Variant report

Variant	esv3366991
Chromosome Location	chr3:111273062-111276060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:111272648..111276502-chr8:128532438..128536275,5	MCF-7	breast:
2	chr3:111273689..111274382-chr8:128533387..128534163,3	MCF-7	breast:
3	chr3:111272610..111274604-chr8:128532692..128534798,3	MCF-7	breast:

Extended variants
information (count: 146 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575884759	chr3:111273115-111273116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575737495	chr3:111273124-111273125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116657550	chr3:111273147-111273148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558148885	chr3:111273176-111273177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372779786	chr3:111273180-111273181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs578223861	chr3:111273237-111273238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9840887	chr3:111273250-111273251	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs148998090	chr3:111273303-111273304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7648890	chr3:111273326-111273327	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs542672330	chr3:111273336-111273337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562684424	chr3:111273350-111273351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143828984	chr3:111273445-111273446	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74675527	chr3:111273446-111273447	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114660547	chr3:111273476-111273477	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184071191	chr3:111273506-111273507	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188602875	chr3:111273530-111273531	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7616420	chr3:111273532-111273533	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs191704226	chr3:111273535-111273536	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182959105	chr3:111273545-111273546	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372503782	chr3:111273563-111273564	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186892075	chr3:111273570-111273571	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34602336	chr3:111273587-111273588	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538042697	chr3:111273597-111273598	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12633539	chr3:111273600-111273601	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs574124939	chr3:111273692-111273693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs578128124	chr3:111273702-111273703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534177088	chr3:111273738-111273739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191732418	chr3:111273785-111273786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368779064	chr3:111273786-111273787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183471458	chr3:111273812-111273813	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141843779	chr3:111273830-111273831	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576448241	chr3:111273831-111273832	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187765871	chr3:111273833-111273834	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565044178	chr3:111273839-111273840	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527489578	chr3:111273891-111273892	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547703085	chr3:111273892-111273893	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561211613	chr3:111273909-111273910	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77418111	chr3:111273928-111273929	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78551718	chr3:111273965-111273966	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569568800	chr3:111273971-111273972	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538700389	chr3:111273984-111273985	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551991399	chr3:111273986-111273987	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571772761	chr3:111274006-111274007	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534165101	chr3:111274017-111274018	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372342890	chr3:111274024-111274025	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574022327	chr3:111274062-111274063	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73852803	chr3:111274067-111274068	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs576623260	chr3:111274073-111274074	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556492818	chr3:111274074-111274075	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146437175	chr3:111274102-111274103	Weak transcription ZNF genes & repeats Strong 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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111268000-111275000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr3:111268800-111275000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr3:111268800-111281400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:111269400-111273600	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr3:111269800-111273600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:111269800-111289200	Weak transcription	Thymus	Thymus
7	chr3:111271600-111273400	Weak transcription	Dnd41	blood
8	chr3:111271600-111273800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr3:111271600-111273800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr3:111271600-111274400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr3:111271600-111274800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr3:111271600-111275000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr3:111271600-111281000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr3:111271600-111286000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr3:111271600-111286200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:111271600-111286600	Weak transcription	Fetal Thymus	thymus
17	chr3:111272600-111273800	Weak transcription	Primary T cells from cord blood	blood
18	chr3:111272600-111274400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr3:111272600-111274400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr3:111273400-111273600	Strong transcription	Dnd41	blood
21	chr3:111273600-111273800	Weak transcription	Dnd41	blood
22	chr3:111273600-111274000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr3:111273600-111274600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr3:111273800-111274000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr3:111273800-111274600	ZNF genes & repeats	Primary T cells from cord blood	blood
26	chr3:111273800-111275000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr3:111273800-111275000	ZNF genes & repeats	Dnd41	blood
28	chr3:111274000-111274400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr3:111274000-111275000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:111274400-111274600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr3:111274400-111275000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr3:111274400-111275000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr3:111274400-111275000	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr3:111274600-111274800	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr3:111274600-111281600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr3:111275000-111276200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:111275000-111281000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr3:111275000-111281000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr3:111275000-111283800	Weak transcription	Dnd41	blood

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