Variant report

Variant	nsv564316
Chromosome Location	chr14:35693848-35702857
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:26)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35699017..35701574-chr14:35761450..35763007,2	MCF-7	breast:
2	chr14:35701265..35703150-chr14:35798175..35799719,2	MCF-7	breast:
3	chr14:35701570..35704183-chr14:35804617..35807506,4	MCF-7	breast:
4	chr14:35700471..35702762-chr14:35811850..35814628,2	MCF-7	breast:
5	chr14:35688330..35694959-chr14:35872168..35876310,11	MCF-7	breast:
6	chr14:35683362..35686230-chr14:35702094..35703639,2	MCF-7	breast:
7	chr14:35698439..35699139-chr14:35882158..35883164,4	MCF-7	breast:
8	chr14:35698728..35701038-chr14:35871807..35874064,2	K562	blood:
9	chr14:35699579..35702448-chr14:35709536..35711264,2	MCF-7	breast:
10	chr14:35702282..35704520-chr14:35800753..35803790,5	MCF-7	breast:
11	chr14:35695193..35706000-chr14:35866255..35879159,42	MCF-7	breast:
12	chr14:35698505..35699335-chr14:35882619..35883340,2	MCF-7	breast:
13	chr14:35698279..35702159-chr14:35801289..35806332,5	MCF-7	breast:
14	chr14:35688326..35690057-chr14:35697484..35700212,2	MCF-7	breast:
15	chr14:35701633..35705447-chr14:35760005..35763215,4	MCF-7	breast:
16	chr14:35698822..35700476-chr14:35705196..35707061,2	MCF-7	breast:
17	chr14:35698655..35699325-chr14:35875858..35876791,2	K562	blood:
18	chr14:35701125..35703592-chr14:35762146..35764422,2	MCF-7	breast:
19	chr14:35700495..35703278-chr14:35704050..35706629,2	K562	blood:
20	chr14:35689499..35691872-chr14:35695330..35698376,3	MCF-7	breast:
21	chr14:35694745..35697043-chr14:35701937..35704486,2	MCF-7	breast:
22	chr14:35688349..35704994-chr14:35861790..35878218,62	MCF-7	breast:
23	chr14:35694745..35697043-chr14:35701937..35704486,2	MCF-7	breast:
24	chr14:35698922..35700571-chr14:35810245..35812248,2	MCF-7	breast:
25	chr14:35698917..35700420-chr14:35714304..35715826,2	MCF-7	breast:
26	chr14:35630047..35632589-chr14:35700698..35702553,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP2R3C-4	chr14:35693328-35695629	l_962_chr14:35668508-35676460_thyroid
2	lnc-PPP2R3C-4	chr14:35701581-35701640	l_962_chr14:35668508-35676460_thyroid
3	lnc-RP11-173D9.3.1-3	chr14:35700900-35700969	l_963_chr14:35700899-35775195_brain

No data

Variant related genes	Relation type
ENSG00000100902	chromatin interactions
ENSG00000265530	chromatin interactions
ENSG00000256243	chromatin interactions
ENSG00000100906	chromatin interactions

