Variant report

Variant	esv3327974
Chromosome Location	chr14:35850251-35852249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35834445..35839728-chr14:35850287..35856081,6	K562	blood:
2	chr14:35848385..35850629-chr14:35871600..35874333,2	K562	blood:
3	chr14:35850100..35852410-chr14:35853864..35856080,2	K562	blood:

Variant related genes	Relation type
ENSG00000100906	chromatin interactions

Extended variants
information (count: 115 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537275215	chr14:35850288-35850289	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs76042891	chr14:35850340-35850341	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs144815306	chr14:35850344-35850345	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs554647064	chr14:35850394-35850395	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs188016837	chr14:35850409-35850410	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570523831	chr14:35850454-35850455	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs4611365	chr14:35850479-35850480	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs4304944	chr14:35850486-35850487	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs2415289	chr14:35850508-35850509	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs150106262	chr14:35850529-35850530	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs192819373	chr14:35850557-35850558	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs575516268	chr14:35850602-35850603	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs201645654	chr14:35850614-35850615	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs370701900	chr14:35850615-35850616	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs117218687	chr14:35850616-35850617	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564364636	chr14:35850754-35850755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533332764	chr14:35850760-35850761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184532741	chr14:35850795-35850796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138473922	chr14:35850858-35850859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148819693	chr14:35850875-35850876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574761994	chr14:35850908-35850909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147930174	chr14:35850934-35850935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71404858	chr14:35850940-35850941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148961726	chr14:35850945-35850946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12894183	chr14:35850950-35850951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541924038	chr14:35850959-35850960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372903161	chr14:35850960-35850961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12896821	chr14:35850963-35850964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369054698	chr14:35850966-35850967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550858162	chr14:35850972-35850973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570634478	chr14:35850973-35850974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs36151206	chr14:35850990-35850991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112750335	chr14:35850994-35850995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539211621	chr14:35850996-35850997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553478322	chr14:35850999-35851000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542141718	chr14:35851011-35851012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371754299	chr14:35851024-35851025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376742490	chr14:35851026-35851027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369599122	chr14:35851028-35851029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376030721	chr14:35851032-35851033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374267665	chr14:35851035-35851036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71421933	chr14:35851038-35851039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12896847	chr14:35851039-35851040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530393072	chr14:35851041-35851042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111494716	chr14:35851042-35851043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562215020	chr14:35851043-35851044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12896996	chr14:35851046-35851047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111792052	chr14:35851065-35851066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12897415	chr14:35851069-35851070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201910883	chr14:35851077-35851078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Cancer	20164920	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35837400-35852400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr14:35839600-35852400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:35841600-35853000	Weak transcription	Right Atrium	heart
4	chr14:35843600-35852400	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:35844000-35852800	Weak transcription	HUVEC	blood vessel
6	chr14:35845400-35852400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:35846000-35853000	Weak transcription	Lung	lung
8	chr14:35846200-35853000	Weak transcription	K562	blood
9	chr14:35846800-35852400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:35847200-35853000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:35847800-35850400	Enhancers	Osteobl	bone
12	chr14:35848000-35850800	Enhancers	Placenta	Placenta
13	chr14:35848400-35850600	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr14:35848400-35853000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:35848600-35852600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:35848600-35852800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr14:35848600-35853200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:35848800-35850600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:35848800-35850600	Enhancers	Fetal Intestine Large	intestine
20	chr14:35848800-35852800	Weak transcription	NHDF-Ad	bronchial
21	chr14:35848800-35853200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:35849000-35852800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:35849400-35850600	Enhancers	Fetal Intestine Small	intestine
24	chr14:35849600-35850800	Enhancers	A549	lung
25	chr14:35849800-35850600	Enhancers	Adipose Nuclei	Adipose
26	chr14:35849800-35850600	Enhancers	Colonic Mucosa	Colon
27	chr14:35850000-35850400	Flanking Active TSS	Hela-S3	cervix
28	chr14:35850200-35850400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr14:35850200-35850400	Bivalent Enhancer	HepG2	liver
30	chr14:35850200-35850600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:35850200-35850600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr14:35850400-35850800	Enhancers	Hela-S3	cervix
33	chr14:35850400-35852800	Weak transcription	Osteobl	bone
34	chr14:35850600-35852200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:35850600-35852400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr14:35850600-35852600	Weak transcription	Fetal Intestine Small	intestine
37	chr14:35850600-35852800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:35850600-35852800	Weak transcription	Adipose Nuclei	Adipose
39	chr14:35850600-35852800	Weak transcription	Colonic Mucosa	Colon
40	chr14:35850600-35852800	Weak transcription	Fetal Intestine Large	intestine
41	chr14:35850600-35853000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr14:35850800-35851200	Weak transcription	Placenta	Placenta
43	chr14:35850800-35852600	Weak transcription	A549	lung
44	chr14:35850800-35852600	Weak transcription	Hela-S3	cervix
45	chr14:35851200-35855000	Enhancers	Placenta	Placenta
46	chr14:35852200-35855400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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