Variant report

Variant	esv3441328
Chromosome Location	chr14:103878075-103878266
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	chr14:103876768..103879568-chr14:103882112..103883749,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075413	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529790755	chr14:103878091-103878092	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs577292250	chr14:103878117-103878118	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs183894718	chr14:103878134-103878135	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs545860956	chr14:103878138-103878139	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs7143609	chr14:103878148-103878149	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs531829071	chr14:103878166-103878167	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs542008352	chr14:103878179-103878180	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs186799954	chr14:103878190-103878191	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569015940	chr14:103878241-103878242	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs562276458	chr14:103878244-103878245	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537763620	chr14:103878250-103878251	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191311055	chr14:103878254-103878255	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Cancer	17160897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103861000-103882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
3	chr14:103866600-103883400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:103868400-103878400	Weak transcription	Fetal Kidney	kidney
5	chr14:103868400-103880000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:103868400-103883200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:103868400-103883800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr14:103868600-103883200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:103869200-103878400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:103869600-103882800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:103870600-103878400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:103870800-103883200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr14:103870800-103883200	Weak transcription	HSMMtube	muscle
14	chr14:103871000-103878600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr14:103871000-103883000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:103871000-103883200	Weak transcription	Aorta	Aorta
17	chr14:103871000-103883600	Strong transcription	Dnd41	blood
18	chr14:103871000-103884400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr14:103871200-103878400	Weak transcription	Esophagus	oesophagus
20	chr14:103871200-103878600	Weak transcription	NHLF	lung
21	chr14:103871200-103880000	Weak transcription	NHDF-Ad	bronchial
22	chr14:103871400-103879600	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr14:103871400-103881200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr14:103871400-103881400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr14:103871400-103882800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:103871600-103883200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:103871600-103883400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr14:103872000-103883200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr14:103872200-103883800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr14:103872600-103878200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr14:103873200-103881000	Strong transcription	Primary T cells from cord blood	blood
32	chr14:103873400-103880600	Strong transcription	Osteobl	bone
33	chr14:103874200-103881000	Strong transcription	Thymus	Thymus
34	chr14:103874600-103884200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr14:103874600-103900800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr14:103874800-103883000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:103875000-103878600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr14:103875000-103880000	Weak transcription	Fetal Brain Female	brain
39	chr14:103875000-103880600	Weak transcription	A549	lung
40	chr14:103875200-103878400	Weak transcription	Liver	Liver
41	chr14:103875200-103878400	Weak transcription	GM12878-XiMat	blood
42	chr14:103875200-103878600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr14:103875200-103880800	Weak transcription	HUVEC	blood vessel
44	chr14:103875200-103888200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:103875200-103889200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr14:103875200-103893600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:103875400-103878400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr14:103875400-103878400	Weak transcription	Brain Hippocampus Middle	brain
49	chr14:103875400-103878400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr14:103875400-103878600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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