Extended variants
information (count: 314 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7154775	chr14:35693848-35693849	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138418016	chr14:35693857-35693858	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs527338645	chr14:35693872-35693873	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs148016640	chr14:35693898-35693899	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs11847715	chr14:35694026-35694027	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs75143810	chr14:35694047-35694048	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs141649474	chr14:35694092-35694093	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs549840258	chr14:35694104-35694105	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs373171335	chr14:35694110-35694111	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs569896401	chr14:35694208-35694209	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs191393464	chr14:35694238-35694239	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs577484398	chr14:35694266-35694267	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs532230423	chr14:35694280-35694281	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs146181511	chr14:35694292-35694293	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs372155724	chr14:35694297-35694298	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs11156876	chr14:35694351-35694352	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs137897288	chr14:35694377-35694378	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs573553931	chr14:35694463-35694464	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs142648415	chr14:35694493-35694494	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs368408128	chr14:35694498-35694499	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs144106537	chr14:35694499-35694500	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs555971812	chr14:35694551-35694552	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs537439303	chr14:35694566-35694567	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs35739584	chr14:35694569-35694570	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs148695626	chr14:35694578-35694579	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs577418334	chr14:35694606-35694607	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs577348757	chr14:35694615-35694616	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs544727058	chr14:35694630-35694631	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs553641776	chr14:35694634-35694635	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs538495707	chr14:35694656-35694657	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs183444283	chr14:35694665-35694666	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs561022686	chr14:35694672-35694673	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs529672678	chr14:35694678-35694679	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs543376002	chr14:35694702-35694703	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs142140715	chr14:35694707-35694708	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs200140736	chr14:35694708-35694709	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs552043677	chr14:35694758-35694759	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs187121435	chr14:35694773-35694774	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs189975913	chr14:35694794-35694795	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs182180394	chr14:35694842-35694843	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs150773696	chr14:35694845-35694846	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs553628766	chr14:35694992-35694993	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs78594743	chr14:35695040-35695041	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs570745555	chr14:35695064-35695065	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs540180523	chr14:35695073-35695074	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs73237002	chr14:35695083-35695084	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs573510706	chr14:35695103-35695104	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs139970473	chr14:35695160-35695161	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs8008319	chr14:35695181-35695182	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs373953812	chr14:35695202-35695203	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Acute lymphoblastic leukemia	20067559	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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21858162	CNVD
Lung cancer	21569311	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Lung adenocarcinoma	17982442	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35643400-35724000	Weak transcription	Left Ventricle	heart
2	chr14:35650600-35702600	Weak transcription	Liver	Liver
3	chr14:35650800-35707800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:35661000-35736400	Weak transcription	Fetal Intestine Small	intestine
5	chr14:35672000-35742200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:35672200-35700000	Weak transcription	Thymus	Thymus
7	chr14:35674400-35698600	Weak transcription	Dnd41	blood
8	chr14:35674400-35699600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr14:35674400-35711200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr14:35674800-35737000	Weak transcription	Lung	lung
11	chr14:35675600-35699200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:35678000-35719600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr14:35679600-35699400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr14:35679800-35699800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:35680000-35698600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:35680800-35729800	Weak transcription	Primary B cells from cord blood	blood
17	chr14:35681000-35729800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:35684000-35706800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:35684600-35699000	Weak transcription	GM12878-XiMat	blood
20	chr14:35684600-35737000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:35684600-35760800	Weak transcription	HSMM	muscle
22	chr14:35684800-35703000	Weak transcription	HMEC	breast
23	chr14:35685000-35699800	Weak transcription	Fetal Lung	lung
24	chr14:35685200-35698800	Weak transcription	Hela-S3	cervix
25	chr14:35686800-35735800	Weak transcription	Fetal Intestine Large	intestine
26	chr14:35687400-35716400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:35688600-35699000	Weak transcription	Fetal Thymus	thymus
28	chr14:35688800-35699400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr14:35689000-35699000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr14:35690200-35730000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:35690600-35735800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:35690800-35699000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr14:35691000-35698200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:35691000-35702600	Weak transcription	NHDF-Ad	bronchial
35	chr14:35691000-35702800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:35691200-35735800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:35691600-35698800	Weak transcription	Primary T cells from cord blood	blood
38	chr14:35691800-35699000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr14:35691800-35699600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:35692000-35699800	Weak transcription	HepG2	liver
41	chr14:35692400-35698800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:35692400-35699800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr14:35692400-35699800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr14:35692600-35700400	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr14:35693000-35694200	Enhancers	HUVEC	blood vessel
46	chr14:35693400-35694600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr14:35693400-35699400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr14:35693400-35700000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr14:35693600-35694200	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr14:35693600-35695200	Weak transcription	Osteobl	bone

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