Variant report

Variant	esv3404883
Chromosome Location	chr3:195828355-195832553
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195806985..195811297-chr3:195832492..195837081,8	MCF-7	breast:
2	chr3:195827209..195829366-chr3:195848602..195851417,2	K562	blood:
3	chr3:195807412..195809662-chr3:195829533..195831213,2	K562	blood:
4	chr3:195827092..195829378-chr3:195833149..195835340,2	K562	blood:
5	chr3:195820003..195822218-chr3:195827394..195829467,2	MCF-7	breast:
6	chr3:195820719..195822713-chr3:195830788..195832866,2	K562	blood:
7	chr3:195824301..195827201-chr3:195827845..195831262,3	K562	blood:
8	chr3:195809070..195810748-chr3:195828208..195830757,2	MCF-7	breast:
9	chr3:195827209..195829338-chr3:195849917..195852372,2	K562	blood:
10	chr3:195807310..195810071-chr3:195829797..195833358,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000072274	chromatin interactions

Extended variants
information (count: 228 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:228 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111790489	chr3:195828360-195828361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs60891787	chr3:195828364-195828365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs578100580	chr3:195828379-195828380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539349381	chr3:195828548-195828549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35061490	chr3:195828557-195828558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557394550	chr3:195828578-195828579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58642435	chr3:195828586-195828587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs543043834	chr3:195828589-195828590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28413156	chr3:195828642-195828643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373947090	chr3:195828653-195828654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141240604	chr3:195828709-195828710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144952192	chr3:195828710-195828711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138898216	chr3:195828713-195828714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113880729	chr3:195828735-195828736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190598502	chr3:195828736-195828737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533002393	chr3:195828745-195828746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13059093	chr3:195828763-195828764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551519605	chr3:195828774-195828775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13093426	chr3:195828806-195828807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs13059230	chr3:195828812-195828813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368884424	chr3:195828842-195828843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs56224853	chr3:195828876-195828877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs548616161	chr3:195828901-195828902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376192972	chr3:195828903-195828904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577986848	chr3:195828918-195828919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368427223	chr3:195829047-195829048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566915070	chr3:195829050-195829051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76093470	chr3:195829067-195829068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546269672	chr3:195829120-195829121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73210008	chr3:195829131-195829132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs183519974	chr3:195829220-195829221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557480794	chr3:195829244-195829245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575893707	chr3:195829251-195829252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536934368	chr3:195829291-195829292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555036238	chr3:195829360-195829361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187805755	chr3:195829369-195829370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148244703	chr3:195829473-195829474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540087470	chr3:195829474-195829475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577227052	chr3:195829503-195829504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71321894	chr3:195829556-195829557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs116339150	chr3:195829559-195829560	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs563496404	chr3:195829629-195829630	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs201462269	chr3:195829641-195829642	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs199986304	chr3:195829642-195829643	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs368381538	chr3:195829643-195829644	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112857292	chr3:195829644-195829645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs376130872	chr3:195829645-195829646	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530755694	chr3:195829675-195829676	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs542499927	chr3:195829682-195829683	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs141237798	chr3:195829686-195829687	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195821600-195835000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:195827000-195831600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr3:195827400-195831800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr3:195828000-195838800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr3:195831200-195832400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:195831400-195832400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr3:195831600-195832400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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