Variant report

Variant	esv1796541
Chromosome Location	chr3:111978288-111992216
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	chr3:111987883..111989746-chr3:111993499..111996170,2	K562	blood:
2	chr3:111991351..111994279-chr3:111999124..112001304,2	K562	blood:

Extended variants
information (count: 501 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:501 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142595593	chr3:111978302-111978303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77965885	chr3:111978309-111978310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549295015	chr3:111978389-111978390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568938784	chr3:111978419-111978420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4682388	chr3:111978454-111978455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs371676862	chr3:111978492-111978493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62276973	chr3:111978516-111978517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs571371264	chr3:111978549-111978550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192211848	chr3:111978552-111978553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184534602	chr3:111978563-111978564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567118869	chr3:111978582-111978583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535757844	chr3:111978645-111978646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4682389	chr3:111978660-111978661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs150987937	chr3:111978701-111978702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544800917	chr3:111978733-111978734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190311819	chr3:111978747-111978748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4682390	chr3:111978753-111978754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs540202130	chr3:111978792-111978793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111975205	chr3:111978799-111978800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559970222	chr3:111978828-111978829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116529461	chr3:111978832-111978833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10934156	chr3:111978848-111978849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs562838488	chr3:111978853-111978854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115905317	chr3:111978856-111978857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551603326	chr3:111978877-111978878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182490954	chr3:111978913-111978914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529162146	chr3:111978962-111978963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59043683	chr3:111978970-111978971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs567129985	chr3:111979069-111979070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370969314	chr3:111979071-111979072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555743689	chr3:111979091-111979092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569537609	chr3:111979092-111979093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538022986	chr3:111979095-111979096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557946234	chr3:111979113-111979114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202013764	chr3:111979142-111979143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138204036	chr3:111979143-111979144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10934157	chr3:111979238-111979239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs534010216	chr3:111979273-111979274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554291015	chr3:111979340-111979341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140868183	chr3:111979356-111979357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184313783	chr3:111979360-111979361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11714145	chr3:111979383-111979384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs188788840	chr3:111979397-111979398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4560274	chr3:111979419-111979420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs554337640	chr3:111979473-111979474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28676269	chr3:111979474-111979475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4552323	chr3:111979531-111979532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs547512281	chr3:111979574-111979575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555295298	chr3:111979769-111979770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561047877	chr3:111979813-111979814	Weak transcription	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
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
Attention deficit hyperactivity disorder	22180640	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111972200-111999000	Weak transcription	Left Ventricle	heart
2	chr3:111980400-111980800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:111980400-111981200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr3:111980400-111981200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:111980600-111981000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:111980600-111981000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr3:111980600-111981200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr3:111990400-111991200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr3:111990600-111991000	Enhancers	Primary B cells from peripheral blood	blood
10	chr3:111990600-111991000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr3:111992000-111992600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr3:111992200-111992600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:111992200-111992800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr3:111992200-111992800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:111992200-111993000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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