Variant report

Variant	nsv564272
Chromosome Location	chr14:35605876-35607922
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35590804..35592605-chr14:35605460..35607939,2	K562	blood:
2	chr14:35604060..35606513-chr14:35608346..35611320,2	K562	blood:
3	chr14:35605217..35606991-chr14:35607370..35609971,2	MCF-7	breast:
4	chr14:35593860..35596443-chr14:35605517..35607732,2	MCF-7	breast:
5	chr14:35605217..35606991-chr14:35607370..35609971,2	MCF-7	breast:
6	chr14:35604150..35607008-chr14:35873146..35874686,2	MCF-7	breast:
7	chr14:35607146..35612253-chr14:35870483..35876264,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100906	chromatin interactions
ENSG00000100890	chromatin interactions
ENSG00000092020	chromatin interactions
ENSG00000258790	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:50 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4981267	chr14:35605876-35605877	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs137919771	chr14:35605914-35605915	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs554265992	chr14:35605924-35605925	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs143724145	chr14:35606006-35606007	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs201410697	chr14:35606011-35606012	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs4981268	chr14:35606016-35606017	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs532504808	chr14:35606029-35606030	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs562896474	chr14:35606127-35606128	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs185691925	chr14:35606281-35606282	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs190215757	chr14:35606312-35606313	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs193167734	chr14:35606436-35606437	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs145216150	chr14:35606478-35606479	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs185047741	chr14:35606486-35606487	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs147230667	chr14:35606567-35606568	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs562175117	chr14:35606574-35606575	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs567009460	chr14:35606594-35606595	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs148240124	chr14:35606627-35606628	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs551095008	chr14:35606633-35606634	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs370691027	chr14:35606660-35606661	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs28462285	chr14:35606810-35606811	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs188852318	chr14:35606822-35606823	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs141276504	chr14:35606832-35606833	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs548341393	chr14:35606894-35606895	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs150775307	chr14:35606930-35606931	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs535687553	chr14:35607014-35607015	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs368330596	chr14:35607064-35607065	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs555499640	chr14:35607114-35607115	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs569721626	chr14:35607144-35607145	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs181305215	chr14:35607155-35607156	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs536862622	chr14:35607157-35607158	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs114169841	chr14:35607164-35607165	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs36118561	chr14:35607205-35607206	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs139291489	chr14:35607220-35607221	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs545759173	chr14:35607223-35607224	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs568050837	chr14:35607311-35607312	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs150010121	chr14:35607318-35607319	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs146048227	chr14:35607360-35607361	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs549407604	chr14:35607387-35607388	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs74470769	chr14:35607400-35607401	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs542050589	chr14:35607408-35607409	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs533512535	chr14:35607422-35607423	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs561912461	chr14:35607442-35607443	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs530718068	chr14:35607481-35607482	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs143879049	chr14:35607561-35607562	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs146888628	chr14:35607583-35607584	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs533194576	chr14:35607623-35607624	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs185428960	chr14:35607680-35607681	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs7144822	chr14:35607713-35607714	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs570417340	chr14:35607726-35607727	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs7145645	chr14:35607922-35607923	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:58)

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

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35592600-35625200	Weak transcription	Small Intestine	intestine
2	chr14:35592800-35611000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:35593000-35610200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:35593000-35613400	Weak transcription	Stomach Mucosa	stomach
5	chr14:35593000-35638200	Weak transcription	Fetal Brain Male	brain
6	chr14:35593000-35660400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:35593200-35625200	Weak transcription	NH-A	brain
8	chr14:35593200-35625600	Weak transcription	Colon Smooth Muscle	Colon
9	chr14:35593200-35627800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:35593200-35635400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:35593400-35613200	Weak transcription	Osteobl	bone
12	chr14:35593400-35617200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:35594000-35615800	Weak transcription	HUVEC	blood vessel
14	chr14:35594400-35629000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr14:35594600-35609600	Weak transcription	Colonic Mucosa	Colon
16	chr14:35595200-35613200	Weak transcription	K562	blood
17	chr14:35596000-35623600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr14:35597400-35625000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:35597600-35625000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr14:35597800-35615400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:35598000-35609800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:35599400-35607200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:35601400-35606000	Strong transcription	Thymus	Thymus
24	chr14:35601400-35607600	Strong transcription	Fetal Muscle Leg	muscle
25	chr14:35601400-35609200	Strong transcription	Fetal Thymus	thymus
26	chr14:35601600-35607400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:35601600-35609600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr14:35602000-35606600	Strong transcription	Primary T cells from cord blood	blood
29	chr14:35602000-35609600	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr14:35602400-35609200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:35602800-35606000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:35603000-35607400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr14:35603000-35609400	Strong transcription	HepG2	liver
34	chr14:35603000-35625200	Weak transcription	HSMM	muscle
35	chr14:35603200-35606000	Strong transcription	Fetal Intestine Small	intestine
36	chr14:35603200-35609200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr14:35603200-35623200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr14:35603200-35663400	Weak transcription	Fetal Lung	lung
39	chr14:35603400-35625200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr14:35603600-35607200	Strong transcription	GM12878-XiMat	blood
41	chr14:35603600-35621600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr14:35604000-35606400	Weak transcription	Right Atrium	heart
43	chr14:35604000-35609400	Weak transcription	NHLF	lung
44	chr14:35604000-35624400	Weak transcription	NHEK	skin
45	chr14:35604200-35607000	Weak transcription	Left Ventricle	heart
46	chr14:35604200-35609600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:35604200-35611400	Weak transcription	Dnd41	blood
48	chr14:35604200-35613000	Weak transcription	Brain Germinal Matrix	brain
49	chr14:35604200-35613800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:35604200-35615200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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