Variant report

Variant	nsv556194
Chromosome Location	chr11:104259829-104272940
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:104258415..104260627-chr11:104273421..104275003,2	K562	blood:
2	chr11:104266914..104269126-chr11:104273371..104275072,3	K562	blood:
3	chr11:104263922..104265459-chr11:104276498..104278542,2	K562	blood:
4	chr11:104255184..104256827-chr11:104259492..104261329,2	K562	blood:

Extended variants
information (count: 470 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11226341	chr11:104259829-104259830	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542080768	chr11:104259914-104259915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79411029	chr11:104259969-104259970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76909951	chr11:104259970-104259971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184495301	chr11:104259980-104259981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375736841	chr11:104260001-104260002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527404453	chr11:104260031-104260032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550905931	chr11:104260045-104260046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547033251	chr11:104260068-104260069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373451286	chr11:104260099-104260100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564119912	chr11:104260103-104260104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532808283	chr11:104260104-104260105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570754574	chr11:104260187-104260188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75403554	chr11:104260205-104260206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs397849761	chr11:104260206-104260207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201954821	chr11:104260219-104260220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552450461	chr11:104260220-104260221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199999367	chr11:104260221-104260222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200182162	chr11:104260222-104260223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187302576	chr11:104260228-104260229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78112692	chr11:104260237-104260238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76803599	chr11:104260239-104260240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139290068	chr11:104260284-104260285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548777410	chr11:104260400-104260401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12792485	chr11:104260403-104260404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79345273	chr11:104260422-104260423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534302217	chr11:104260429-104260430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143755901	chr11:104260437-104260438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10649083	chr11:104260466-104260467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs67278562	chr11:104260467-104260468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377727132	chr11:104260485-104260486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs3053301	chr11:104260486-104260487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs5019582	chr11:104260493-104260494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577300298	chr11:104260507-104260508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566809235	chr11:104260524-104260525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144325002	chr11:104260596-104260597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535121688	chr11:104260616-104260617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556481736	chr11:104260618-104260619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576420439	chr11:104260621-104260622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558776672	chr11:104260639-104260640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112214187	chr11:104260645-104260646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73607680	chr11:104260651-104260652	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs572007203	chr11:104260678-104260679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191699061	chr11:104260689-104260690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564075188	chr11:104260718-104260719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532747330	chr11:104260720-104260721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184564517	chr11:104260736-104260737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371917088	chr11:104260757-104260758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531902807	chr11:104260784-104260785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555316045	chr11:104260799-104260800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Melanoma	17363583	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Obesity	19966786	CNVD
Tetralogy of Fallot	22912587	CNVD
Prostate cancer	18632612	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104257400-104261400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:104257600-104262800	Weak transcription	Psoas Muscle	Psoas
3	chr11:104260400-104260600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:104260600-104260800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr11:104260600-104263200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:104260800-104261400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:104261000-104262400	Enhancers	NH-A	brain
8	chr11:104261200-104261600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr11:104261400-104261600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr11:104261600-104264800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:104262800-104263400	Enhancers	Psoas Muscle	Psoas
12	chr11:104263200-104263400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:104263400-104264000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:104264800-104265400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr11:104265000-104265200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr11:104265200-104265400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr11:104265200-104265400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr11:104265200-104266000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr11:104265200-104267000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr11:104265200-104267800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr11:104265400-104266800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:104265600-104266600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:104266400-104267800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:104266600-104267800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr11:104266800-104267800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr11:104267000-104267400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:104267000-104267600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr11:104267000-104267600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr11:104267400-104271600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:104267600-104273200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr11:104267600-104273400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:104267800-104273200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:104267800-104273200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:104267800-104273200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:104271600-104272000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr11:104272000-104273400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr11:104272200-104273600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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