Variant report

Variant	nsv1041198
Chromosome Location	chr14:79452019-79482977
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:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:79477398..79478037-chr14:79822214..79823031,2	MCF-7	breast:
2	chr14:79477488..79478336-chr14:80679721..80680478,2	MCF-7	breast:
3	chr14:79477327..79478026-chr14:80503480..80504367,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADCK1-4	chr14:79482052-79482353	l_1017_chr14:79479846-79482353_testes
2	lnc-ADCK1-4	chr14:79479847-79480188	l_1017_chr14:79479846-79482353_testes

No data

Extended variants
information (count: 1054 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1054 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12436039	chr14:79452019-79452020	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558663329	chr14:79452107-79452108	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375782643	chr14:79452179-79452180	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78261576	chr14:79452183-79452184	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528849814	chr14:79452284-79452285	Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190701739	chr14:79452341-79452342	Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559161566	chr14:79452358-79452359	Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528223612	chr14:79452410-79452411	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs548000139	chr14:79452424-79452425	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs571099920	chr14:79452429-79452430	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs540038620	chr14:79452439-79452440	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs140759048	chr14:79452449-79452450	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs570341596	chr14:79452458-79452459	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs535461052	chr14:79452460-79452461	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs10135271	chr14:79452461-79452462	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs972138	chr14:79452468-79452469	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs372969697	chr14:79452515-79452516	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs143276808	chr14:79452521-79452522	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs182038592	chr14:79452544-79452545	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs557833153	chr14:79452560-79452561	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs577378197	chr14:79452628-79452629	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs114885593	chr14:79452652-79452653	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs73317248	chr14:79452708-79452709	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs573905656	chr14:79452755-79452756	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs542241606	chr14:79452765-79452766	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs186414015	chr14:79452789-79452790	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs538010184	chr14:79452790-79452791	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs74373817	chr14:79452794-79452795	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs17094087	chr14:79452795-79452796	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs112930316	chr14:79452805-79452806	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs536388017	chr14:79452838-79452839	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs376681932	chr14:79452839-79452840	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs79767249	chr14:79452899-79452900	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs536186185	chr14:79452921-79452922	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs377207553	chr14:79452922-79452923	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs190828859	chr14:79452929-79452930	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs566017489	chr14:79452997-79452998	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs78020113	chr14:79453001-79453002	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs534709342	chr14:79453050-79453051	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs368646788	chr14:79453051-79453052	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs577738996	chr14:79453060-79453061	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs73317251	chr14:79453081-79453082	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs140688427	chr14:79453097-79453098	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs566676508	chr14:79453115-79453116	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs542952669	chr14:79453147-79453148	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs377290969	chr14:79453148-79453149	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs145887728	chr14:79453259-79453260	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs371307670	chr14:79453337-79453338	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs36081362	chr14:79453383-79453384	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs80307806	chr14:79453387-79453388	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	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
Malignant fibrous histiocytomas	21085701	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Cancer	17440070	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79449600-79452400	Weak transcription	Osteobl	bone
2	chr14:79450400-79452400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
3	chr14:79450800-79452600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr14:79451000-79452400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
5	chr14:79451000-79452600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:79451200-79452200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr14:79451200-79452800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:79451400-79452400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr14:79451400-79452400	Enhancers	NH-A	brain
10	chr14:79451400-79452600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:79451400-79452800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr14:79451600-79453400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:79451600-79453600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:79451800-79453000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:79451800-79453200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:79452000-79452200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr14:79452000-79452400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
18	chr14:79452000-79452400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr14:79452200-79452400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
20	chr14:79452200-79452600	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr14:79452200-79452600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:79452400-79452600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr14:79452400-79452600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
24	chr14:79452400-79452600	Flanking Active TSS	NH-A	brain
25	chr14:79452400-79452600	Enhancers	Osteobl	bone
26	chr14:79452400-79452800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
27	chr14:79452400-79452800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
28	chr14:79452400-79452800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
29	chr14:79452400-79452800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
30	chr14:79452400-79453400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:79452600-79452800	Active TSS	NH-A	brain
32	chr14:79452600-79453000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr14:79452600-79453600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:79452600-79454200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr14:79452600-79454800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
36	chr14:79452800-79453000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr14:79452800-79453200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr14:79452800-79454400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
39	chr14:79453000-79453400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr14:79453000-79453600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:79453200-79453400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
42	chr14:79453200-79453600	Enhancers	H9 Cell Line	embryonic stem cell
43	chr14:79453400-79453600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:79453400-79453600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
45	chr14:79453400-79454600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
46	chr14:79453400-79454800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr14:79453600-79453800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr14:79453600-79453800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:79453600-79453800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:79453600-79453800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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