Variant report

Variant	esv3429893
Chromosome Location	chr14:55797549-55799747
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	chr14:55795389..55798237-chr14:55800150..55802367,2	MCF-7	breast:
2	chr14:55799382..55802320-chr14:55805290..55807790,2	K562	blood:

Variant related genes	Relation type
ENSG00000258455	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188731299	chr14:55797587-55797588	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs368340588	chr14:55797596-55797597	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs368327978	chr14:55797600-55797601	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs545839675	chr14:55797624-55797625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564548228	chr14:55797641-55797642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113735300	chr14:55797642-55797643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369541487	chr14:55797680-55797681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570740406	chr14:55797690-55797691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181379947	chr14:55797708-55797709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565521076	chr14:55797713-55797714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529804017	chr14:55797733-55797734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548001326	chr14:55797790-55797791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569567626	chr14:55797819-55797820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537361310	chr14:55797821-55797822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs67795323	chr14:55797833-55797834	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs570472924	chr14:55797840-55797841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367725096	chr14:55797850-55797851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115973147	chr14:55797901-55797902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117182128	chr14:55797911-55797912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574607505	chr14:55797939-55797940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576739918	chr14:55797976-55797977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185612905	chr14:55797999-55798000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536009427	chr14:55798024-55798025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545614700	chr14:55798161-55798162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559377390	chr14:55798173-55798174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188461626	chr14:55798263-55798264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142305458	chr14:55798266-55798267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150276600	chr14:55798278-55798279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35899325	chr14:55798279-55798280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575840960	chr14:55798365-55798366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs180853728	chr14:55798378-55798379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552730657	chr14:55798386-55798387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187214679	chr14:55798391-55798392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573221738	chr14:55798393-55798394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540245248	chr14:55798395-55798396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192100652	chr14:55798403-55798404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183529037	chr14:55798405-55798406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199998638	chr14:55798406-55798407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185734281	chr14:55798407-55798408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370996564	chr14:55798421-55798422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563184455	chr14:55798423-55798424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561823201	chr14:55798437-55798438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201760112	chr14:55798458-55798459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs151182170	chr14:55798459-55798460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190443018	chr14:55798465-55798466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35698574	chr14:55798479-55798480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182637933	chr14:55798481-55798482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561815385	chr14:55798494-55798495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187013572	chr14:55798496-55798497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192496490	chr14:55798503-55798504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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

Chromatin state (count:243 , 50 per page) page: 1 2 3 4 5

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	chr14:55783600-55799000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:55783600-55799400	Weak transcription	Pancreas	Pancrea
22	chr14:55783600-55800800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr14:55783800-55799400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:55784000-55799800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:55784200-55801200	Weak transcription	Fetal Stomach	stomach
26	chr14:55784600-55799400	Weak transcription	HSMMtube	muscle
27	chr14:55784600-55800800	Weak transcription	Gastric	stomach
28	chr14:55784800-55798800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr14:55784800-55799600	Weak transcription	Fetal Kidney	kidney
30	chr14:55785800-55799000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:55785800-55799200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr14:55786000-55798800	Weak transcription	Fetal Intestine Large	intestine
33	chr14:55786000-55799000	Weak transcription	A549	lung
34	chr14:55786000-55799000	Weak transcription	Dnd41	blood
35	chr14:55786800-55803000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:55787200-55798800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:55787200-55806600	Weak transcription	Fetal Muscle Leg	muscle
38	chr14:55787800-55798800	Weak transcription	Fetal Intestine Small	intestine
39	chr14:55788600-55799400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr14:55788800-55800800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:55790400-55806800	Weak transcription	Aorta	Aorta
42	chr14:55790800-55799400	Weak transcription	Left Ventricle	heart
43	chr14:55791800-55800200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr14:55791800-55817200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:55792600-55798800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:55792600-55799000	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr14:55793000-55808600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:55793200-55800800	Weak transcription	Brain Hippocampus Middle	brain
49	chr14:55793800-55799000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr14:55794000-55797600	Weak transcription	Brain Angular Gyrus	brain

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