Variant report

Variant	esv3380579
Chromosome Location	chr3:102727862-102731460
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	chr10:44756642..44757448-chr3:102730464..102731003,2	MCF-7	breast:
2	chr20:61600485..61601062-chr3:102727370..102728350,2	NB4	blood:

Variant related genes	Relation type
ENSG00000237590	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184801964	chr3:102727900-102727901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189311465	chr3:102727904-102727905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537595557	chr3:102727992-102727993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148607511	chr3:102728011-102728012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571391680	chr3:102728018-102728019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373124678	chr3:102728041-102728042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538920108	chr3:102728085-102728086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553807750	chr3:102728088-102728089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142076562	chr3:102728139-102728140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376336747	chr3:102728232-102728233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540245246	chr3:102728236-102728237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78251974	chr3:102728239-102728240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192265403	chr3:102728270-102728271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538292474	chr3:102728311-102728312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544441522	chr3:102728327-102728328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1390673	chr3:102728354-102728355	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553745862	chr3:102728371-102728372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533408167	chr3:102728475-102728476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545661338	chr3:102728560-102728561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560802583	chr3:102728577-102728578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75628435	chr3:102728804-102728805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549001223	chr3:102728806-102728807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571919848	chr3:102728833-102728834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567328409	chr3:102728846-102728847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557215244	chr3:102728876-102728877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536948742	chr3:102729026-102729027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531425702	chr3:102729049-102729050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150744350	chr3:102729050-102729051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571395252	chr3:102729063-102729064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538488622	chr3:102729080-102729081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185014653	chr3:102729090-102729091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373990001	chr3:102729099-102729100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565657520	chr3:102729105-102729106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533888774	chr3:102729113-102729114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73153119	chr3:102729162-102729163	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs573741019	chr3:102729199-102729200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189864358	chr3:102729255-102729256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71103735	chr3:102729279-102729280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112557534	chr3:102729283-102729284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202081067	chr3:102729289-102729290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181190044	chr3:102729293-102729294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150705420	chr3:102729299-102729300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs397758435	chr3:102729303-102729304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200742567	chr3:102729304-102729305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186158064	chr3:102729342-102729343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552866166	chr3:102729362-102729363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578111951	chr3:102729395-102729396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141202950	chr3:102729406-102729407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375773432	chr3:102729425-102729426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560739800	chr3:102729496-102729497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:102723600-102731400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:102726600-102728600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:102727800-102729600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr3:102728000-102728800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:102728000-102729400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:102728200-102729600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr3:102728400-102729000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:102728400-102729800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:102728600-102728800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:102728600-102729000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr3:102728800-102729200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:102729400-102730000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:102730000-102730200	Enhancers	HUES48 Cell Line	embryonic stem cell

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