Variant report

Variant	esv1846836
Chromosome Location	chr3:195193108-195232990
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	chr3:195187214..195189677-chr3:195190793..195193536,2	K562	blood:

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

Extended variants
information (count: 600 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:600 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114201831	chr3:195193169-195193170	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs78449783	chr3:195193191-195193192	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs116303023	chr3:195193192-195193193	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs373287733	chr3:195193210-195193211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181516358	chr3:195193270-195193271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374230737	chr3:195193295-195193296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557598406	chr3:195193333-195193334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551058881	chr3:195193344-195193345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112114866	chr3:195193352-195193353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148194740	chr3:195193363-195193364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62285631	chr3:195193431-195193432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs568217150	chr3:195193444-195193445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186891906	chr3:195193456-195193457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567182404	chr3:195193518-195193519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534218700	chr3:195193591-195193592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542929945	chr3:195193598-195193599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115813710	chr3:195193608-195193609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373698296	chr3:195193620-195193621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538020975	chr3:195193662-195193663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77372312	chr3:195193663-195193664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575234072	chr3:195193677-195193678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536273291	chr3:195193685-195193686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573553011	chr3:195193718-195193719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573212278	chr3:195193719-195193720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190996015	chr3:195193723-195193724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191713410	chr3:195193746-195193747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565128495	chr3:195193780-195193781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577135163	chr3:195193782-195193783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62285632	chr3:195193790-195193791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs563036268	chr3:195193796-195193797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113513057	chr3:195193814-195193815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577893738	chr3:195193892-195193893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62285633	chr3:195193947-195193948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs560105155	chr3:195193960-195193961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527641142	chr3:195193962-195193963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371365130	chr3:195194048-195194049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146133864	chr3:195194051-195194052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200413926	chr3:195194055-195194056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201450385	chr3:195194059-195194060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183221649	chr3:195194062-195194063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148291505	chr3:195194078-195194079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371700611	chr3:195194082-195194083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545230130	chr3:195194103-195194104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112124211	chr3:195194121-195194122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142757880	chr3:195194131-195194132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185229395	chr3:195194141-195194142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535953487	chr3:195194149-195194150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189535811	chr3:195194170-195194171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183357029	chr3:195194171-195194172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572876992	chr3:195194173-195194174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:41 , 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	chr3:195192800-195193200	Active TSS	Stomach Smooth Muscle	stomach
3	chr3:195194600-195194800	Flanking Active TSS	HepG2	liver
4	chr3:195194800-195195000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:195194800-195195000	Enhancers	Esophagus	oesophagus
6	chr3:195194800-195195200	Enhancers	HepG2	liver
7	chr3:195195000-195195200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:195195200-195195400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:195195400-195198200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:195198200-195198400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:195230800-195238800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:195230800-195239400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:195231600-195231800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr3:195231600-195233200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:195231600-195233200	Weak transcription	Adipose Nuclei	Adipose
16	chr3:195231600-195233200	Weak transcription	Liver	Liver
17	chr3:195231600-195234200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr3:195231800-195236400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr3:195231800-195238800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr3:195231800-195238800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:195231800-195240000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr3:195232000-195234400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr3:195232000-195235000	Weak transcription	Primary T cells from cord blood	blood
24	chr3:195232000-195237000	Weak transcription	Primary B cells from cord blood	blood
25	chr3:195232000-195238800	Weak transcription	Placenta	Placenta
26	chr3:195232000-195239800	Weak transcription	Lung	lung
27	chr3:195232000-195267400	Weak transcription	Aorta	Aorta
28	chr3:195232200-195234200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr3:195232200-195235200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr3:195232200-195240000	Weak transcription	K562	blood
31	chr3:195232200-195262200	Weak transcription	Fetal Kidney	kidney
32	chr3:195232400-195235000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr3:195232400-195239800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr3:195232400-195240200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr3:195232400-195240400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr3:195232600-195235000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr3:195232600-195238800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr3:195232600-195239600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:195232600-195249800	Weak transcription	Spleen	Spleen
40	chr3:195232800-195233800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:195232800-195236400	Weak transcription	Fetal Thymus	thymus

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