Variant report

Variant	esv3405710
Chromosome Location	chr14:55797224-55800072
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55799382..55802320-chr14:55805290..55807790,2	K562	blood:
2	chr14:55795389..55798237-chr14:55800150..55802367,2	MCF-7	breast:
3	chr14:55792839..55794564-chr14:55795396..55797441,2	K562	blood:

Variant related genes	Relation type
ENSG00000258455	chromatin interactions

Extended variants
information (count: 123 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370322743	chr14:55797242-55797243	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs185751945	chr14:55797267-55797268	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs112433879	chr14:55797274-55797275	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs113033175	chr14:55797312-55797313	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs569627492	chr14:55797317-55797318	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs536612621	chr14:55797323-55797324	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs148779984	chr14:55797339-55797340	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs113943555	chr14:55797361-55797362	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs375124631	chr14:55797363-55797364	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs113956054	chr14:55797371-55797372	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs540562616	chr14:55797388-55797389	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs192904352	chr14:55797421-55797422	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs541160102	chr14:55797464-55797465	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs184413068	chr14:55797465-55797466	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs553600024	chr14:55797470-55797471	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs575121271	chr14:55797471-55797472	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs542458747	chr14:55797483-55797484	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs563943694	chr14:55797542-55797543	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs188731299	chr14:55797587-55797588	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs368340588	chr14:55797596-55797597	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs368327978	chr14:55797600-55797601	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs545839675	chr14:55797624-55797625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564548228	chr14:55797641-55797642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113735300	chr14:55797642-55797643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369541487	chr14:55797680-55797681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570740406	chr14:55797690-55797691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181379947	chr14:55797708-55797709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565521076	chr14:55797713-55797714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529804017	chr14:55797733-55797734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548001326	chr14:55797790-55797791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569567626	chr14:55797819-55797820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537361310	chr14:55797821-55797822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs67795323	chr14:55797833-55797834	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs570472924	chr14:55797840-55797841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs367725096	chr14:55797850-55797851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115973147	chr14:55797901-55797902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117182128	chr14:55797911-55797912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574607505	chr14:55797939-55797940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576739918	chr14:55797976-55797977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185612905	chr14:55797999-55798000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536009427	chr14:55798024-55798025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545614700	chr14:55798161-55798162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559377390	chr14:55798173-55798174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188461626	chr14:55798263-55798264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142305458	chr14:55798266-55798267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150276600	chr14:55798278-55798279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35899325	chr14:55798279-55798280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575840960	chr14:55798365-55798366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs180853728	chr14:55798378-55798379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552730657	chr14:55798386-55798387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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	16397240	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
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	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

Chromatin state (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55777200-55799000	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:55777400-55799200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr14:55779200-55798800	Weak transcription	K562	blood
4	chr14:55779200-55817600	Weak transcription	Hela-S3	cervix
5	chr14:55779600-55799600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr14:55779600-55801200	Weak transcription	Esophagus	oesophagus
7	chr14:55779800-55800800	Weak transcription	Adipose Nuclei	Adipose
8	chr14:55780000-55797800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr14:55780200-55807800	Weak transcription	Thymus	Thymus
10	chr14:55780600-55799000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:55780600-55800600	Weak transcription	NHEK	skin
12	chr14:55780600-55806200	Weak transcription	HMEC	breast
13	chr14:55780800-55799400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:55780800-55800800	Weak transcription	Lung	lung
15	chr14:55780800-55817200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr14:55781400-55799600	Weak transcription	NH-A	brain
17	chr14:55782000-55817200	Weak transcription	HSMM	muscle
18	chr14:55783000-55798800	Weak transcription	Liver	Liver
19	chr14:55783200-55799400	Weak transcription	Fetal Thymus	thymus
20	chr14:55783400-55797400	Weak transcription	Stomach Mucosa	stomach
21	chr14:55783600-55799000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:55783600-55799400	Weak transcription	Pancreas	Pancrea
23	chr14:55783600-55800800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr14:55783800-55799400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:55784000-55799800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:55784200-55801200	Weak transcription	Fetal Stomach	stomach
27	chr14:55784600-55799400	Weak transcription	HSMMtube	muscle
28	chr14:55784600-55800800	Weak transcription	Gastric	stomach
29	chr14:55784800-55798800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr14:55784800-55799600	Weak transcription	Fetal Kidney	kidney
31	chr14:55785800-55799000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:55785800-55799200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr14:55786000-55798800	Weak transcription	Fetal Intestine Large	intestine
34	chr14:55786000-55799000	Weak transcription	A549	lung
35	chr14:55786000-55799000	Weak transcription	Dnd41	blood
36	chr14:55786800-55803000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:55787200-55798800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:55787200-55806600	Weak transcription	Fetal Muscle Leg	muscle
39	chr14:55787800-55798800	Weak transcription	Fetal Intestine Small	intestine
40	chr14:55788200-55797400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr14:55788600-55799400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr14:55788800-55800800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:55790400-55806800	Weak transcription	Aorta	Aorta
44	chr14:55790800-55799400	Weak transcription	Left Ventricle	heart
45	chr14:55791800-55800200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:55791800-55817200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:55792600-55798800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr14:55792600-55799000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr14:55793000-55808600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:55793200-55800800	Weak transcription	Brain Hippocampus Middle	brain

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