Variant report

Variant	nsv564315
Chromosome Location	chr14:35684196-35703839
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:55)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:35698505..35699335-chr14:35882619..35883340,2	MCF-7	breast:
2	chr14:35688326..35690057-chr14:35697484..35700212,2	MCF-7	breast:
3	chr14:35691799..35693789-chr14:35869407..35870922,2	MCF-7	breast:
4	chr14:35686289..35689238-chr14:35690846..35692653,2	K562	blood:
5	chr14:35683362..35686230-chr14:35702094..35703639,2	MCF-7	breast:
6	chr14:35683362..35686230-chr14:35702094..35703639,2	MCF-7	breast:
7	chr14:35680464..35682083-chr14:35684601..35686665,2	MCF-7	breast:
8	chr14:35700471..35702762-chr14:35811850..35814628,2	MCF-7	breast:
9	chr14:35698279..35702159-chr14:35801289..35806332,5	MCF-7	breast:
10	chr14:35700495..35703278-chr14:35704050..35706629,2	K562	blood:
11	chr14:35695193..35706000-chr14:35866255..35879159,42	MCF-7	breast:
12	chr14:35687707..35690246-chr14:35690578..35692404,2	MCF-7	breast:
13	chr14:35683888..35684924-chr14:35876205..35876767,3	MCF-7	breast:
14	chr14:35683180..35685889-chr14:35867098..35869368,3	MCF-7	breast:
15	chr14:35517575..35519344-chr14:35683138..35684908,2	MCF-7	breast:
16	chr14:35694745..35697043-chr14:35701937..35704486,2	MCF-7	breast:
17	chr14:35701570..35704183-chr14:35804617..35807506,4	MCF-7	breast:
18	chr14:35689499..35691872-chr14:35695330..35698376,3	MCF-7	breast:
19	chr14:35687707..35690246-chr14:35690578..35692404,2	MCF-7	breast:
20	chr14:35681343..35684647-chr14:35685694..35689200,4	MCF-7	breast:
21	chr14:35684347..35686206-chr14:35759187..35761386,2	MCF-7	breast:
22	chr14:35689608..35693753-chr14:35865249..35869361,6	MCF-7	breast:
23	chr14:35698655..35699325-chr14:35875858..35876791,2	K562	blood:
24	chr14:35688376..35688913-chr14:35891258..35892170,2	K562	blood:
25	chr14:35686093..35688044-chr14:35873715..35875842,2	MCF-7	breast:
26	chr14:35698922..35700571-chr14:35810245..35812248,2	MCF-7	breast:
27	chr14:35682480..35684429-chr17:58753496..58755947,2	MCF-7	breast:
28	chr14:35688349..35704994-chr14:35861790..35878218,62	MCF-7	breast:
29	chr14:35686289..35689238-chr14:35690846..35692653,2	K562	blood:
30	chr14:35698728..35701038-chr14:35871807..35874064,2	K562	blood:
31	chr14:35698439..35699139-chr14:35882158..35883164,4	MCF-7	breast:
32	chr14:35699579..35702448-chr14:35709536..35711264,2	MCF-7	breast:
33	chr14:35694745..35697043-chr14:35701937..35704486,2	MCF-7	breast:
34	chr14:35681682..35685352-chr14:35808762..35812906,3	MCF-7	breast:
35	chr14:35701633..35705447-chr14:35760005..35763215,4	MCF-7	breast:
36	chr14:35689499..35691872-chr14:35695330..35698376,3	MCF-7	breast:
37	chr14:35680958..35685764-chr14:35872472..35876074,7	MCF-7	breast:
38	chr14:35701125..35703592-chr14:35762146..35764422,2	MCF-7	breast:
39	chr14:35684138..35684885-chr14:35882171..35883033,3	MCF-7	breast:
40	chr14:35630047..35632589-chr14:35700698..35702553,2	MCF-7	breast:
41	chr14:35688537..35690665-chr14:35760746..35762311,2	MCF-7	breast:
42	chr14:35702282..35704520-chr14:35800753..35803790,5	MCF-7	breast:
43	chr14:35683927..35684734-chr14:35875633..35876485,2	MCF-7	breast:
44	chr14:35701265..35703150-chr14:35798175..35799719,2	MCF-7	breast:
45	chr14:35688941..35691439-chr14:35716657..35719579,2	MCF-7	breast:
46	chr14:35678489..35680179-chr14:35680593..35684377,3	MCF-7	breast:
47	chr14:35680408..35687771-chr14:35868773..35877509,15	MCF-7	breast:
48	chr14:35688330..35694959-chr14:35872168..35876310,11	MCF-7	breast:
49	chr14:35689551..35692151-chr14:35760450..35762726,3	MCF-7	breast:
50	chr14:35698822..35700476-chr14:35705196..35707061,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP2R3C-4	chr14:35690827-35691028	l_962_chr14:35668508-35676460_thyroid
2	lnc-PPP2R3C-4	chr14:35692695-35692853	l_962_chr14:35668508-35676460_thyroid
3	lnc-PPP2R3C-4	chr14:35701581-35701640	l_962_chr14:35668508-35676460_thyroid
4	lnc-RP11-173D9.3.1-3	chr14:35700900-35700969	l_963_chr14:35700899-35775195_brain
5	lnc-PPP2R3C-4	chr14:35691819-35692693	l_962_chr14:35668508-35676460_thyroid
6	lnc-RP11-173D9.3.1-3	chr14:35703077-35703223	l_963_chr14:35700899-35775195_brain
7	lnc-PPP2R3C-4	chr14:35693328-35695629	l_962_chr14:35668508-35676460_thyroid

