Variant report

Variant	nsv564700
Chromosome Location	chr14:45116978-45234246
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:24)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:45126668..45127459-chr14:45315563..45316088,2	MCF-7	breast:
2	chr14:45170460..45172820-chr14:45265448..45267600,2	MCF-7	breast:
3	chr14:45226640..45228814-chr14:45238544..45240858,2	MCF-7	breast:
4	chr14:45208006..45210190-chr14:45211813..45213541,2	K562	blood:
5	chr14:45222019..45223564-chr14:45231846..45233903,2	MCF-7	breast:
6	chr14:45222019..45223564-chr14:45231846..45233903,2	MCF-7	breast:
7	chr14:44838296..44838875-chr14:45126583..45127520,3	MCF-7	breast:
8	chr14:45231102..45232656-chr14:45234891..45237559,2	MCF-7	breast:
9	chr14:45221836..45224746-chr14:45225020..45226572,2	MCF-7	breast:
10	chr14:44922572..44923387-chr14:45126451..45127121,2	MCF-7	breast:
11	chr14:45187400..45188097-chr9:112195718..112196275,2	MCF-7	breast:
12	chr14:45117709..45119759-chr14:45126176..45128721,2	MCF-7	breast:
13	chr14:45117709..45119759-chr14:45126176..45128721,2	MCF-7	breast:
14	chr14:45209376..45212205-chr14:45226497..45228469,2	MCF-7	breast:
15	chr14:45218463..45220242-chr14:45226868..45228948,2	MCF-7	breast:
16	chr14:45221836..45224746-chr14:45225020..45226572,2	MCF-7	breast:
17	chr11:42828883..42829388-chr14:45185825..45186326,2	MCF-7	breast:
18	chr14:45208006..45210190-chr14:45211813..45213541,2	K562	blood:
19	chr14:45184929..45186647-chr14:45186741..45189254,2	MCF-7	breast:
20	chr14:45230477..45232616-chr14:45235679..45238276,2	MCF-7	breast:
21	chr14:45209376..45212205-chr14:45226497..45228469,2	MCF-7	breast:
22	chr14:45227214..45228776-chr14:45264086..45266649,2	MCF-7	breast:
23	chr14:45218463..45220242-chr14:45226868..45228948,2	MCF-7	breast:
24	chr14:45184929..45186647-chr14:45186741..45189254,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL28-3	chr14:45232360-45234829	ENSG00000258998

No data

Extended variants
information (count: 2151 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2151 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117581884	chr14:45117622-45117623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs8022105	chr14:45117631-45117632	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs571847151	chr14:45117661-45117662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540926556	chr14:45117693-45117694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539268824	chr14:45117708-45117709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147497528	chr14:45117717-45117718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74472220	chr14:45117723-45117724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535822522	chr14:45117726-45117727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554560848	chr14:45117750-45117751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574396170	chr14:45117821-45117822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6572269	chr14:45117866-45117867	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs535727531	chr14:45117873-45117874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189169084	chr14:45117893-45117894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546913787	chr14:45117934-45117935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544413506	chr14:45117971-45117972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563603059	chr14:45118008-45118009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531037923	chr14:45118020-45118021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376624452	chr14:45118033-45118034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542794012	chr14:45118051-45118052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114998593	chr14:45118061-45118062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577129916	chr14:45118101-45118102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182488913	chr14:45118114-45118115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555674318	chr14:45118120-45118121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571983662	chr14:45118124-45118125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370593334	chr14:45118141-45118142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140134663	chr14:45118185-45118186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4906555	chr14:45118201-45118202	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs145439843	chr14:45118252-45118253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs8007452	chr14:45118282-45118283	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs554418404	chr14:45118316-45118317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs9671330	chr14:45118390-45118391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147282440	chr14:45118432-45118433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185490908	chr14:45118602-45118603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535396629	chr14:45118634-45118635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140693454	chr14:45118659-45118660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2095909	chr14:45118709-45118710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs568982874	chr14:45118741-45118742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556313053	chr14:45118835-45118836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190288880	chr14:45118842-45118843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543083819	chr14:45118883-45118884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561401416	chr14:45118893-45118894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573238590	chr14:45118901-45118902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566047681	chr14:45118907-45118908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540651222	chr14:45118917-45118918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181504419	chr14:45118943-45118944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372465965	chr14:45118958-45118959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185711536	chr14:45118991-45118992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77957754	chr14:45118995-45118996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374448156	chr14:45118996-45118997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149765060	chr14:45118998-45118999	Weak transcription	n/a	n/a	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
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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	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
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45117600-45118600	Enhancers	Fetal Heart	heart
2	chr14:45118600-45126000	Weak transcription	Fetal Heart	heart
3	chr14:45121000-45124200	Enhancers	Fetal Lung	lung
4	chr14:45122400-45123600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:45122800-45123200	Enhancers	Fetal Brain Male	brain
6	chr14:45122800-45123200	Enhancers	Fetal Stomach	stomach
7	chr14:45123600-45126000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:45123800-45124000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr14:45124200-45125800	Weak transcription	Fetal Lung	lung
10	chr14:45125800-45128000	Enhancers	Fetal Lung	lung
11	chr14:45126000-45126800	Enhancers	Liver	Liver
12	chr14:45126000-45127000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:45126000-45127600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:45126000-45127600	Enhancers	Fetal Heart	heart
15	chr14:45126600-45127400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:45126600-45127400	Enhancers	Fetal Brain Female	brain
17	chr14:45126800-45127200	Flanking Active TSS	Liver	Liver
18	chr14:45127200-45128400	Enhancers	Liver	Liver
19	chr14:45127400-45131600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:45128400-45131000	Weak transcription	Liver	Liver
21	chr14:45131000-45131600	Enhancers	Liver	Liver
22	chr14:45131200-45132000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr14:45131200-45132800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:45131400-45131600	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr14:45131400-45131800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr14:45131400-45131800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr14:45131400-45132400	Enhancers	Fetal Intestine Small	intestine
28	chr14:45131400-45132600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr14:45131400-45133200	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr14:45131600-45131800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr14:45131600-45132000	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr14:45131600-45132000	Flanking Active TSS	Liver	Liver
33	chr14:45131600-45132200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr14:45131600-45132200	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr14:45131600-45132200	Enhancers	Dnd41	blood
36	chr14:45131600-45132400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr14:45131600-45132800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:45131600-45133000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:45131600-45133000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:45131600-45133600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr14:45131600-45133600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:45131800-45132800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr14:45132000-45132200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr14:45132000-45132200	Enhancers	Liver	Liver
45	chr14:45132000-45132400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr14:45132200-45132400	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr14:45132200-45132400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:45132400-45132600	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr14:45132800-45133200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr14:45132800-45133600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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