Variant report

Variant	esv2638994
Chromosome Location	chr14:56771590-56773021
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	chr14:56769713..56772001-chr14:56773071..56775429,2	K562	blood:
2	chr14:56221789..56224702-chr14:56769776..56771612,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555059406	chr14:56771617-56771618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542672213	chr14:56771620-56771621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181397024	chr14:56771649-56771650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543868665	chr14:56771676-56771677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556083257	chr14:56771733-56771734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186154452	chr14:56771768-56771769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577556027	chr14:56771776-56771777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562664065	chr14:56771777-56771778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545730493	chr14:56771781-56771782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77049173	chr14:56771801-56771802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78920564	chr14:56771839-56771840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368746916	chr14:56771878-56771879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138255924	chr14:56771943-56771944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531783610	chr14:56771959-56771960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs959459	chr14:56771970-56771971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs571654617	chr14:56771981-56771982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571664678	chr14:56771991-56771992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142652979	chr14:56772008-56772009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146896067	chr14:56772009-56772010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551299542	chr14:56772047-56772048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191103626	chr14:56772051-56772052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80346993	chr14:56772062-56772063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370831839	chr14:56772083-56772084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182525431	chr14:56772102-56772103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555097992	chr14:56772124-56772125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139322851	chr14:56772153-56772154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186532028	chr14:56772172-56772173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555980214	chr14:56772221-56772222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577592347	chr14:56772267-56772268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191031057	chr14:56772360-56772361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544662268	chr14:56772380-56772381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554520349	chr14:56772413-56772414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75614671	chr14:56772428-56772429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149412656	chr14:56772459-56772460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561507721	chr14:56772465-56772466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531810715	chr14:56772473-56772474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374657361	chr14:56772478-56772479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535833348	chr14:56772479-56772480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543924694	chr14:56772488-56772489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565219225	chr14:56772493-56772494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527973634	chr14:56772552-56772553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548069473	chr14:56772561-56772562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1152473	chr14:56772635-56772636	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs369238769	chr14:56772642-56772643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12101267	chr14:56772709-56772710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs17690739	chr14:56772715-56772716	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs376589305	chr14:56772761-56772762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183183258	chr14:56772803-56772804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548854027	chr14:56772863-56772864	Weak transcription Enhancers	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
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
Hodgkin''s lymphoma	17606441	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56738800-56775600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:56750400-56777600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:56753200-56773200	Weak transcription	Fetal Brain Male	brain
4	chr14:56757400-56773200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr14:56758800-56772400	Weak transcription	Brain Germinal Matrix	brain
6	chr14:56759000-56777000	Weak transcription	Left Ventricle	heart
7	chr14:56764400-56774400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:56764400-56785600	Weak transcription	Lung	lung
9	chr14:56764400-56798200	Weak transcription	Pancreas	Pancrea
10	chr14:56764400-56808800	Weak transcription	Thymus	Thymus
11	chr14:56765000-56772800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:56765200-56774800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr14:56765200-56776600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:56766400-56776800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:56767600-56777200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:56767800-56777200	Weak transcription	NH-A	brain
17	chr14:56768600-56784600	Weak transcription	Dnd41	blood
18	chr14:56769200-56771600	Weak transcription	Fetal Intestine Small	intestine
19	chr14:56769800-56776000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr14:56769800-56780200	Weak transcription	Primary B cells from cord blood	blood
21	chr14:56770800-56771600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:56771200-56771600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:56771600-56773600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:56772400-56774200	Enhancers	Brain Germinal Matrix	brain
25	chr14:56772800-56773200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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