Variant report

Variant	nsv975975
Chromosome Location	chr11:104551109-104557341
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr11:104554232-104554322	MCF10A-Er-Src	breast:	n/a	n/a
2	MAFK	chr11:104556044-104556207	HepG2	liver:	n/a	n/a
3	SETDB1	chr11:104556046-104556257	U2OS	brain:	n/a	n/a
4	STAT3	chr11:104555582-104555737	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000270449	TF binding region

Extended variants
information (count: 202 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:202 , 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	rs145148069	chr11:104551115-104551116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192832316	chr11:104551126-104551127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183351792	chr11:104551152-104551153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536936670	chr11:104551204-104551205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201846916	chr11:104551206-104551207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74558521	chr11:104551207-104551208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs398017409	chr11:104551220-104551221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565737959	chr11:104551275-104551276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186841527	chr11:104551330-104551331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557759146	chr11:104551363-104551364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375063447	chr11:104551515-104551516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577728377	chr11:104551532-104551533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546164867	chr11:104551543-104551544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147158924	chr11:104551551-104551552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576560384	chr11:104551553-104551554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542451572	chr11:104551573-104551574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561957675	chr11:104551592-104551593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572384525	chr11:104551632-104551633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527750804	chr11:104551658-104551659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528946441	chr11:104551668-104551669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541140928	chr11:104551692-104551693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191322602	chr11:104551736-104551737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10895718	chr11:104551887-104551888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs117661684	chr11:104551913-104551914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183763112	chr11:104551914-104551915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188143853	chr11:104552013-104552014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531649342	chr11:104552120-104552121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111506746	chr11:104552142-104552143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112350302	chr11:104552164-104552165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372771933	chr11:104552258-104552259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551419165	chr11:104552264-104552265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139502809	chr11:104552302-104552303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149674845	chr11:104552310-104552311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534672460	chr11:104552373-104552374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551536498	chr11:104552397-104552398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571136624	chr11:104552405-104552406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571494811	chr11:104552406-104552407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539887094	chr11:104552419-104552420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2187130	chr11:104552425-104552426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs556571866	chr11:104552461-104552462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149029623	chr11:104552543-104552544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576637098	chr11:104552549-104552550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79314256	chr11:104552581-104552582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61893225	chr11:104552593-104552594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535907181	chr11:104552658-104552659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541101994	chr11:104552673-104552674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193283641	chr11:104552689-104552690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531284694	chr11:104552702-104552703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577948319	chr11:104552802-104552803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543758096	chr11:104552856-104552857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104549000-104551400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr11:104549200-104551200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr11:104549200-104551200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr11:104549600-104551600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr11:104550600-104555600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:104550600-104557800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:104551000-104555400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:104551200-104555600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:104551200-104555800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:104551400-104555400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:104551600-104555600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:104555400-104556200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr11:104555400-104556200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr11:104555600-104556000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr11:104555600-104556200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr11:104555600-104556200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr11:104555800-104556200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr11:104556000-104557600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:104556200-104557200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:104556200-104557200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:104556200-104557400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:104556200-104557600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:104556200-104557800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:104556400-104557800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr11:104557200-104559600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr11:104557200-104560000	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links