Variant report

Variant	esv1801777
Chromosome Location	chr11:48690325-48884204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:48862246..48863766-chr12:38036979..38038502,2	MCF-7	breast:
2	chr1:121484496..121485051-chr11:48865024..48865528,2	K562	blood:
3	chr11:48811378..48811898-chr8:46850618..46851141,2	MCF-7	breast:
4	chr1:121484040..121484766-chr11:48865024..48865526,2	MCF-7	breast:

Extended variants
information (count: 12975 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:12975 , 50 per page) page: 1 2 3 4 5 6 7 ... 260

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374066007	chr11:48690343-48690344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs572426663	chr11:48690348-48690349	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs185804204	chr11:48690354-48690355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs564116090	chr11:48690359-48690360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs374686684	chr11:48690360-48690361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs556977283	chr11:48690399-48690400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs573729615	chr11:48690402-48690403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs532838268	chr11:48690430-48690431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs190338607	chr11:48690452-48690453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs529149678	chr11:48690476-48690477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs543548978	chr11:48690479-48690480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs368788133	chr11:48690485-48690486	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs114104801	chr11:48690486-48690487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs145339908	chr11:48690542-48690543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs565954020	chr11:48690545-48690546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs542908246	chr11:48690584-48690585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs201207828	chr11:48690589-48690590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs183307241	chr11:48690590-48690591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs202064660	chr11:48690627-48690628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs570828401	chr11:48690641-48690642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs77439757	chr11:48690671-48690672	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs371801761	chr11:48690684-48690685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs35935063	chr11:48690719-48690720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs187017598	chr11:48690725-48690726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs535624002	chr11:48690744-48690745	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs191810774	chr11:48690780-48690781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs114253529	chr11:48690798-48690799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs184237820	chr11:48690799-48690800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs186624634	chr11:48690812-48690813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs577604788	chr11:48690818-48690819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs115128321	chr11:48690845-48690846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs8188938	chr11:48690866-48690867	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs11529395	chr11:48690895-48690896	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs140866938	chr11:48690904-48690905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs559598675	chr11:48690922-48690923	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs11039911	chr11:48691045-48691046	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs551700694	chr11:48691065-48691066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs534106120	chr11:48691066-48691067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs35657090	chr11:48691082-48691083	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs72488334	chr11:48691093-48691094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs544340297	chr11:48691102-48691103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs372379468	chr11:48691103-48691104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs549784473	chr11:48691135-48691136	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs566320261	chr11:48691141-48691142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs75872052	chr11:48691155-48691156	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs77535439	chr11:48691169-48691170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs569778733	chr11:48691176-48691177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs369542720	chr11:48691192-48691193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs9667596	chr11:48691193-48691194	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs549117919	chr11:48691194-48691195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	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
Wilms tumour	21544195	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
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD
Medulloblastoma	21163964	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:536 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48688200-48691800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr11:48694000-48695400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr11:48694200-48695800	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr11:48695400-48695800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:48696800-48698200	ZNF genes & repeats	Liver	Liver
6	chr11:48697200-48699000	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr11:48698200-48698800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:48704600-48705400	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr11:48711000-48712200	ZNF genes & repeats	Liver	Liver
10	chr11:48717600-48718400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
11	chr11:48718000-48718200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
12	chr11:48718000-48718200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:48718000-48718200	ZNF genes & repeats	HUVEC	blood vessel
14	chr11:48718000-48718200	ZNF genes & repeats	NH-A	brain
15	chr11:48718000-48718400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr11:48718000-48718400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr11:48718000-48718600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
18	chr11:48718000-48719000	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr11:48718200-48718400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
20	chr11:48728000-48728800	ZNF genes & repeats	Liver	Liver
21	chr11:48728400-48728800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr11:48731000-48732600	ZNF genes & repeats	Liver	Liver
23	chr11:48731400-48733000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr11:48731400-48735600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:48732600-48733400	Weak transcription	Liver	Liver
26	chr11:48733200-48734600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr11:48733200-48735800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr11:48733400-48734200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
29	chr11:48733400-48734200	ZNF genes & repeats	Liver	Liver
30	chr11:48733400-48734400	ZNF genes & repeats	Adipose Nuclei	Adipose
31	chr11:48733800-48734200	Active TSS	Right Atrium	heart
32	chr11:48734200-48738400	Weak transcription	Right Atrium	heart
33	chr11:48736600-48742600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:48738000-48739600	ZNF genes & repeats	Adipose Nuclei	Adipose
35	chr11:48738400-48739200	Active TSS	Right Atrium	heart
36	chr11:48738800-48742000	ZNF genes & repeats	Liver	Liver
37	chr11:48741200-48742400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:48743800-48744600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
39	chr11:48744200-48744800	ZNF genes & repeats	Liver	Liver
40	chr11:48750800-48751400	ZNF genes & repeats	Adipose Nuclei	Adipose
41	chr11:48762000-48763800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
42	chr11:48762600-48764200	ZNF genes & repeats	Liver	Liver
43	chr11:48763000-48763600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:48763000-48765600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr11:48763200-48763400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
46	chr11:48763200-48763600	Active TSS	Aorta	Aorta
47	chr11:48763200-48763600	ZNF genes & repeats	Brain Anterior Caudate	brain
48	chr11:48763200-48763600	ZNF genes & repeats	Brain Hippocampus Middle	brain
49	chr11:48763200-48763600	ZNF genes & repeats	Brain Substantia Nigra	brain
50	chr11:48763200-48766200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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