Variant report

Variant	nsv9133
Chromosome Location	chr14:35111941-35125619
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:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35098107..35100970-chr14:35116404..35118114,2	MCF-7	breast:
2	chr14:35114358..35116141-chr14:35116901..35120753,3	MCF-7	breast:
3	chr14:35107496..35110407-chr14:35118041..35119624,2	MCF-7	breast:
4	chr14:35017489..35019232-chr14:35116363..35118749,2	MCF-7	breast:
5	chr14:35103973..35106509-chr14:35117782..35119447,2	K562	blood:
6	chr14:35114973..35117245-chr14:35342771..35344725,2	K562	blood:
7	chr14:35120647..35123453-chr14:35134189..35136107,2	MCF-7	breast:
8	chr14:35103956..35105473-chr14:35117782..35120594,2	K562	blood:
9	chr14:35117978..35120935-chr14:35181287..35183685,2	MCF-7	breast:
10	chr14:35099347..35101109-chr14:35116790..35118482,2	K562	blood:
11	chr14:35118550..35121820-chr14:35125434..35129120,4	MCF-7	breast:
12	chr14:35103930..35106002-chr14:35116842..35119484,2	MCF-7	breast:
13	chr14:35114358..35116141-chr14:35116901..35120753,3	MCF-7	breast:
14	chr14:35118550..35121820-chr14:35125434..35129120,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNX6-1	chr14:35112786-35113062	uc_372_-
2	lnc-SRP54-7	chr14:35112786-35113062	uc_372_+

No data

Variant related genes	Relation type
ENSG00000258738	chromatin interactions
ENSG00000198604	chromatin interactions
ENSG00000129515	chromatin interactions
ENSG00000165410	chromatin interactions

Extended variants
information (count: 565 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:565 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546665569	chr14:35111944-35111945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560135276	chr14:35112004-35112005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4315268	chr14:35112012-35112013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375075607	chr14:35112014-35112015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113943626	chr14:35112015-35112016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28654681	chr14:35112089-35112090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529086946	chr14:35112121-35112122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549158241	chr14:35112137-35112138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186723835	chr14:35112138-35112139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4496034	chr14:35112145-35112146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12888994	chr14:35112165-35112166	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs144047626	chr14:35112172-35112173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114933983	chr14:35112201-35112202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368958086	chr14:35112259-35112260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201660681	chr14:35112260-35112261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138009515	chr14:35112261-35112262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200963177	chr14:35112262-35112263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10147059	chr14:35112337-35112338	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs566768292	chr14:35112369-35112370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112749203	chr14:35112372-35112373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574012707	chr14:35112393-35112394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76594913	chr14:35112420-35112421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76485827	chr14:35112421-35112422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536868969	chr14:35112518-35112519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76561696	chr14:35112531-35112532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576357645	chr14:35112581-35112582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545281397	chr14:35112584-35112585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539302972	chr14:35112597-35112598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577563667	chr14:35112683-35112684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140886067	chr14:35112691-35112692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373316464	chr14:35112692-35112693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528945676	chr14:35112727-35112728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542863789	chr14:35112731-35112732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562648625	chr14:35112760-35112761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567287679	chr14:35112782-35112783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112236707	chr14:35112785-35112786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551701459	chr14:35112835-35112836	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs72675277	chr14:35112845-35112846	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs59385994	chr14:35112872-35112873	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs527696387	chr14:35112929-35112930	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs150885687	chr14:35112937-35112938	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs139507671	chr14:35112945-35112946	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs193125155	chr14:35112961-35112962	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs556373778	chr14:35112974-35112975	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs569906124	chr14:35113028-35113029	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs149704366	chr14:35113045-35113046	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs558827148	chr14:35113151-35113152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550046150	chr14:35113186-35113187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146665537	chr14:35113199-35113200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553459431	chr14:35113226-35113227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Glioma	24330732	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35109000-35117000	Weak transcription	Hela-S3	cervix
2	chr14:35111600-35112800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr14:35111600-35113200	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr14:35111800-35117000	Weak transcription	Placenta	Placenta
5	chr14:35113200-35115400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr14:35115400-35116200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr14:35115600-35119200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:35115800-35116400	Bivalent Enhancer	HepG2	liver
9	chr14:35116000-35116200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:35116000-35116400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr14:35116200-35116400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr14:35117000-35117600	Bivalent Enhancer	HepG2	liver
13	chr14:35117000-35118000	Enhancers	Hela-S3	cervix
14	chr14:35117000-35121600	Enhancers	Placenta	Placenta
15	chr14:35117600-35117800	Flanking Bivalent TSS/Enh	HepG2	liver
16	chr14:35117600-35118200	Enhancers	A549	lung
17	chr14:35117600-35118200	Enhancers	K562	blood
18	chr14:35117600-35120000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:35117800-35118000	Bivalent/Poised TSS	HepG2	liver
20	chr14:35118000-35118200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr14:35118000-35118200	Flanking Active TSS	Hela-S3	cervix
22	chr14:35118000-35118200	Enhancers	Osteobl	bone
23	chr14:35118000-35118400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:35118000-35118400	Flanking Bivalent TSS/Enh	HepG2	liver
25	chr14:35118000-35118400	Enhancers	NH-A	brain
26	chr14:35118000-35120600	Enhancers	NHDF-Ad	bronchial
27	chr14:35118000-35120800	Enhancers	NHLF	lung
28	chr14:35118200-35118400	Flanking Active TSS	A549	lung
29	chr14:35118200-35118400	Enhancers	Hela-S3	cervix
30	chr14:35118200-35118400	Flanking Active TSS	K562	blood
31	chr14:35118200-35118600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr14:35118200-35118600	Flanking Active TSS	Osteobl	bone
33	chr14:35118200-35118800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:35118200-35119800	Enhancers	HSMM	muscle
35	chr14:35118200-35120200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:35118200-35120400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:35118200-35120800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:35118200-35120800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:35118200-35120800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:35118200-35120800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr14:35118200-35120800	Enhancers	HUVEC	blood vessel
42	chr14:35118200-35120800	Enhancers	NHEK	skin
43	chr14:35118200-35122400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:35118400-35118600	Enhancers	A549	lung
45	chr14:35118400-35118600	Flanking Active TSS	Hela-S3	cervix
46	chr14:35118400-35118600	Flanking Active TSS	NH-A	brain
47	chr14:35118400-35118800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:35118400-35118800	Bivalent Enhancer	HepG2	liver
49	chr14:35118400-35119400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:35118400-35120600	Enhancers	HSMMtube	muscle

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