541403..104547183-chr14:104547881..104551718,5	MCF-7	breast:
10	chr14:104543997..104544995-chr14:105106022..105106950,9	K562	blood:
11	chr14:104545220..104549697-chr14:104565674..104569877,4	MCF-7	breast:
12	chr14:104544321..104544984-chr14:104555058..104555758,2	MCF-7	breast:
13	chr14:104544325..104549558-chr14:104595747..104599236,6	MCF-7	breast:
14	chr14:104544095..104545346-chr14:105030053..105031029,7	K562	blood:
15	chr14:104534103..104536311-chr14:104582386..104584143,2	MCF-7	breast:
16	chr14:104544057..104545076-chr14:105106114..105107028,7	MCF-7	breast:
17	chr14:104541715..104543682-chr14:104583359..104585042,2	MCF-7	breast:
18	chr14:104544202..104544778-chr14:104574718..104575567,2	MCF-7	breast:
19	chr14:104543692..104545355-chr14:104595921..104598669,69	MCF-7	breast:
20	chr14:104545078..104547422-chr14:104548265..104550571,2	K562	blood:
21	chr14:104544022..104545202-chr14:104560428..104561897,10	MCF-7	breast:
22	chr14:104544004..104544697-chr14:105030089..105031236,3	MCF-7	breast:
23	chr14:104544173..104544867-chr14:104600427..104602112,4	MCF-7	breast:
24	chr14:104543947..104545819-chr14:104596724..104598570,24	MCF-7	breast:
25	chr14:104385950..104387931-chr14:104541312..104542876,2	MCF-7	breast:
26	chr14:104544184..104544985-chr14:105029856..105031015,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000207568	chromatin interactions
ENSG00000156411	chromatin interactions
ENSG00000166183	chromatin interactions

Extended variants
information (count: 402 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560225250	chr14:104530401-104530402	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs571596452	chr14:104530427-104530428	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs532164233	chr14:104530449-104530450	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs6576016	chr14:104530481-104530482	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs562635916	chr14:104530490-104530491	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs147366021	chr14:104530583-104530584	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs139473281	chr14:104530587-104530588	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs571751379	chr14:104530588-104530589	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs6576017	chr14:104530611-104530612	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs533792420	chr14:104530620-104530621	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs547481637	chr14:104530632-104530633	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs570571459	chr14:104530655-104530656	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs10151165	chr14:104530667-104530668	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs187455211	chr14:104530668-104530669	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs368328660	chr14:104530678-104530679	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs372933618	chr14:104530716-104530717	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs111282784	chr14:104530776-104530777	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs538566449	chr14:104530780-104530781	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs80316125	chr14:104532448-104532449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs556574367	chr14:104532482-104532483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs370593429	chr14:104532491-104532492	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs182335556	chr14:104532516-104532517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs376938847	chr14:104532559-104532560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs542035990	chr14:104532560-104532561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs555646899	chr14:104532565-104532566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs572346775	chr14:104532601-104532602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs149178580	chr14:104532612-104532613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs145064975	chr14:104532633-104532634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs532909833	chr14:104532636-104532637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs76731868	chr14:104532695-104532696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs370123204	chr14:104532704-104532705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs186605258	chr14:104532706-104532707	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs529004363	chr14:104532707-104532708	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs367712679	chr14:104532735-104532736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs138846682	chr14:104532754-104532755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs377041882	chr14:104532786-104532787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs527896663	chr14:104532815-104532816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs548041495	chr14:104532816-104532817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs145664869	chr14:104532854-104532855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs539779517	chr14:104532884-104532885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs530825376	chr14:104532977-104532978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs191794244	chr14:104532995-104532996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs114369397	chr14:104532996-104532997	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs550515901	chr14:104533004-104533005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs148085052	chr14:104533059-104533060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs577393163	chr14:104533072-104533073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs141793257	chr14:104533092-104533093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs572235094	chr14:104533093-104533094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs184062947	chr14:104533114-104533115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs544459795	chr14:104533125-104533126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104530400-104530800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
2	chr14:104532400-104533400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:104532600-104533200	ZNF genes & repeats	Aorta	Aorta
4	chr14:104532600-104533200	ZNF genes & repeats	Lung	lung
5	chr14:104533400-104535800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:104534800-104535000	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:104534800-104535200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:104535200-104535400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:104535400-104535800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:104535800-104536000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:104540000-104540400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
12	chr14:104540200-104540400	ZNF genes & repeats	Aorta	Aorta
13	chr14:104540800-104541200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr14:104541800-104542400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:104542800-104543000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr14:104542800-104545000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:104543000-104543400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:104543000-104544000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr14:104543000-104544800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr14:104543200-104543400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:104543200-104544600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:104543200-104544800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr14:104543400-104543800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:104543400-104544000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:104543400-104544800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr14:104543600-104548600	Weak transcription	Right Atrium	heart
27	chr14:104543800-104544400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:104544000-104544400	Enhancers	Fetal Brain Male	brain
29	chr14:104544000-104544800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr14:104544000-104544800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:104544000-104545000	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr14:104544200-104544400	Enhancers	Brain Anterior Caudate	brain
33	chr14:104544200-104544400	Bivalent Enhancer	Fetal Kidney	kidney
34	chr14:104544200-104544800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr14:104544200-104544800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr14:104544200-104544800	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr14:104544200-104544800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:104544200-104544800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr14:104544200-104544800	Enhancers	Colon Smooth Muscle	Colon
40	chr14:104544200-104544800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr14:104544200-104544800	Enhancers	Fetal Heart	heart
42	chr14:104544200-104544800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr14:104544200-104544800	Enhancers	Dnd41	blood
44	chr14:104544200-104544800	Enhancers	Hela-S3	cervix
45	chr14:104544200-104545000	Enhancers	Primary B cells from peripheral blood	blood
46	chr14:104544200-104545000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr14:104544200-104545000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:104544200-104545000	Enhancers	A549	lung
49	chr14:104544400-104544600	Enhancers	Adipose Nuclei	Adipose
50	chr14:104544400-104544800	Enhancers	Primary neutrophils fromperipheralblood	blood

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