Variant report

Variant	nsv902214
Chromosome Location	chr14:97643737-97864860
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:45)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:97643292..97643925-chr14:97717949..97718598,2	MCF-7	breast:
2	chr14:97651305..97652128-chr14:98050658..98051527,2	MCF-7	breast:
3	chr14:97847279..97849816-chr14:97853991..97855941,2	K562	blood:
4	chr14:97773582..97775840-chr14:97784279..97786173,2	K562	blood:
5	chr14:97670920..97672473-chr14:97709312..97711136,2	K562	blood:
6	chr14:97764275..97766451-chr14:97769406..97772010,2	K562	blood:
7	chr14:97773582..97775840-chr14:97784279..97786173,2	K562	blood:
8	chr14:97787267..97788972-chr14:97792409..97794274,2	K562	blood:
9	chr14:97671104..97673006-chr14:97674619..97676270,2	K562	blood:
10	chr14:97651280..97652184-chr14:97764384..97765754,4	MCF-7	breast:
11	chr14:97860044..97862976-chr14:97863055..97864766,2	K562	blood:
12	chr14:97764275..97766451-chr14:97769406..97772010,2	K562	blood:
13	chr14:97787267..97788972-chr14:97792409..97794274,2	K562	blood:
14	chr14:97838075..97838971-chr14:97966332..97966995,3	MCF-7	breast:
15	chr14:97778710..97780839-chr14:97781234..97783526,2	MCF-7	breast:
16	chr14:97050353..97051095-chr14:97764453..97765380,2	MCF-7	breast:
17	chr14:97651671..97652701-chr14:99740847..99741626,3	MCF-7	breast:
18	chr14:97651280..97652184-chr14:97764384..97765754,4	MCF-7	breast:
19	chr14:97717634..97718490-chr14:98050624..98051580,2	MCF-7	breast:
20	chr14:97671104..97673006-chr14:97674619..97676270,2	K562	blood:
21	chr14:97697038..97699980-chr14:97703722..97706302,2	MCF-7	breast:
22	chr14:97643292..97643925-chr14:97717949..97718598,2	MCF-7	breast:
23	chr14:97665245..97667832-chr14:97669943..97672541,2	MCF-7	breast:
24	chr14:97767536..97770149-chr14:97771082..97773749,2	MCF-7	breast:
25	chr14:97843055..97845011-chr14:97845093..97847997,3	MCF-7	breast:
26	chr14:97651485..97652238-chr14:98050652..98051540,4	MCF-7	breast:
27	chr14:97843055..97845011-chr14:97845093..97847997,3	MCF-7	breast:
28	chr14:97717920..97718671-chr14:98050570..98051161,2	MCF-7	breast:
29	chr14:97697038..97699980-chr14:97703722..97706302,2	MCF-7	breast:
30	chr14:97745906..97747938-chr14:97751482..97753019,2	K562	blood:
31	chr14:97860044..97862976-chr14:97863055..97864766,2	K562	blood:
32	chr14:97817458..97817977-chr14:98050630..98051500,2	MCF-7	breast:
33	chr14:97670920..97672473-chr14:97709312..97711136,2	K562	blood:
34	chr14:97847279..97849816-chr14:97853991..97855941,2	K562	blood:
35	chr14:97745906..97747938-chr14:97751482..97753019,2	K562	blood:
36	chr14:97751007..97753663-chr14:97754837..97757487,2	K562	blood:
37	chr14:97651095..97652058-chr14:97739587..97740524,3	MCF-7	breast:
38	chr14:97651095..97652058-chr14:97739587..97740524,3	MCF-7	breast:
39	chr14:97838078..97838923-chr14:97966248..97967124,3	MCF-7	breast:
40	chr14:97639064..97641431-chr14:97643207..97645082,2	K562	blood:
41	chr14:97778710..97780839-chr14:97781234..97783526,2	MCF-7	breast:
42	chr14:97050494..97051205-chr14:97646447..97647466,5	MCF-7	breast:
43	chr14:97665245..97667832-chr14:97669943..97672541,2	MCF-7	breast:
44	chr14:97767536..97770149-chr14:97771082..97773749,2	MCF-7	breast:
45	chr14:97751007..97753663-chr14:97754837..97757487,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VRK1-8	chr14:97698536-97698658	l_1054_chr14:97672173-97698658_whiteBloodCell
2	lnc-VRK1-8	chr14:97672174-97672287	l_1054_chr14:97672173-97698658_whiteBloodCell

No data

Extended variants
information (count: 6849 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:6849 , 50 per page) page: 1 2 3 4 5 6 7 ... 137

