Variant report

Variant	esv3372000
Chromosome Location	chr14:104740399-104743405
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	chr14:104736178..104738016-chr14:104740822..104743657,2	MCF-7	breast:
2	chr14:104600334..104603089-chr14:104739484..104741726,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf144-1	chr14:104741681-104741966	ENSG00000258913

Extended variants
information (count: 126 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547981649	chr14:104740400-104740401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11848296	chr14:104740457-104740458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs540168602	chr14:104740489-104740490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550472204	chr14:104740538-104740539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570076882	chr14:104740558-104740559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185135003	chr14:104740582-104740583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189595636	chr14:104740587-104740588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143277933	chr14:104740603-104740604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576784438	chr14:104740646-104740647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4906430	chr14:104740666-104740667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs114535686	chr14:104740672-104740673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542014037	chr14:104740726-104740727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372725046	chr14:104740739-104740740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577397117	chr14:104740785-104740786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116512092	chr14:104740820-104740821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182532363	chr14:104740860-104740861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573592686	chr14:104740869-104740870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147531617	chr14:104740895-104740896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559420513	chr14:104740952-104740953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376154911	chr14:104740953-104740954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541124954	chr14:104740954-104740955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139166192	chr14:104740967-104740968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368983640	chr14:104740972-104740973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139372151	chr14:104741003-104741004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4288931	chr14:104741037-104741038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs538288834	chr14:104741063-104741064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7147700	chr14:104741094-104741095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150034588	chr14:104741104-104741105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533562419	chr14:104741136-104741137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145285669	chr14:104741167-104741168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570211864	chr14:104741183-104741184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535843540	chr14:104741271-104741272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148733561	chr14:104741334-104741335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565723665	chr14:104741345-104741346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534821943	chr14:104741401-104741402	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs536595862	chr14:104741429-104741430	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs370269170	chr14:104741448-104741449	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs577457490	chr14:104741449-104741450	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs554901666	chr14:104741451-104741452	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs34605856	chr14:104741453-104741454	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs564260648	chr14:104741476-104741477	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs531563908	chr14:104741487-104741488	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs186847132	chr14:104741495-104741496	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs374090137	chr14:104741523-104741524	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs192251711	chr14:104741615-104741616	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs143596749	chr14:104741653-104741654	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs559119668	chr14:104741675-104741676	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs183348979	chr14:104741700-104741701	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
49	rs545169570	chr14:104741718-104741719	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
50	rs564962052	chr14:104741757-104741758	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
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
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104721600-104741400	Weak transcription	Fetal Lung	lung
2	chr14:104734800-104745600	Weak transcription	Ovary	ovary
3	chr14:104736200-104746000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:104736400-104741600	Weak transcription	Spleen	Spleen
5	chr14:104736800-104741600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:104736800-104745600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:104736800-104754800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:104738800-104741400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr14:104741200-104741600	Enhancers	Adipose Nuclei	Adipose
10	chr14:104741400-104741600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:104741400-104741600	Enhancers	Colon Smooth Muscle	Colon
12	chr14:104741400-104741600	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr14:104741400-104741600	Active TSS	Fetal Brain Male	brain
14	chr14:104741400-104741600	Enhancers	Hela-S3	cervix
15	chr14:104741400-104741800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:104741400-104741800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:104741400-104741800	Enhancers	Pancreas	Pancrea
18	chr14:104741400-104741800	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr14:104741400-104741800	Enhancers	NHEK	skin
20	chr14:104741400-104742000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:104741400-104742000	Flanking Active TSS	Fetal Lung	lung
22	chr14:104741400-104742200	Enhancers	Esophagus	oesophagus
23	chr14:104741400-104742200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr14:104741400-104742200	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr14:104741400-104742200	Active TSS	Rectal Smooth Muscle	rectum
26	chr14:104741400-104742600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
27	chr14:104741400-104742800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr14:104741400-104743400	Enhancers	Fetal Stomach	stomach
29	chr14:104741600-104741800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:104741600-104741800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:104741600-104741800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:104741600-104741800	Flanking Active TSS	Fetal Brain Male	brain
33	chr14:104741600-104741800	Enhancers	Fetal Brain Female	brain
34	chr14:104741600-104741800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
35	chr14:104741600-104742000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
36	chr14:104741600-104742000	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr14:104741600-104742000	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr14:104741600-104742000	Enhancers	Fetal Heart	heart
39	chr14:104741600-104742000	Enhancers	Left Ventricle	heart
40	chr14:104741600-104742000	Bivalent Enhancer	Psoas Muscle	Psoas
41	chr14:104741600-104742000	Enhancers	Spleen	Spleen
42	chr14:104741600-104742200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:104741600-104742200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:104741600-104742200	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr14:104741600-104742200	Enhancers	Lung	lung
46	chr14:104741600-104742200	Enhancers	HSMM	muscle
47	chr14:104741600-104742600	Bivalent Enhancer	Placenta	Placenta
48	chr14:104741600-104742600	Enhancers	HSMMtube	muscle
49	chr14:104741600-104743000	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr14:104741600-104743000	Flanking Active TSS	Hela-S3	cervix

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