No data

Variant related genes	Relation type
ENSG00000141376	chromatin interactions
ENSG00000100906	chromatin interactions
ENSG00000100902	chromatin interactions
ENSG00000256243	chromatin interactions
ENSG00000265530	chromatin interactions

Extended variants
information (count: 696 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:696 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376592147	chr14:35684208-35684209	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs536247990	chr14:35684252-35684253	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs541435045	chr14:35684267-35684268	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs549937413	chr14:35684278-35684279	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs568617590	chr14:35684295-35684296	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs188204186	chr14:35684308-35684309	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs557559901	chr14:35684311-35684312	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs111287675	chr14:35684312-35684313	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs573345559	chr14:35684387-35684388	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs555385175	chr14:35684415-35684416	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs533533598	chr14:35684430-35684431	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs143467825	chr14:35684491-35684492	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs573948905	chr14:35684517-35684518	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs192433219	chr14:35684522-35684523	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs61989546	chr14:35684652-35684653	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs576146788	chr14:35684721-35684722	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs184568717	chr14:35684730-35684731	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs565210897	chr14:35684781-35684782	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs527717037	chr14:35684783-35684784	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs7153693	chr14:35684792-35684793	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs115147513	chr14:35684809-35684810	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs530285661	chr14:35684845-35684846	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs187485353	chr14:35684866-35684867	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs146745825	chr14:35684913-35684914	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs28420123	chr14:35684918-35684919	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs551483062	chr14:35684933-35684934	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs116431248	chr14:35684940-35684941	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs139434484	chr14:35684968-35684969	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs77514397	chr14:35684974-35684975	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs553754545	chr14:35684976-35684977	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs74518589	chr14:35684978-35684979	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs536589690	chr14:35684981-35684982	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs368522779	chr14:35684984-35684985	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs535547630	chr14:35684988-35684989	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs576210945	chr14:35684993-35684994	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs564027663	chr14:35685007-35685008	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs559022724	chr14:35685011-35685012	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs528095345	chr14:35685012-35685013	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs146684256	chr14:35685048-35685049	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs562419227	chr14:35685059-35685060	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs146498168	chr14:35685092-35685093	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs192547482	chr14:35685113-35685114	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs541032517	chr14:35685130-35685131	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs111548414	chr14:35685162-35685163	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs149163758	chr14:35685179-35685180	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs530028774	chr14:35685242-35685243	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs372760307	chr14:35685243-35685244	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs563618356	chr14:35685260-35685261	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs76435440	chr14:35685263-35685264	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs375053172	chr14:35685305-35685306	Weak transcription	Chromatin interactive region	2 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:274 , 50 per page) page: 1 2 3 4 5 6

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	chr14:35655800-35691800	Weak transcription	Psoas Muscle	Psoas
5	chr14:35661000-35690000	Weak transcription	Fetal Stomach	stomach
6	chr14:35661000-35736400	Weak transcription	Fetal Intestine Small	intestine
7	chr14:35670800-35691800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr14:35672000-35742200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:35672200-35690200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:35672200-35700000	Weak transcription	Thymus	Thymus
11	chr14:35673200-35688400	Weak transcription	Fetal Thymus	thymus
12	chr14:35673400-35688200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr14:35673600-35691200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr14:35674400-35698600	Weak transcription	Dnd41	blood
15	chr14:35674400-35699600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr14:35674400-35711200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr14:35674800-35688000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr14:35674800-35737000	Weak transcription	Lung	lung
19	chr14:35675600-35691400	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr14:35675600-35692200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr14:35675600-35699200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:35678000-35719600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr14:35679600-35699400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr14:35679800-35692000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:35679800-35699800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:35680000-35698600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:35680200-35691600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr14:35680400-35691800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:35680800-35688200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr14:35680800-35729800	Weak transcription	Primary B cells from cord blood	blood
31	chr14:35681000-35729800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr14:35681400-35684400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:35681600-35685000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:35681600-35690800	Weak transcription	Aorta	Aorta
35	chr14:35681800-35684600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:35682000-35684800	Enhancers	HepG2	liver
37	chr14:35682000-35684800	Enhancers	HMEC	breast
38	chr14:35682200-35684600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr14:35682200-35684600	Enhancers	HSMM	muscle
40	chr14:35682200-35685000	Enhancers	A549	lung
41	chr14:35682400-35685000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr14:35682600-35684600	Enhancers	NHEK	skin
43	chr14:35682600-35685000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:35682600-35685000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:35682600-35688000	Weak transcription	Primary T cells from cord blood	blood
46	chr14:35682800-35684400	Enhancers	NHDF-Ad	bronchial
47	chr14:35682800-35684600	Enhancers	Osteobl	bone
48	chr14:35682800-35684800	Enhancers	HUVEC	blood vessel
49	chr14:35683000-35684400	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr14:35683000-35685200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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