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8006234	chr14:97643737-97643738	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555647137	chr14:97643768-97643769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183815358	chr14:97643779-97643780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535960275	chr14:97643825-97643826	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114346964	chr14:97643833-97643834	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61980130	chr14:97643900-97643901	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs551169702	chr14:97643957-97643958	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189178715	chr14:97643961-97643962	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576357970	chr14:97643973-97643974	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145907527	chr14:97643979-97643980	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192879773	chr14:97644028-97644029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185109202	chr14:97644086-97644087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560422433	chr14:97644088-97644089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527477435	chr14:97644089-97644090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540772504	chr14:97644119-97644120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574097934	chr14:97644120-97644121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559274745	chr14:97644142-97644143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532806050	chr14:97644186-97644187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567740853	chr14:97644208-97644209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7149560	chr14:97644219-97644220	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs138464375	chr14:97644233-97644234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549158387	chr14:97644244-97644245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs59978510	chr14:97644266-97644267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144008533	chr14:97644286-97644287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7149736	chr14:97644287-97644288	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs146896379	chr14:97644305-97644306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138946419	chr14:97644314-97644315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189077950	chr14:97644395-97644396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557779759	chr14:97644423-97644424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149339036	chr14:97644432-97644433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543718739	chr14:97644536-97644537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373750246	chr14:97644548-97644549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573919054	chr14:97644555-97644556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541088418	chr14:97644566-97644567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144672680	chr14:97644601-97644602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533094405	chr14:97644673-97644674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544668343	chr14:97644684-97644685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191675920	chr14:97644696-97644697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564130488	chr14:97644702-97644703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184231379	chr14:97644751-97644752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148519662	chr14:97644763-97644764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142834755	chr14:97644773-97644774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528256344	chr14:97644828-97644829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17095072	chr14:97644829-97644830	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs566038922	chr14:97644847-97644848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539966385	chr14:97644848-97644849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557692178	chr14:97644907-97644908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17784417	chr14:97644927-97644928	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs537321337	chr14:97644930-97644931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139901655	chr14:97644948-97644949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	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
Basal cell lymphoma	17053054	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
Glioblastoma	21080181	CNVD
Cancer	20164920	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
Breast cancer	21509527	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	17426248	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Breast cancer	21364760	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:1244 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97643200-97644000	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr14:97643400-97644600	Enhancers	Primary B cells from peripheral blood	blood
3	chr14:97643600-97643800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr14:97643600-97643800	Enhancers	NHEK	skin
5	chr14:97643600-97644200	Enhancers	Primary T cells from cord blood	blood
6	chr14:97643600-97644200	Enhancers	Thymus	Thymus
7	chr14:97643600-97645400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr14:97643600-97646000	Enhancers	Fetal Thymus	thymus
9	chr14:97643600-97646800	Enhancers	Dnd41	blood
10	chr14:97643600-97647000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr14:97643600-97647000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:97643800-97644000	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr14:97643800-97644000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:97643800-97644200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr14:97643800-97644400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr14:97643800-97644600	Enhancers	GM12878-XiMat	blood
17	chr14:97643800-97645000	Enhancers	NHDF-Ad	bronchial
18	chr14:97643800-97645200	Weak transcription	NHEK	skin
19	chr14:97644000-97645000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr14:97644000-97645000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr14:97644000-97645200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:97644000-97647200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:97644200-97645000	Weak transcription	Primary T cells from cord blood	blood
24	chr14:97644200-97645200	Weak transcription	Thymus	Thymus
25	chr14:97644200-97646400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr14:97644400-97645200	Enhancers	Osteobl	bone
27	chr14:97644400-97645600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr14:97644600-97645400	Enhancers	Primary B cells from cord blood	blood
29	chr14:97644600-97646400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr14:97645000-97645200	Enhancers	Primary T cells from cord blood	blood
31	chr14:97645000-97645200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:97645000-97645400	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr14:97645000-97646000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr14:97645000-97646200	Weak transcription	NHDF-Ad	bronchial
35	chr14:97645200-97645600	Enhancers	NH-A	brain
36	chr14:97645200-97645800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:97645200-97646000	Enhancers	Thymus	Thymus
38	chr14:97645200-97646400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:97645200-97646400	Weak transcription	Osteobl	bone
40	chr14:97645200-97647200	Enhancers	NHEK	skin
41	chr14:97645200-97650200	Weak transcription	Primary T cells from cord blood	blood
42	chr14:97645600-97645800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr14:97645600-97646000	Weak transcription	NH-A	brain
44	chr14:97645600-97647400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:97645800-97646200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr14:97645800-97646200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:97646000-97647200	Enhancers	NH-A	brain
48	chr14:97646000-97647400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr14:97646000-97651800	Weak transcription	Fetal Thymus	thymus
50	chr14:97646200-97646600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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