Variant report

Variant	esv1832244
Chromosome Location	chr3:195194263-195232990
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACAP2-1	chr3:195204068-195204142	refGeneNc_4303_NR_033944

Extended variants
information (count: 541 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:541 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141363279	chr3:195194265-195194266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150385009	chr3:195194266-195194267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78818889	chr3:195194298-195194299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78468757	chr3:195194299-195194300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77022131	chr3:195194304-195194305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76294732	chr3:195194314-195194315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80291778	chr3:195194327-195194328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79520650	chr3:195194329-195194330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372967787	chr3:195194336-195194337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548325696	chr3:195194351-195194352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368871390	chr3:195194352-195194353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566540679	chr3:195194353-195194354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533807795	chr3:195194359-195194360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558568066	chr3:195194365-195194366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147628125	chr3:195194369-195194370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184763077	chr3:195194375-195194376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369648445	chr3:195194394-195194395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556382626	chr3:195194395-195194396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142121197	chr3:195194398-195194399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545479835	chr3:195194399-195194400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541980517	chr3:195194415-195194416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141413349	chr3:195194435-195194436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73208936	chr3:195194440-195194441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs572185497	chr3:195194467-195194468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545840322	chr3:195194473-195194474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62285634	chr3:195194558-195194559	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs10624876	chr3:195194600-195194601	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs62989562	chr3:195194601-195194602	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs76827742	chr3:195194608-195194609	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs543313656	chr3:195194634-195194635	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs62285635	chr3:195194643-195194644	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs112851610	chr3:195194674-195194675	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs191304376	chr3:195194680-195194681	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs377066926	chr3:195194698-195194699	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs529480522	chr3:195194712-195194713	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs369739743	chr3:195194722-195194723	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs549348345	chr3:195194723-195194724	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs2641367	chr3:195194740-195194741	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs531999718	chr3:195194752-195194753	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs375937020	chr3:195194772-195194773	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs550245105	chr3:195194781-195194782	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs369822609	chr3:195194796-195194797	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs570362046	chr3:195194806-195194807	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184941019	chr3:195194866-195194867	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189722051	chr3:195194920-195194921	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145600033	chr3:195195006-195195007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181214238	chr3:195195029-195195030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148830026	chr3:195195051-195195052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1873967	chr3:195195066-195195067	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs572245543	chr3:195195078-195195079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195182600-195194800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:195194600-195194800	Flanking Active TSS	HepG2	liver
3	chr3:195194800-195195000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:195194800-195195000	Enhancers	Esophagus	oesophagus
5	chr3:195194800-195195200	Enhancers	HepG2	liver
6	chr3:195195000-195195200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:195195200-195195400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:195195400-195198200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:195198200-195198400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:195230800-195238800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:195230800-195239400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:195231600-195231800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr3:195231600-195233200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr3:195231600-195233200	Weak transcription	Adipose Nuclei	Adipose
15	chr3:195231600-195233200	Weak transcription	Liver	Liver
16	chr3:195231600-195234200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr3:195231800-195236400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr3:195231800-195238800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr3:195231800-195238800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr3:195231800-195240000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr3:195232000-195234400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr3:195232000-195235000	Weak transcription	Primary T cells from cord blood	blood
23	chr3:195232000-195237000	Weak transcription	Primary B cells from cord blood	blood
24	chr3:195232000-195238800	Weak transcription	Placenta	Placenta
25	chr3:195232000-195239800	Weak transcription	Lung	lung
26	chr3:195232000-195267400	Weak transcription	Aorta	Aorta
27	chr3:195232200-195234200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr3:195232200-195235200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr3:195232200-195240000	Weak transcription	K562	blood
30	chr3:195232200-195262200	Weak transcription	Fetal Kidney	kidney
31	chr3:195232400-195235000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr3:195232400-195239800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr3:195232400-195240200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr3:195232400-195240400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr3:195232600-195235000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr3:195232600-195238800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr3:195232600-195239600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:195232600-195249800	Weak transcription	Spleen	Spleen
39	chr3:195232800-195233800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:195232800-195236400	Weak transcription	Fetal Thymus	thymus

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