Variant report

Variant	esv3514531
Chromosome Location	chr3:195830232-195830678
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:195807412..195809662-chr3:195829533..195831213,2	K562	blood:
2	chr3:195809070..195810748-chr3:195828208..195830757,2	MCF-7	breast:
3	chr3:195824301..195827201-chr3:195827845..195831262,3	K562	blood:
4	chr3:195807310..195810071-chr3:195829797..195833358,4	K562	blood:

Variant related genes	Relation type
ENSG00000072274	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541013314	chr3:195830253-195830254	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs532139737	chr3:195830260-195830261	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs34544705	chr3:195830265-195830266	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568944165	chr3:195830275-195830276	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs73210009	chr3:195830276-195830277	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs548759645	chr3:195830289-195830290	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs58888051	chr3:195830295-195830296	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs9870831	chr3:195830297-195830298	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs111765256	chr3:195830300-195830301	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs552330658	chr3:195830309-195830310	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs9866168	chr3:195830310-195830311	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs114169169	chr3:195830311-195830312	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs116421159	chr3:195830312-195830313	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs570786467	chr3:195830313-195830314	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs376239652	chr3:195830320-195830321	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs113850870	chr3:195830323-195830324	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs9843923	chr3:195830324-195830325	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs9858768	chr3:195830330-195830331	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs76121673	chr3:195830347-195830348	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs71207509	chr3:195830355-195830356	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs71617334	chr3:195830365-195830366	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs71617335	chr3:195830375-195830376	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs144257652	chr3:195830379-195830380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs74203182	chr3:195830380-195830381	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs377393995	chr3:195830381-195830382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs71321895	chr3:195830382-195830383	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs77214594	chr3:195830390-195830391	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs71617332	chr3:195830394-195830395	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs71321898	chr3:195830400-195830401	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs112968899	chr3:195830405-195830406	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs72499683	chr3:195830414-195830415	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs79910076	chr3:195830416-195830417	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs76619416	chr3:195830417-195830418	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs111646958	chr3:195830418-195830419	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs77673038	chr3:195830425-195830426	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs79883698	chr3:195830429-195830430	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs367668597	chr3:195830435-195830436	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs71617333	chr3:195830450-195830451	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs199516260	chr3:195830452-195830453	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs139783970	chr3:195830463-195830464	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs71321896	chr3:195830464-195830465	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs67751241	chr3:195830470-195830471	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs67131704	chr3:195830475-195830476	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs74188185	chr3:195830480-195830481	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs138598260	chr3:195830486-195830487	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs34478972	chr3:195830487-195830488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs146600351	chr3:195830488-195830489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs183970640	chr3:195830495-195830496	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs71321897	chr3:195830499-195830500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs143892253	chr3:195830510-195830511	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:4 , 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

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