Variant report

Variant	nsv1035695
Chromosome Location	chr14:72323819-72383610
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:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:72315220..72316901-chr14:72337950..72340408,2	MCF-7	breast:
2	chr14:72187814..72188399-chr14:72363716..72364677,2	MCF-7	breast:
3	chr14:72351174..72352836-chr14:72354712..72356317,2	MCF-7	breast:
4	chr14:72316415..72318148-chr14:72324477..72326524,2	MCF-7	breast:
5	chr14:72379036..72382191-chr14:72388206..72391072,3	MCF-7	breast:
6	chr14:72365504..72368327-chr14:72374048..72376099,2	MCF-7	breast:
7	chr14:72316626..72318854-chr14:72330259..72331802,2	MCF-7	breast:
8	chr14:72348892..72351536-chr14:72351858..72354028,2	MCF-7	breast:
9	chr14:72348892..72351536-chr14:72351858..72354028,2	MCF-7	breast:
10	chr14:72351174..72352836-chr14:72354712..72356317,2	MCF-7	breast:
11	chr14:72376887..72379251-chr14:72381622..72383147,2	MCF-7	breast:
12	chr14:72376887..72379251-chr14:72381622..72383147,2	MCF-7	breast:
13	chr14:72372812..72375508-chr14:72386588..72389272,2	MCF-7	breast:
14	chr14:72319702..72321484-chr14:72327900..72329836,2	MCF-7	breast:
15	chr14:72365504..72368327-chr14:72374048..72376099,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS6-1	chr14:72374882-72375147	ENSG00000266869.1

No data

Variant related genes	Relation type
ENSG00000266869	chromatin interactions

Extended variants
information (count: 1336 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1336 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201706602	chr14:72323834-72323835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs71105801	chr14:72323843-72323844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148360430	chr14:72323844-72323845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574372896	chr14:72323854-72323855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183700306	chr14:72323866-72323867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188223561	chr14:72323887-72323888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs578077768	chr14:72323890-72323891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545094288	chr14:72323897-72323898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148026433	chr14:72323900-72323901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2079818	chr14:72323951-72323952	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs17768054	chr14:72331609-72331610	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181911071	chr14:72331651-72331652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565181669	chr14:72331678-72331679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149875050	chr14:72331749-72331750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34044470	chr14:72336624-72336625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185927924	chr14:72336652-72336653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573746122	chr14:72336663-72336664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538320650	chr14:72336667-72336668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556544472	chr14:72336747-72336748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79805320	chr14:72336782-72336783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542597391	chr14:72336849-72336850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75610743	chr14:72336988-72336989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572983614	chr14:72336998-72336999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191251918	chr14:72337026-72337027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565043932	chr14:72337041-72337042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533468447	chr14:72337081-72337082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115663743	chr14:72337089-72337090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574112032	chr14:72337128-72337129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563711031	chr14:72337214-72337215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77363409	chr14:72337258-72337259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549436970	chr14:72337300-72337301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182575733	chr14:72337314-72337315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567931755	chr14:72337319-72337320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534973745	chr14:72337364-72337365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528787367	chr14:72338008-72338009	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs1205076	chr14:72338052-72338053	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs571552024	chr14:72338086-72338087	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs542712075	chr14:72338121-72338122	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs532565010	chr14:72338129-72338130	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs540524192	chr14:72338145-72338146	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs368843520	chr14:72338163-72338164	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs190783141	chr14:72338174-72338175	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs183016476	chr14:72338216-72338217	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs554552275	chr14:72338220-72338221	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12589741	chr14:72338221-72338222	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs36451	chr14:72338229-72338230	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs534136426	chr14:72338234-72338235	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs547167462	chr14:72338260-72338261	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs79483502	chr14:72338361-72338362	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs112554420	chr14:72338387-72338388	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	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
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72322400-72324000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr14:72322600-72324000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr14:72322800-72324000	Enhancers	Primary B cells from cord blood	blood
4	chr14:72323600-72324000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:72331600-72331800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:72336600-72337400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr14:72345000-72346200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:72346200-72346400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:72346400-72357800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:72347200-72347400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
11	chr14:72350000-72350200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:72350200-72350400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr14:72350200-72350800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr14:72350200-72351000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr14:72350200-72358000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:72351000-72351200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr14:72351000-72357800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:72351600-72351800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:72351600-72352400	Enhancers	Aorta	Aorta
20	chr14:72351800-72352200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:72352200-72353000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:72355000-72356000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
23	chr14:72356000-72356800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr14:72356800-72357000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr14:72357000-72357200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:72357000-72357400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr14:72357000-72359000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr14:72357000-72359400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr14:72357200-72358000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:72357200-72359200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:72357400-72359000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr14:72357600-72358200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr14:72357600-72358400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:72357800-72358800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr14:72357800-72359400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr14:72357800-72359800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:72357800-72360600	Enhancers	H9 Cell Line	embryonic stem cell
38	chr14:72358000-72358200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:72358000-72358200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr14:72358000-72358400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr14:72358000-72358800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:72358000-72359200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:72358000-72359400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr14:72358000-72359400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr14:72358000-72360200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr14:72358000-72360200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr14:72358000-72360200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr14:72358200-72358400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr14:72358200-72358400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr14:72358200-72359000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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