Variant report

Variant	nsv971995
Chromosome Location	chr11:23540267-23542759
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	POLR2A	chr11:23542339-23542357	MCF-7	breast:	n/a	n/a
2	POLR2A	chr11:23542331-23542526	Gliobla	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000240881	TF binding region

Extended variants
information (count: 124 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566204189	chr11:23540303-23540304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538351218	chr11:23540305-23540306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558091370	chr11:23540312-23540313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs193275064	chr11:23540322-23540323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537750565	chr11:23540337-23540338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11027272	chr11:23540396-23540397	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs533790704	chr11:23540409-23540410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11027273	chr11:23540415-23540416	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs79463970	chr11:23540432-23540433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117803916	chr11:23540447-23540448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532297094	chr11:23540451-23540452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10834123	chr11:23540492-23540493	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs545527570	chr11:23540502-23540503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374162871	chr11:23540521-23540522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565268670	chr11:23540529-23540530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10834124	chr11:23540541-23540542	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs544563842	chr11:23540573-23540574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561593055	chr11:23540607-23540608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77836529	chr11:23540679-23540680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544507062	chr11:23540682-23540683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78249507	chr11:23540683-23540684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546745264	chr11:23540699-23540700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140646221	chr11:23540736-23540737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185025561	chr11:23540752-23540753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190266550	chr11:23540776-23540777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12224604	chr11:23540793-23540794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs144192585	chr11:23540798-23540799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10834125	chr11:23540838-23540839	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs568315173	chr11:23540853-23540854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145485119	chr11:23540861-23540862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562297815	chr11:23540881-23540882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577149162	chr11:23540915-23540916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115473122	chr11:23540926-23540927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11027274	chr11:23540957-23540958	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs575665891	chr11:23540980-23540981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546067849	chr11:23541060-23541061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544566588	chr11:23541072-23541073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181033699	chr11:23541132-23541133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561130552	chr11:23541162-23541163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530380070	chr11:23541211-23541212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540566965	chr11:23541230-23541231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560312184	chr11:23541238-23541239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532598016	chr11:23541291-23541292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551843534	chr11:23541345-23541346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7483970	chr11:23541382-23541383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs531325516	chr11:23541388-23541389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534820317	chr11:23541400-23541401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185453058	chr11:23541404-23541405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534069493	chr11:23541405-23541406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188713696	chr11:23541406-23541407	Weak transcription	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:23534400-23540800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:23539000-23540600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:23539600-23540800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr11:23540800-23541000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr11:23540800-23541200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:23541200-23548600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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