Variant report

Variant	esv3321890
Chromosome Location	chr14:104926932-104929780
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104926023..104927806-chr14:104944745..104946610,2	MCF-7	breast:
2	chr14:104915992..104918653-chr14:104925232..104927798,2	MCF-7	breast:
3	chr14:104913762..104916000-chr14:104927543..104930360,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213159	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113989253	chr14:104926958-104926959	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573933639	chr14:104926967-104926968	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542779562	chr14:104927007-104927008	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs559767107	chr14:104927010-104927011	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs182080551	chr14:104927066-104927067	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs574212453	chr14:104927074-104927075	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs142115598	chr14:104927143-104927144	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs542647452	chr14:104927146-104927147	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs530817241	chr14:104927170-104927171	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs550845934	chr14:104927206-104927207	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567170816	chr14:104927245-104927246	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs536210589	chr14:104927290-104927291	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369424882	chr14:104927300-104927301	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs4983517	chr14:104927329-104927330	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs566537603	chr14:104927373-104927374	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs114397073	chr14:104927374-104927375	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs557919111	chr14:104927385-104927386	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs577776627	chr14:104927423-104927424	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs112550846	chr14:104927489-104927490	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs557207401	chr14:104927498-104927499	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs545112276	chr14:104927550-104927551	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs73354013	chr14:104927571-104927572	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs112139288	chr14:104927622-104927623	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs549971767	chr14:104927629-104927630	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs573285322	chr14:104927651-104927652	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs545265464	chr14:104927654-104927655	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs145057219	chr14:104927657-104927658	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs530694471	chr14:104927687-104927688	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs544532537	chr14:104927707-104927708	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs367978068	chr14:104927732-104927733	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs186359452	chr14:104927766-104927767	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs564961700	chr14:104927850-104927851	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200986805	chr14:104927863-104927864	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147558666	chr14:104927871-104927872	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113144348	chr14:104927903-104927904	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551810818	chr14:104927904-104927905	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551716766	chr14:104927919-104927920	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113634407	chr14:104927926-104927927	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188407491	chr14:104927991-104927992	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74246318	chr14:104928020-104928021	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs537216801	chr14:104928098-104928099	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs369064974	chr14:104928104-104928105	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs79322342	chr14:104928178-104928179	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs567926100	chr14:104928226-104928227	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs536296615	chr14:104928231-104928232	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs529907478	chr14:104928265-104928266	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs573116426	chr14:104928268-104928269	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs545539757	chr14:104928312-104928313	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs559058012	chr14:104928328-104928329	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs28422808	chr14:104928364-104928365	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	20932292	CNVD

Chromatin state (count:215 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104918000-104927400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:104926800-104927000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
3	chr14:104926800-104927400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
4	chr14:104926800-104927400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:104926800-104927400	Enhancers	Brain Germinal Matrix	brain
6	chr14:104926800-104928000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
7	chr14:104926800-104929600	Enhancers	Fetal Brain Male	brain
8	chr14:104927000-104927200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
9	chr14:104927000-104927200	Enhancers	Fetal Brain Female	brain
10	chr14:104927000-104928400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr14:104927200-104927400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr14:104927200-104927400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr14:104927200-104927400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
14	chr14:104927200-104927400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
15	chr14:104927200-104927400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:104927200-104927400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
17	chr14:104927200-104927400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
18	chr14:104927200-104927400	Bivalent Enhancer	Adipose Nuclei	Adipose
19	chr14:104927200-104927400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr14:104927200-104927400	Bivalent Enhancer	Fetal Stomach	stomach
21	chr14:104927200-104927400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
22	chr14:104927200-104927400	Enhancers	Spleen	Spleen
23	chr14:104927200-104927600	Flanking Active TSS	Fetal Brain Female	brain
24	chr14:104927200-104927600	Active TSS	Ovary	ovary
25	chr14:104927200-104928000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:104927200-104928200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
27	chr14:104927200-104928200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
28	chr14:104927200-104928600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr14:104927200-104928800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr14:104927200-104928800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
31	chr14:104927200-104929000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr14:104927400-104927600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
33	chr14:104927400-104927600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
34	chr14:104927400-104927600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
35	chr14:104927400-104927600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:104927400-104927600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
37	chr14:104927400-104927600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:104927400-104927600	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
39	chr14:104927400-104927600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:104927400-104927600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:104927400-104927600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr14:104927400-104927600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
43	chr14:104927400-104927600	Enhancers	Left Ventricle	heart
44	chr14:104927400-104927600	Enhancers	Right Ventricle	heart
45	chr14:104927400-104927600	Flanking Active TSS	Spleen	Spleen
46	chr14:104927400-104927800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:104927400-104927800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:104927400-104927800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
49	chr14:104927400-104927800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
50	chr14:104927400-104927800	Flanking Active TSS	Brain Germinal Matrix	brain

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