Variant report

Variant	nsv467738
Chromosome Location	chr11:23564843-23585876
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	chr11:23135057..23135761-chr11:23575313..23576218,2	MCF-7	breast:

Extended variants
information (count: 686 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:686 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11027305	chr11:23564843-23564844	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577187202	chr11:23564874-23564875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139695526	chr11:23564907-23564908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562656434	chr11:23564921-23564922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531506370	chr11:23564922-23564923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541663531	chr11:23564933-23564934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374673710	chr11:23565056-23565057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561393963	chr11:23565076-23565077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530175385	chr11:23565085-23565086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114104400	chr11:23565098-23565099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114761031	chr11:23565110-23565111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532654254	chr11:23565111-23565112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552804518	chr11:23565118-23565119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571359771	chr11:23565133-23565134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181973746	chr11:23565166-23565167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376626802	chr11:23565209-23565210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543297389	chr11:23565211-23565212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185939104	chr11:23565237-23565238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76936943	chr11:23565259-23565260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372616975	chr11:23565328-23565329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs80199539	chr11:23565386-23565387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12796509	chr11:23565493-23565494	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs145772040	chr11:23565548-23565549	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12420082	chr11:23565554-23565555	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs545504044	chr11:23565561-23565562	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556376454	chr11:23565566-23565567	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200511620	chr11:23565592-23565593	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576268831	chr11:23565593-23565594	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370378621	chr11:23565616-23565617	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541998994	chr11:23565632-23565633	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561596762	chr11:23565665-23565666	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77958309	chr11:23565691-23565692	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540364141	chr11:23565741-23565742	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560231292	chr11:23565777-23565778	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74733178	chr11:23565830-23565831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72879202	chr11:23565894-23565895	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs190652035	chr11:23565901-23565902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531957474	chr11:23566006-23566007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs3051722	chr11:23566023-23566024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373465120	chr11:23566024-23566025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143349915	chr11:23566031-23566032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78383516	chr11:23566042-23566043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1381723	chr11:23566052-23566053	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs570131525	chr11:23566112-23566113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76287107	chr11:23566217-23566218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12278015	chr11:23566234-23566235	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs540791643	chr11:23566258-23566259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371094067	chr11:23566361-23566362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570565358	chr11:23566362-23566363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181751970	chr11:23566369-23566370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:23561600-23577600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:23561800-23565400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:23563000-23565400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:23563400-23565400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:23564000-23565400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:23564000-23565400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:23564000-23565600	Enhancers	HUVEC	blood vessel
8	chr11:23564200-23565200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:23564400-23565400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:23564800-23565400	Weak transcription	Dnd41	blood
11	chr11:23565200-23566000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr11:23565400-23565600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr11:23565400-23565800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:23565400-23565800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr11:23565400-23565800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr11:23565400-23565800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:23565400-23565800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:23565400-23565800	Enhancers	Dnd41	blood
19	chr11:23565800-23566000	Weak transcription	Dnd41	blood
20	chr11:23565800-23568600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:23566000-23566600	Enhancers	Dnd41	blood
22	chr11:23571600-23572000	Enhancers	Dnd41	blood
23	chr11:23571800-23572400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:23575600-23577600	Enhancers	HUVEC	blood vessel
25	chr11:23576200-23576800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:23576400-23577400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:23576800-23577400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:23576800-23577600	Enhancers	Hela-S3	cervix
29	chr11:23577000-23577600	Enhancers	NH-A	brain
30	chr11:23577200-23578400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:23577200-23578400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:23577200-23578600	Enhancers	Dnd41	blood
33	chr11:23577600-23578400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:23577600-23579800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr11:23578000-23578400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr11:23579800-23580400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr11:23580000-23580600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr11:23580200-23580600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr11:23585400-23587000	Enhancers	Dnd41	blood
40	chr11:23585600-23587800	Enhancers	Brain Germinal Matrix	brain
41	chr11:23585800-23586200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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