Variant report

Variant	esv3349968
Chromosome Location	chr14:71449798-71451608
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71441488..71443872-chr14:71448426..71449969,2	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144117528	chr14:71449856-71449857	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575043705	chr14:71449858-71449859	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73293851	chr14:71449863-71449864	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375755359	chr14:71449865-71449866	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549951363	chr14:71449919-71449920	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140897056	chr14:71450008-71450009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111874593	chr14:71450016-71450017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568129037	chr14:71450025-71450026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531657184	chr14:71450036-71450037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563988308	chr14:71450044-71450045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531385410	chr14:71450108-71450109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550084924	chr14:71450170-71450171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187152497	chr14:71450175-71450176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529137447	chr14:71450222-71450223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548609513	chr14:71450224-71450225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553741684	chr14:71450272-71450273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566859102	chr14:71450299-71450300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534337096	chr14:71450300-71450301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117381053	chr14:71450309-71450310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571059067	chr14:71450347-71450348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76306186	chr14:71450351-71450352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539350145	chr14:71450361-71450362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556690882	chr14:71450386-71450387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575035068	chr14:71450433-71450434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557589697	chr14:71450436-71450437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10138166	chr14:71450472-71450473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78681356	chr14:71450515-71450516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553395088	chr14:71450581-71450582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12892739	chr14:71450608-71450609	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs545523322	chr14:71450609-71450610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563823779	chr14:71450702-71450703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148921651	chr14:71450713-71450714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543253632	chr14:71450732-71450733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561878606	chr14:71450779-71450780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114829605	chr14:71450798-71450799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12894445	chr14:71450815-71450816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373778889	chr14:71450829-71450830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560499802	chr14:71450847-71450848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527670215	chr14:71450854-71450855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552569287	chr14:71450902-71450903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544250001	chr14:71450916-71450917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72724338	chr14:71450935-71450936	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs538291166	chr14:71450975-71450976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191535101	chr14:71450991-71450992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369552688	chr14:71451032-71451033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374279535	chr14:71451080-71451081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111569292	chr14:71451082-71451083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78993286	chr14:71451086-71451087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559702091	chr14:71451095-71451096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs8022768	chr14:71451126-71451127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:65)

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
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
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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71426000-71508800	Weak transcription	Psoas Muscle	Psoas
2	chr14:71433200-71455200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:71437200-71485600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:71438600-71502800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:71439200-71454800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:71439200-71478000	Weak transcription	Colon Smooth Muscle	Colon
7	chr14:71439600-71502800	Weak transcription	Small Intestine	intestine
8	chr14:71445000-71449800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:71445000-71461800	Weak transcription	A549	lung
10	chr14:71445200-71453800	Weak transcription	Stomach Mucosa	stomach
11	chr14:71445200-71462400	Weak transcription	Esophagus	oesophagus
12	chr14:71445200-71462400	Weak transcription	Gastric	stomach
13	chr14:71445200-71462400	Weak transcription	Lung	lung
14	chr14:71445200-71470800	Weak transcription	GM12878-XiMat	blood
15	chr14:71445200-71471000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:71445200-71496200	Weak transcription	Fetal Brain Male	brain
17	chr14:71445200-71497800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr14:71445200-71502800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:71445200-71510800	Weak transcription	Colonic Mucosa	Colon
20	chr14:71445400-71453800	Weak transcription	Brain Angular Gyrus	brain
21	chr14:71445400-71454600	Weak transcription	Brain Germinal Matrix	brain
22	chr14:71445400-71455200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:71445400-71455200	Weak transcription	Aorta	Aorta
24	chr14:71445400-71455200	Weak transcription	Pancreas	Pancrea
25	chr14:71445400-71455200	Weak transcription	Right Ventricle	heart
26	chr14:71445400-71455200	Weak transcription	Spleen	Spleen
27	chr14:71445400-71456200	Weak transcription	Fetal Intestine Small	intestine
28	chr14:71445400-71462200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr14:71445400-71462400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:71445400-71462400	Weak transcription	Ovary	ovary
31	chr14:71445400-71462400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr14:71445400-71465200	Weak transcription	Fetal Thymus	thymus
33	chr14:71445400-71468600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr14:71445400-71470600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:71445400-71470600	Weak transcription	Fetal Stomach	stomach
36	chr14:71445400-71470800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:71445400-71471000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr14:71445400-71471000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr14:71445400-71471000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr14:71445400-71479600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr14:71445400-71479800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr14:71445400-71479800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr14:71445400-71479800	Weak transcription	Thymus	Thymus
44	chr14:71445400-71479800	Weak transcription	HSMMtube	muscle
45	chr14:71445400-71480400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:71445400-71480400	Weak transcription	Left Ventricle	heart
47	chr14:71445400-71485600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr14:71445400-71498000	Weak transcription	Brain Hippocampus Middle	brain
49	chr14:71445400-71502800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr14:71445600-71452800	Weak transcription	NHEK	skin

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