Variant report

Variant	esv3419453
Chromosome Location	chr11:32449378-32449886
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	chr11:32420914..32422943-chr11:32448387..32450097,2	K562	blood:
2	chr11:32413863..32417759-chr11:32446575..32449998,5	K562	blood:

Variant related genes	Relation type
ENSG00000184937	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182249118	chr11:32449388-32449389	Bivalent/Poised TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs551148862	chr11:32449397-32449398	Bivalent/Poised TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs5030171	chr11:32449417-32449418	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540084316	chr11:32449419-32449420	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs200075502	chr11:32449420-32449421	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs565650860	chr11:32449438-32449439	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs372118657	chr11:32449480-32449481	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534585222	chr11:32449481-32449482	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs1799933	chr11:32449486-32449487	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs368452754	chr11:32449530-32449531	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548704325	chr11:32449537-32449538	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs145425799	chr11:32449540-32449541	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs138073760	chr11:32449559-32449560	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200222400	chr11:32449564-32449565	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs536750501	chr11:32449573-32449574	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs372225738	chr11:32449604-32449605	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375514482	chr11:32449618-32449619	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs5030168	chr11:32449624-32449625	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs199499324	chr11:32449649-32449650	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs2234585	chr11:32449661-32449662	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs559203418	chr11:32449671-32449672	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs201324964	chr11:32449677-32449678	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs572832692	chr11:32449685-32449686	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs61889224	chr11:32449749-32449750	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs186598490	chr11:32449764-32449765	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs144615463	chr11:32449776-32449777	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs5030166	chr11:32449799-32449800	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs147467689	chr11:32449826-32449827	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs538865804	chr11:32449857-32449858	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs557143525	chr11:32449860-32449861	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs139960084	chr11:32449875-32449876	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	22286061	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	21518781	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32447600-32449800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr11:32447600-32450000	Bivalent Enhancer	Fetal Heart	heart
3	chr11:32447800-32449800	Bivalent Enhancer	Fetal Brain Male	brain
4	chr11:32447800-32450000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr11:32448000-32449600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr11:32448000-32450000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr11:32448000-32450000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:32448200-32449600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr11:32448200-32449600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr11:32448200-32449800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
11	chr11:32448200-32450000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr11:32448400-32449600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:32448400-32449600	Enhancers	Pancreas	Pancrea
14	chr11:32448600-32449400	Bivalent Enhancer	Fetal Stomach	stomach
15	chr11:32448600-32449800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
16	chr11:32448600-32449800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
17	chr11:32448600-32450200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:32448600-32450400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
19	chr11:32448800-32449600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:32448800-32449600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:32448800-32449800	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr11:32448800-32450000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:32448800-32450200	ZNF genes & repeats	Spleen	Spleen
24	chr11:32448800-32450400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:32448800-32450600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:32448800-32454800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr11:32449000-32449400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:32449000-32449600	Genic enhancers	Ovary	ovary
29	chr11:32449000-32449800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
30	chr11:32449000-32449800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:32449000-32450000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:32449000-32450200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
33	chr11:32449000-32450200	Enhancers	Right Ventricle	heart
34	chr11:32449000-32450400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr11:32449000-32450600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
36	chr11:32449000-32450600	Bivalent Enhancer	Fetal Thymus	thymus
37	chr11:32449200-32449400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:32449200-32449400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
39	chr11:32449200-32449400	Bivalent Enhancer	Thymus	Thymus
40	chr11:32449200-32449600	Enhancers	Primary hematopoietic stem cells	blood
41	chr11:32449200-32449600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
42	chr11:32449200-32449600	Strong transcription	K562	blood
43	chr11:32449200-32449800	Bivalent/Poised TSS	Fetal Kidney	kidney
44	chr11:32449200-32450200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr11:32449200-32450200	Bivalent Enhancer	Brain Germinal Matrix	brain
46	chr11:32449200-32450200	Enhancers	Right Atrium	heart
47	chr11:32449200-32450400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
48	chr11:32449200-32450400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:32449400-32449600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:32449400-32449600	Flanking Bivalent TSS/Enh	Thymus	Thymus

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