Variant report

Variant	esv3332891
Chromosome Location	chr11:85819854-85823752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85778125..85779781-chr11:85819659..85821681,2	K562	blood:
2	chr11:85812308..85815576-chr11:85816844..85820250,5	K562	blood:
3	chr11:85818918..85820717-chr11:85851486..85854070,2	K562	blood:
4	chr11:85752580..85755769-chr11:85817812..85820593,3	K562	blood:
5	chr11:85823091..85825263-chr11:85834744..85836262,2	MCF-7	breast:
6	chr11:85816871..85820639-chr11:85825942..85829677,4	K562	blood:
7	chr11:85752580..85754495-chr11:85817812..85820593,2	K562	blood:
8	chr11:85822353..85824254-chr11:85904250..85906136,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254699	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117559118	chr11:85819893-85819894	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs541987194	chr11:85819946-85819947	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs561717857	chr11:85819956-85819957	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs575424149	chr11:85819990-85819991	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs544149279	chr11:85819991-85819992	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs373092441	chr11:85820003-85820004	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs564420427	chr11:85820016-85820017	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs533115312	chr11:85820020-85820021	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs186573889	chr11:85820030-85820031	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs543293	chr11:85820077-85820078	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs573101530	chr11:85820106-85820107	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs549487075	chr11:85820109-85820110	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs569326714	chr11:85820151-85820152	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs538451757	chr11:85820160-85820161	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs539161446	chr11:85820170-85820171	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs551748695	chr11:85820177-85820178	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs12277986	chr11:85820203-85820204	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs534546429	chr11:85820206-85820207	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs11827284	chr11:85820256-85820257	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs77730404	chr11:85820271-85820272	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs190300064	chr11:85820273-85820274	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs555460603	chr11:85820275-85820276	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs147062925	chr11:85820287-85820288	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs544403593	chr11:85820303-85820304	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs563992068	chr11:85820325-85820326	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs182507963	chr11:85820326-85820327	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs185174367	chr11:85820333-85820334	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs560096698	chr11:85820353-85820354	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs370556267	chr11:85820371-85820372	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs548228788	chr11:85820398-85820399	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs11602524	chr11:85820409-85820410	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs575975741	chr11:85820419-85820420	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs12577308	chr11:85820453-85820454	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs148023326	chr11:85820484-85820485	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs141742676	chr11:85820537-85820538	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs531767354	chr11:85820582-85820583	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs114902756	chr11:85820597-85820598	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs571910346	chr11:85820614-85820615	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs115546454	chr11:85820640-85820641	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs150581235	chr11:85820644-85820645	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs117524044	chr11:85820648-85820649	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs532052751	chr11:85820675-85820676	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs535448527	chr11:85820676-85820677	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs79356278	chr11:85820711-85820712	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs568935674	chr11:85820722-85820723	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs537589084	chr11:85820729-85820730	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs113176193	chr11:85820740-85820741	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs557518841	chr11:85820769-85820770	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs570400588	chr11:85820785-85820786	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs149332738	chr11:85820790-85820791	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	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	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
Obesity	20622171	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Cancer	20164919	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85813600-85826600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:85818400-85820200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:85818800-85820000	Enhancers	Primary hematopoietic stem cells	blood
4	chr11:85819000-85820000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr11:85819000-85820000	Enhancers	HUVEC	blood vessel
6	chr11:85819800-85820400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:85819800-85820800	Flanking Active TSS	K562	blood
8	chr11:85820000-85820600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:85820800-85823200	Weak transcription	K562	blood
10	chr11:85823200-85823600	Active TSS	K562	blood
11	chr11:85823600-85824200	Weak transcription	K562	blood

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