Variant report

Variant	esv3443613
Chromosome Location	chr14:56113447-56113876
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr14:56113304-56113504	GM12878	blood:	n/a	n/a
2	E2F4	chr14:56113810-56113934	MCF10A-Er-Src	breast:	n/a	n/a
3	MAZ	chr14:56113305-56113502	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56113692..56116512-chr14:56123800..56126287,2	MCF-7	breast:
2	chr14:56046884..56048461-chr14:56110849..56113567,2	K562	blood:

Variant related genes	Relation type
ENSG00000200742	TF binding region
KTN1	TF binding region
ENSG00000126777	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2274078	chr14:56113450-56113451	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2274079	chr14:56113507-56113508	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs544531658	chr14:56113514-56113515	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs537691355	chr14:56113520-56113521	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs558878837	chr14:56113542-56113543	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs577613530	chr14:56113588-56113589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369123366	chr14:56113604-56113605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376838961	chr14:56113626-56113627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371355525	chr14:56113649-56113650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192932559	chr14:56113653-56113654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574860939	chr14:56113655-56113656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541838542	chr14:56113665-56113666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs202182213	chr14:56113669-56113670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369893726	chr14:56113678-56113679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372534760	chr14:56113684-56113685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559509502	chr14:56113714-56113715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184612013	chr14:56113716-56113717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187959382	chr14:56113731-56113732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564885848	chr14:56113741-56113742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373822094	chr14:56113754-56113755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532284070	chr14:56113756-56113757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142593576	chr14:56113762-56113763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376484124	chr14:56113774-56113775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559199618	chr14:56113783-56113784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529675505	chr14:56113787-56113788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75802243	chr14:56113836-56113837	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs569777857	chr14:56113854-56113855	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs192435226	chr14:56113863-56113864	Weak transcription Strong transcription	TF binding region	2 gene(s)	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
Medulloblastoma	21163964	CNVD
Cancer	20164919	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56078600-56148600	Weak transcription	Stomach Mucosa	stomach
2	chr14:56087400-56132200	Strong transcription	Dnd41	blood
3	chr14:56087600-56145200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:56088200-56129400	Weak transcription	Spleen	Spleen
5	chr14:56088200-56132200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:56088400-56121600	Weak transcription	Aorta	Aorta
7	chr14:56088400-56121800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:56088400-56153200	Weak transcription	Gastric	stomach
9	chr14:56092800-56135400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:56094400-56132600	Strong transcription	HSMM	muscle
11	chr14:56095000-56142200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:56097600-56115600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:56097600-56145200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:56097600-56155400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:56098600-56121600	Weak transcription	Small Intestine	intestine
16	chr14:56099000-56128000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:56099400-56118600	Strong transcription	Hela-S3	cervix
18	chr14:56100200-56131000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr14:56101000-56132800	Strong transcription	Primary B cells from peripheral blood	blood
20	chr14:56101800-56118200	Weak transcription	Fetal Brain Female	brain
21	chr14:56101800-56121600	Weak transcription	Pancreas	Pancrea
22	chr14:56101800-56123200	Weak transcription	Fetal Intestine Small	intestine
23	chr14:56101800-56128800	Weak transcription	Fetal Stomach	stomach
24	chr14:56101800-56162800	Weak transcription	Brain Germinal Matrix	brain
25	chr14:56102400-56121600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:56102400-56121600	Weak transcription	Esophagus	oesophagus
27	chr14:56102400-56145200	Weak transcription	Lung	lung
28	chr14:56102400-56185400	Weak transcription	Right Ventricle	heart
29	chr14:56103200-56117000	Weak transcription	K562	blood
30	chr14:56103400-56130600	Weak transcription	Thymus	Thymus
31	chr14:56104000-56115800	Weak transcription	Brain Angular Gyrus	brain
32	chr14:56104600-56119600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr14:56104600-56121600	Weak transcription	Ovary	ovary
34	chr14:56104600-56127600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr14:56104800-56121600	Weak transcription	Left Ventricle	heart
36	chr14:56104800-56128800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr14:56104800-56157400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr14:56105000-56122600	Weak transcription	NHLF	lung
39	chr14:56105000-56129200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:56105000-56138200	Weak transcription	Psoas Muscle	Psoas
41	chr14:56106000-56150200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:56106400-56115000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr14:56107000-56121600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr14:56107600-56115000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr14:56108000-56115000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr14:56108200-56115600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr14:56108400-56120800	Weak transcription	NHEK	skin
48	chr14:56109000-56115000	Weak transcription	Brain Anterior Caudate	brain
49	chr14:56109000-56115600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:56109000-56117000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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