Variant report

Variant	esv2760170
Chromosome Location	chr11:54840271-54940342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5767 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:5767 , 50 per page) page: 1 2 3 4 5 6 7 ... 116

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4939000	chr11:54840271-54840272	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs117443754	chr11:54840276-54840277	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs578047704	chr11:54840281-54840282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs61898073	chr11:54840287-54840288	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs112880313	chr11:54840288-54840289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs191785105	chr11:54840316-54840317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs9667973	chr11:54840330-54840331	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs369692321	chr11:54840333-54840334	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs542219717	chr11:54840359-54840360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs111677866	chr11:54840370-54840371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs575637293	chr11:54840384-54840385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs546420686	chr11:54840386-54840387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs11228259	chr11:54840387-54840388	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs200076230	chr11:54840395-54840396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs183513410	chr11:54840396-54840397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs113317027	chr11:54840400-54840401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs546906839	chr11:54840411-54840412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs4454741	chr11:54840413-54840414	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs141040265	chr11:54840417-54840418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs189119181	chr11:54840425-54840426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs181001450	chr11:54840451-54840452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs536750159	chr11:54840468-54840469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs4939518	chr11:54840472-54840473	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs187167056	chr11:54840480-54840481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs12361473	chr11:54840489-54840490	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs370279952	chr11:54840505-54840506	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs553330485	chr11:54840530-54840531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs116015528	chr11:54840531-54840532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs535888876	chr11:54840536-54840537	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs557071932	chr11:54840565-54840566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs375667228	chr11:54840570-54840571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs79577263	chr11:54840579-54840580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs564572494	chr11:54840590-54840591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs4454742	chr11:54840592-54840593	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs181460738	chr11:54840593-54840594	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs117740098	chr11:54840603-54840604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs186104498	chr11:54840641-54840642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs190133234	chr11:54840648-54840649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs547828836	chr11:54840666-54840667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs2688708	chr11:54840670-54840671	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530491065	chr11:54840679-54840680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs182726865	chr11:54840687-54840688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs553207860	chr11:54840713-54840714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs78312595	chr11:54840716-54840717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs111247263	chr11:54840790-54840791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs186704425	chr11:54840866-54840867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs371028833	chr11:54840876-54840877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs112225127	chr11:54840877-54840878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs190774253	chr11:54840878-54840879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs568409054	chr11:54840918-54840919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	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
Multiple myeloma	16616336	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Alcoholism	21790672	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:54831000-54841800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr11:54839000-54844200	ZNF genes & repeats	Liver	Liver
3	chr11:54839600-54843400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:54840000-54843600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr11:54840200-54842400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr11:54841400-54844200	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr11:54844400-54847800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr11:54844800-54851800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:54846600-54848200	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr11:54859000-54860000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr11:54861400-54868200	ZNF genes & repeats	Liver	Liver
12	chr11:54862600-54863000	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr11:54863800-54872800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:54864400-54865600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr11:54873000-54876000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr11:54875000-54875200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:54875400-54875800	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr11:54875800-54879400	Weak transcription	Adipose Nuclei	Adipose
19	chr11:54879400-54883200	ZNF genes & repeats	Adipose Nuclei	Adipose
20	chr11:54881400-54884400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr11:54881600-54885400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr11:54882800-54884400	ZNF genes & repeats	Liver	Liver
23	chr11:54888000-54888600	ZNF genes & repeats	Liver	Liver
24	chr11:54889200-54890400	Weak transcription	Stomach Mucosa	stomach
25	chr11:54890400-54891000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
26	chr11:54890400-54891000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr11:54890600-54890800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:54890600-54890800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
29	chr11:54890600-54890800	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr11:54890600-54890800	Active TSS	Ovary	ovary
31	chr11:54890600-54891000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
32	chr11:54890600-54891000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:54890600-54891000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:54890600-54891000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
35	chr11:54890600-54891000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:54890600-54891000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:54890600-54891000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:54890600-54891000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
39	chr11:54890600-54891000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
40	chr11:54890600-54891000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
41	chr11:54890600-54891000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:54890600-54891000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:54890600-54891000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
44	chr11:54890600-54891000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
45	chr11:54890600-54891000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
46	chr11:54890600-54891000	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:54890600-54891000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
48	chr11:54890600-54891000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:54890600-54891000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
50	chr11:54890600-54891000	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--

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