Variant report

Variant	nsv456323
Chromosome Location	chr14:62893766-62970049
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:62932820..62934651-chr14:62937131..62939735,2	K562	blood:
2	chr14:62943531..62945399-chr14:62946966..62948900,2	K562	blood:
3	chr14:62943531..62945399-chr14:62946966..62948900,2	K562	blood:
4	chr14:62932820..62934651-chr14:62937131..62939735,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNH5-8	chr14:62909483-62909754	expReg_chr14_3924_-
2	lnc-KCNH5-9	chr14:62908258-62908459	expReg_chr14_3917_-

No data

Extended variants
information (count: 1620 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1620 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1954568	chr14:62893766-62893767	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs1954567	chr14:62893830-62893831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs144496848	chr14:62893833-62893834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139170279	chr14:62893895-62893896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528450375	chr14:62893931-62893932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1954566	chr14:62893933-62893934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs568560365	chr14:62893939-62893940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369051481	chr14:62893953-62893954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143721253	chr14:62893954-62893955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34691988	chr14:62893998-62893999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs556304719	chr14:62894009-62894010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1954565	chr14:62894010-62894011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs142156642	chr14:62894015-62894016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558381916	chr14:62894024-62894025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571716733	chr14:62894029-62894030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183659525	chr14:62894061-62894062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537600026	chr14:62894092-62894093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35991218	chr14:62894093-62894094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541975690	chr14:62894110-62894111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375467893	chr14:62894151-62894152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554290308	chr14:62894154-62894155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2022810	chr14:62894158-62894159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs190457843	chr14:62894159-62894160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34493745	chr14:62894167-62894168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs564636165	chr14:62894184-62894185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146359017	chr14:62894201-62894202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560048806	chr14:62894208-62894209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546993032	chr14:62894222-62894223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2022809	chr14:62894224-62894225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs80301711	chr14:62894241-62894242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535757415	chr14:62894248-62894249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80142686	chr14:62894269-62894270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561663906	chr14:62894285-62894286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547313288	chr14:62894289-62894290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550766915	chr14:62894315-62894316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569834763	chr14:62894323-62894324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72724754	chr14:62894328-62894329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs182095053	chr14:62894337-62894338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77754624	chr14:62894354-62894355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112249862	chr14:62894383-62894384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12887916	chr14:62894386-62894387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs8013313	chr14:62894394-62894395	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs574318255	chr14:62894401-62894402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149760153	chr14:62894450-62894451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187646241	chr14:62894484-62894485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147239464	chr14:62894490-62894491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375019264	chr14:62894507-62894508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191523085	chr14:62894551-62894552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553000090	chr14:62894599-62894600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557553532	chr14:62894613-62894614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
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	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:62893600-62895400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:62894600-62896000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:62895000-62895200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr14:62895000-62895600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:62895000-62895800	Enhancers	NH-A	brain
6	chr14:62895000-62896200	Enhancers	NHEK	skin
7	chr14:62895200-62895600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:62895200-62895800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:62895200-62895800	Enhancers	Hela-S3	cervix
10	chr14:62895200-62895800	Enhancers	HSMMtube	muscle
11	chr14:62895200-62896000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:62895400-62895600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr14:62895400-62895600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:62895600-62897600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:62897600-62899200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:62900000-62905200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:62900200-62901200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr14:62905200-62905600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:62905600-62910200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:62906800-62908400	ZNF genes & repeats	Gastric	stomach
21	chr14:62908000-62908400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:62910000-62910200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:62910200-62910400	Enhancers	Placenta Amnion	Placenta Amnion
24	chr14:62910200-62911000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:62910200-62911000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:62910200-62911200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:62910400-62910800	Enhancers	Brain Germinal Matrix	brain
28	chr14:62910400-62911200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:62910400-62911200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:62910400-62911200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr14:62910400-62911200	Enhancers	NH-A	brain
32	chr14:62910400-62911200	Enhancers	NHEK	skin
33	chr14:62910600-62912600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr14:62910800-62911200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr14:62910800-62912000	Weak transcription	Brain Germinal Matrix	brain
36	chr14:62911000-62911200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr14:62911000-62911200	Enhancers	Placenta Amnion	Placenta Amnion
38	chr14:62911000-62912800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr14:62911200-62911600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr14:62911200-62911600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr14:62911600-62912000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr14:62911600-62912000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr14:62911800-62912000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr14:62911800-62912200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr14:62911800-62912600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr14:62912000-62912400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr14:62912000-62912400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr14:62912200-62912400	Enhancers	Brain Germinal Matrix	brain
49	chr14:62912400-62912600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr14:62912400-62912600	Active TSS	iPS-20b Cell Line	embryonic stem cell

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