Variant report

Variant	esv3323258
Chromosome Location	chr3:111241762-111246760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 221 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:221 , 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	rs567371169	chr3:111241769-111241770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535634760	chr3:111241770-111241771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556002122	chr3:111241796-111241797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114517120	chr3:111241799-111241800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558768235	chr3:111241868-111241869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375286161	chr3:111241987-111241988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112729399	chr3:111242020-111242021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558160012	chr3:111242060-111242061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189913573	chr3:111242079-111242080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540635955	chr3:111242124-111242125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146399576	chr3:111242132-111242133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139227736	chr3:111242271-111242272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183203816	chr3:111242272-111242273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371705834	chr3:111242304-111242305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187823162	chr3:111242310-111242311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562382788	chr3:111242398-111242399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149564594	chr3:111242407-111242408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544930826	chr3:111242421-111242422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541198432	chr3:111242430-111242431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34942967	chr3:111242445-111242446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62273523	chr3:111242450-111242451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564857853	chr3:111242475-111242476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192448428	chr3:111242492-111242493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547379652	chr3:111242551-111242552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567205341	chr3:111242560-111242561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553306385	chr3:111242578-111242579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574744197	chr3:111242745-111242746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113371357	chr3:111242746-111242747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373297472	chr3:111242784-111242785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529845607	chr3:111242785-111242786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184574628	chr3:111242820-111242821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187762706	chr3:111242824-111242825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538460990	chr3:111242835-111242836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13434125	chr3:111242869-111242870	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs571917056	chr3:111242897-111242898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370651996	chr3:111242947-111242948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533892272	chr3:111242959-111242960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144254285	chr3:111243028-111243029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150592475	chr3:111243039-111243040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75690075	chr3:111243040-111243041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555917841	chr3:111243067-111243068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184367308	chr3:111243072-111243073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534308612	chr3:111243132-111243133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375923188	chr3:111243158-111243159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563339314	chr3:111243173-111243174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12630746	chr3:111243177-111243178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148742265	chr3:111243186-111243187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547720233	chr3:111243199-111243200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6769311	chr3:111243214-111243215	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs189260168	chr3:111243224-111243225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111236400-111249600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:111237000-111242400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:111242400-111243600	Enhancers	Primary B cells from peripheral blood	blood
4	chr3:111243200-111243400	Enhancers	Placenta	Placenta
5	chr3:111243400-111244200	Weak transcription	Placenta	Placenta
6	chr3:111243600-111249000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr3:111244200-111244400	Enhancers	Placenta	Placenta
8	chr3:111245600-111246000	Enhancers	Fetal Thymus	thymus

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