Variant report

Variant	esv3450225
Chromosome Location	chr14:105416607-105419355
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	chr14:105419320..105427156-chr14:105428137..105437324,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185567	chromatin interactions

Extended variants
information (count: 640 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:640 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370026810	chr14:105416607-105416608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542189743	chr14:105416613-105416614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141031216	chr14:105416617-105416618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116493110	chr14:105416618-105416619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370109109	chr14:105416619-105416620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11848082	chr14:105416621-105416622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375846779	chr14:105416625-105416626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370880107	chr14:105416629-105416630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374228427	chr14:105416634-105416635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368800198	chr14:105416641-105416642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371557636	chr14:105416642-105416643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533558763	chr14:105416646-105416647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550305346	chr14:105416648-105416649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28593209	chr14:105416649-105416650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
15	rs367713112	chr14:105416651-105416652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371486222	chr14:105416652-105416653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529325512	chr14:105416655-105416656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11852016	chr14:105416656-105416657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193119880	chr14:105416660-105416661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372484513	chr14:105416664-105416665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534944118	chr14:105416666-105416667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551382448	chr14:105416667-105416668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376413495	chr14:105416668-105416669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369488893	chr14:105416669-105416670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536803666	chr14:105416670-105416671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184622740	chr14:105416672-105416673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61428154	chr14:105416675-105416676	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs368963988	chr14:105416676-105416677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186766140	chr14:105416681-105416682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555546776	chr14:105416682-105416683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2582506	chr14:105416685-105416686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369190836	chr14:105416688-105416689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372745878	chr14:105416692-105416693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377372973	chr14:105416694-105416695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200409889	chr14:105416698-105416699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375555104	chr14:105416703-105416704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376939664	chr14:105416704-105416705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199684139	chr14:105416705-105416706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202046475	chr14:105416708-105416709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138175498	chr14:105416709-105416710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201030252	chr14:105416713-105416714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559744130	chr14:105416714-105416715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202059234	chr14:105416715-105416716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199542674	chr14:105416718-105416719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201995255	chr14:105416720-105416721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191233073	chr14:105416721-105416722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536864731	chr14:105416728-105416729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184146706	chr14:105416730-105416731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200117851	chr14:105416731-105416732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369781376	chr14:105416732-105416733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105399800-105419800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr14:105399800-105424000	Weak transcription	Hela-S3	cervix
3	chr14:105399800-105425000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:105400800-105424600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:105400800-105434000	Weak transcription	Aorta	Aorta
6	chr14:105401000-105423000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:105403400-105416800	Strong transcription	Stomach Smooth Muscle	stomach
8	chr14:105404000-105421800	Weak transcription	HUVEC	blood vessel
9	chr14:105404000-105429600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:105404200-105423400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:105406800-105421600	Weak transcription	NHLF	lung
12	chr14:105406800-105423600	Weak transcription	Pancreas	Pancrea
13	chr14:105407000-105420000	Weak transcription	Fetal Brain Female	brain
14	chr14:105407200-105426800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:105407400-105431800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:105407600-105419800	Weak transcription	HMEC	breast
17	chr14:105407600-105423000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:105407800-105423600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:105408000-105419600	Weak transcription	HSMMtube	muscle
20	chr14:105408000-105421000	Weak transcription	HSMM	muscle
21	chr14:105408200-105421600	Weak transcription	Brain Germinal Matrix	brain
22	chr14:105408400-105423600	Weak transcription	Gastric	stomach
23	chr14:105408800-105419600	Weak transcription	NHDF-Ad	bronchial
24	chr14:105410400-105419600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:105410600-105421200	Weak transcription	Fetal Muscle Leg	muscle
26	chr14:105410800-105420000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr14:105413800-105417000	Strong transcription	Fetal Stomach	stomach
28	chr14:105413800-105424600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:105414000-105420800	Weak transcription	Colon Smooth Muscle	Colon
30	chr14:105414800-105418000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr14:105415000-105421600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr14:105415200-105417800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:105415600-105419800	Weak transcription	A549	lung
34	chr14:105416200-105417000	Weak transcription	NHEK	skin
35	chr14:105416200-105421400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:105416400-105417400	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr14:105416400-105418200	Weak transcription	Esophagus	oesophagus
38	chr14:105416600-105418400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr14:105416800-105418400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr14:105417000-105417800	Weak transcription	Fetal Stomach	stomach
41	chr14:105417000-105426000	Strong transcription	NHEK	skin
42	chr14:105417400-105418200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr14:105417800-105418200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:105417800-105423000	Strong transcription	Fetal Stomach	stomach
45	chr14:105418000-105424400	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr14:105418200-105421600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:105418200-105424000	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr14:105418200-105424000	Strong transcription	Esophagus	oesophagus
49	chr14:105418400-105422600	Strong transcription	Stomach Smooth Muscle	stomach
50	chr14:105418400-105422800	Strong transcription	Fetal Muscle Trunk	muscle

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