Variant report

Variant	nsv433275
Chromosome Location	chr14:35108886-35119976
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:13)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35098107..35100970-chr14:35116404..35118114,2	MCF-7	breast:
2	chr14:35107496..35110407-chr14:35118041..35119624,2	MCF-7	breast:
3	chr14:35114358..35116141-chr14:35116901..35120753,3	MCF-7	breast:
4	chr14:35099347..35101109-chr14:35116790..35118482,2	K562	blood:
5	chr14:35114358..35116141-chr14:35116901..35120753,3	MCF-7	breast:
6	chr14:35103973..35106509-chr14:35117782..35119447,2	K562	blood:
7	chr14:35017489..35019232-chr14:35116363..35118749,2	MCF-7	breast:
8	chr14:35107496..35110407-chr14:35118041..35119624,2	MCF-7	breast:
9	chr14:35114973..35117245-chr14:35342771..35344725,2	K562	blood:
10	chr14:35103956..35105473-chr14:35117782..35120594,2	K562	blood:
11	chr14:35103930..35106002-chr14:35116842..35119484,2	MCF-7	breast:
12	chr14:35118550..35121820-chr14:35125434..35129120,4	MCF-7	breast:
13	chr14:35117978..35120935-chr14:35181287..35183685,2	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
ENSG00000129515	chromatin interactions
ENSG00000165410	chromatin interactions
ENSG00000258738	chromatin interactions
ENSG00000198604	chromatin interactions

Extended variants
information (count: 447 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7161260	chr14:35108886-35108887	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573122835	chr14:35108918-35108919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543356661	chr14:35108986-35108987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72675270	chr14:35108987-35108988	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576683345	chr14:35108993-35108994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7144356	chr14:35109038-35109039	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs559303541	chr14:35109118-35109119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548326304	chr14:35109145-35109146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375628506	chr14:35109170-35109171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573783616	chr14:35109171-35109172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528622779	chr14:35109178-35109179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117910623	chr14:35109186-35109187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562356266	chr14:35109207-35109208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562520691	chr14:35109209-35109210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531016298	chr14:35109217-35109218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551156132	chr14:35109218-35109219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571176552	chr14:35109241-35109242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540109911	chr14:35109271-35109272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564392569	chr14:35109281-35109282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10711176	chr14:35109284-35109285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552229864	chr14:35109327-35109328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565523452	chr14:35109338-35109339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140174607	chr14:35109369-35109370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554363401	chr14:35109372-35109373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185430814	chr14:35109415-35109416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145704275	chr14:35109419-35109420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576009077	chr14:35109451-35109452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576757708	chr14:35109472-35109473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545680303	chr14:35109473-35109474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559740399	chr14:35109489-35109490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77428862	chr14:35109561-35109562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370657244	chr14:35109570-35109571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562051927	chr14:35109584-35109585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189746093	chr14:35109615-35109616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544842290	chr14:35109641-35109642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551488823	chr14:35109651-35109652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140922796	chr14:35109656-35109657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149894509	chr14:35109688-35109689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547303512	chr14:35109700-35109701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565713908	chr14:35109730-35109731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528075168	chr14:35109792-35109793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568519126	chr14:35109808-35109809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549010956	chr14:35109824-35109825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144956299	chr14:35109829-35109830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149025893	chr14:35109874-35109875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536729834	chr14:35109893-35109894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180681308	chr14:35109894-35109895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs8008650	chr14:35109895-35109896	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs186353845	chr14:35109961-35109962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532294650	chr14:35109990-35109991	Enhancers 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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35108200-35111800	Enhancers	Placenta	Placenta
2	chr14:35108600-35109000	Enhancers	Hela-S3	cervix
3	chr14:35109000-35117000	Weak transcription	Hela-S3	cervix
4	chr14:35110000-35110800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:35110200-35110600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:35110200-35110800	Enhancers	K562	blood
7	chr14:35110200-35110800	Enhancers	Osteobl	bone
8	chr14:35110400-35110800	Enhancers	A549	lung
9	chr14:35110600-35111000	Enhancers	Fetal Muscle Trunk	muscle
10	chr14:35111600-35112800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr14:35111600-35113200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr14:35111800-35117000	Weak transcription	Placenta	Placenta
13	chr14:35113200-35115400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr14:35115400-35116200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr14:35115600-35119200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:35115800-35116400	Bivalent Enhancer	HepG2	liver
17	chr14:35116000-35116200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:35116000-35116400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr14:35116200-35116400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr14:35117000-35117600	Bivalent Enhancer	HepG2	liver
21	chr14:35117000-35118000	Enhancers	Hela-S3	cervix
22	chr14:35117000-35121600	Enhancers	Placenta	Placenta
23	chr14:35117600-35117800	Flanking Bivalent TSS/Enh	HepG2	liver
24	chr14:35117600-35118200	Enhancers	A549	lung
25	chr14:35117600-35118200	Enhancers	K562	blood
26	chr14:35117600-35120000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:35117800-35118000	Bivalent/Poised TSS	HepG2	liver
28	chr14:35118000-35118200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr14:35118000-35118200	Flanking Active TSS	Hela-S3	cervix
30	chr14:35118000-35118200	Enhancers	Osteobl	bone
31	chr14:35118000-35118400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:35118000-35118400	Flanking Bivalent TSS/Enh	HepG2	liver
33	chr14:35118000-35118400	Enhancers	NH-A	brain
34	chr14:35118000-35120600	Enhancers	NHDF-Ad	bronchial
35	chr14:35118000-35120800	Enhancers	NHLF	lung
36	chr14:35118200-35118400	Flanking Active TSS	A549	lung
37	chr14:35118200-35118400	Enhancers	Hela-S3	cervix
38	chr14:35118200-35118400	Flanking Active TSS	K562	blood
39	chr14:35118200-35118600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr14:35118200-35118600	Flanking Active TSS	Osteobl	bone
41	chr14:35118200-35118800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:35118200-35119800	Enhancers	HSMM	muscle
43	chr14:35118200-35120200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:35118200-35120400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr14:35118200-35120800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:35118200-35120800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:35118200-35120800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:35118200-35120800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr14:35118200-35120800	Enhancers	HUVEC	blood vessel
50	chr14:35118200-35120800	Enhancers	NHEK	skin

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