Variant report

Variant	esv3340250
Chromosome Location	chr14:55939252-55947823
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55936925..55938790-chr14:55938821..55940391,2	K562	blood:
2	chr14:55947632..55950014-chr14:55951455..55953042,2	K562	blood:
3	chr14:55935959..55937646-chr14:55943697..55946148,2	K562	blood:
4	chr14:55932703..55935495-chr14:55937792..55940291,2	MCF-7	breast:
5	chr14:55946573..55948131-chr14:56047906..56049458,2	K562	blood:
6	chr14:55934279..55936415-chr14:55944398..55946379,2	K562	blood:

Extended variants
information (count: 259 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530386622	chr14:55941072-55941073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75719745	chr14:55941129-55941130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570500054	chr14:55941160-55941161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112486409	chr14:55941174-55941175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546824956	chr14:55941185-55941186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs58452241	chr14:55941195-55941196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568292626	chr14:55941253-55941254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535764638	chr14:55941267-55941268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144671032	chr14:55941286-55941287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147902540	chr14:55941312-55941313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539402686	chr14:55941326-55941327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558125102	chr14:55941336-55941337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374970867	chr14:55941417-55941418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12432729	chr14:55941431-55941432	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
15	rs553228544	chr14:55941447-55941448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141586593	chr14:55941456-55941457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373141347	chr14:55941478-55941479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533449620	chr14:55941486-55941487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546906171	chr14:55941578-55941579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs57908495	chr14:55941709-55941710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563530059	chr14:55941741-55941742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200456753	chr14:55941761-55941762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545520645	chr14:55941788-55941789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs59932390	chr14:55941825-55941826	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs528202215	chr14:55941902-55941903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546261293	chr14:55941910-55941911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7155138	chr14:55942032-55942033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77842574	chr14:55942069-55942070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190223131	chr14:55942074-55942075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182467193	chr14:55942112-55942113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550863537	chr14:55942116-55942117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540913312	chr14:55942139-55942140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10137420	chr14:55942264-55942265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs7155545	chr14:55942278-55942279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs8017959	chr14:55942310-55942311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185222896	chr14:55942353-55942354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368260901	chr14:55942381-55942382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534304596	chr14:55942405-55942406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61976595	chr14:55942423-55942424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189691903	chr14:55942424-55942425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183878695	chr14:55942435-55942436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34772885	chr14:55942443-55942444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534321491	chr14:55942481-55942482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368638851	chr14:55942489-55942490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535695615	chr14:55942500-55942501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557108954	chr14:55942594-55942595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571046000	chr14:55942602-55942603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12893080	chr14:55942605-55942606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12894333	chr14:55942606-55942607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372901308	chr14:55942624-55942625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55941000-55941800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:55941400-55941800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:55941600-55942000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:55941600-55942000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr14:55941800-55943400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:55942000-55948400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:55942800-55943000	Enhancers	Pancreas	Pancrea
8	chr14:55943000-55944000	Weak transcription	Pancreas	Pancrea
9	chr14:55943400-55945400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:55943600-55945200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:55944000-55946200	Enhancers	Pancreas	Pancrea
12	chr14:55944200-55944600	Enhancers	Brain Hippocampus Middle	brain
13	chr14:55944200-55944800	Enhancers	HSMMtube	muscle
14	chr14:55944400-55944800	Enhancers	Adipose Nuclei	Adipose
15	chr14:55944400-55946000	Enhancers	Left Ventricle	heart
16	chr14:55945400-55949600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links