Variant report

Variant	esv3355179
Chromosome Location	chr14:105048007-105052305
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104652967..104655075-chr14:105050050..105051684,2	MCF-7	breast:
2	chr14:105048877..105053029-chr14:105053228..105056172,3	MCF-7	breast:
3	chr14:105051680..105054326-chr14:105056453..105058154,2	K562	blood:
4	chr14:105042988..105044600-chr14:105047915..105049629,2	K562	blood:
5	chr14:104610504..104612427-chr14:105051437..105054279,2	MCF-7	breast:
6	chr14:105051460..105054318-chr14:105065676..105068171,2	MCF-7	breast:

Extended variants
information (count: 184 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570557120	chr14:105048032-105048033	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs74246322	chr14:105048065-105048066	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs139117803	chr14:105048083-105048084	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs112738585	chr14:105048127-105048128	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs538504737	chr14:105048132-105048133	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs554970020	chr14:105048137-105048138	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs530003713	chr14:105048148-105048149	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs72076529	chr14:105048154-105048155	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs116843269	chr14:105048179-105048180	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs534117210	chr14:105048201-105048202	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs553991995	chr14:105048202-105048203	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs576906967	chr14:105048262-105048263	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs545996692	chr14:105048264-105048265	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs556492775	chr14:105048279-105048280	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs576362469	chr14:105048289-105048290	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs144673868	chr14:105048321-105048322	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs561952158	chr14:105048322-105048323	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs74088179	chr14:105048335-105048336	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs367579279	chr14:105048376-105048377	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs35527175	chr14:105048421-105048422	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs564309138	chr14:105048489-105048490	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs533014119	chr14:105048491-105048492	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs549635077	chr14:105048494-105048495	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs569590625	chr14:105048511-105048512	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs4270105	chr14:105048542-105048543	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs548609963	chr14:105048550-105048551	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs369939588	chr14:105048561-105048562	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs373078431	chr14:105048562-105048563	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs375224866	chr14:105048650-105048651	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs570732358	chr14:105048656-105048657	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs139901515	chr14:105048704-105048705	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs564885450	chr14:105048732-105048733	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs75615758	chr14:105048744-105048745	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs535475392	chr14:105048841-105048842	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs555824248	chr14:105048909-105048910	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs569251794	chr14:105048939-105048940	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs572352777	chr14:105048980-105048981	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs541354751	chr14:105048988-105048989	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs564247673	chr14:105048993-105048994	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs577766938	chr14:105049053-105049054	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs532200852	chr14:105049068-105049069	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs563228160	chr14:105049076-105049077	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs529032554	chr14:105049079-105049080	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs548548451	chr14:105049083-105049084	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs571612215	chr14:105049106-105049107	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs538533512	chr14:105049126-105049127	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs527950601	chr14:105049132-105049133	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs372957864	chr14:105049135-105049136	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs56010345	chr14:105049167-105049168	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs568063749	chr14:105049189-105049190	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Ependymoma	20639864	CNVD
Breast cancer	20932292	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105038000-105051000	Enhancers	Fetal Intestine Large	intestine
2	chr14:105040200-105048200	Enhancers	Fetal Brain Male	brain
3	chr14:105040200-105049800	Enhancers	Fetal Lung	lung
4	chr14:105040200-105050000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr14:105041000-105051200	Enhancers	Fetal Intestine Small	intestine
6	chr14:105042800-105048400	Enhancers	Brain Germinal Matrix	brain
7	chr14:105042800-105049800	Enhancers	Liver	Liver
8	chr14:105043200-105049400	Enhancers	Gastric	stomach
9	chr14:105043400-105049600	Enhancers	Psoas Muscle	Psoas
10	chr14:105044800-105053600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:105045000-105048400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
12	chr14:105045000-105048400	Weak transcription	K562	blood
13	chr14:105045200-105050000	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr14:105045400-105049000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:105045600-105049000	Enhancers	Colonic Mucosa	Colon
16	chr14:105045600-105049600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr14:105045600-105053200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr14:105046000-105049000	Active TSS	Right Atrium	heart
19	chr14:105046000-105049200	Flanking Active TSS	Fetal Muscle Leg	muscle
20	chr14:105046000-105049600	Active TSS	Left Ventricle	heart
21	chr14:105046400-105048400	Enhancers	Fetal Stomach	stomach
22	chr14:105046400-105064000	Weak transcription	Brain Anterior Caudate	brain
23	chr14:105046600-105049200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
24	chr14:105047000-105049600	Enhancers	Pancreas	Pancrea
25	chr14:105047200-105050000	Weak transcription	Fetal Brain Female	brain
26	chr14:105047400-105049400	Active TSS	Right Ventricle	heart
27	chr14:105047400-105049800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:105047600-105050600	Enhancers	Spleen	Spleen
29	chr14:105048000-105048200	Flanking Active TSS	Fetal Heart	heart
30	chr14:105048000-105048200	Flanking Active TSS	Placenta	Placenta
31	chr14:105048000-105048400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr14:105048000-105048600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:105048000-105048800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:105048000-105052000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:105048000-105053400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr14:105048200-105048400	Flanking Bivalent TSS/Enh	Placenta	Placenta
37	chr14:105048200-105049600	Enhancers	Fetal Heart	heart
38	chr14:105048200-105049800	Weak transcription	Fetal Brain Male	brain
39	chr14:105048200-105053600	Weak transcription	Brain Angular Gyrus	brain
40	chr14:105048400-105048600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
41	chr14:105048400-105048800	Bivalent Enhancer	Placenta	Placenta
42	chr14:105048400-105049400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr14:105048400-105051000	Bivalent Enhancer	Fetal Stomach	stomach
44	chr14:105048400-105051800	Enhancers	K562	blood
45	chr14:105048600-105049400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:105048600-105049600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
47	chr14:105048600-105049600	Enhancers	Lung	lung
48	chr14:105048800-105049000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:105048800-105049000	Bivalent Enhancer	HSMMtube	muscle
50	chr14:105048800-105049200	Flanking Bivalent TSS/Enh	Placenta	Placenta

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