Variant report

Variant	esv1837493
Chromosome Location	chr11:48706458-48850787
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	chr11:48811378..48811898-chr8:46850618..46851141,2	MCF-7	breast:

Extended variants
information (count: 8968 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:8968 , 50 per page) page: 1 2 3 4 5 6 7 ... 180

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140772963	chr11:48711024-48711025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs561434582	chr11:48711039-48711040	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs143111323	chr11:48711069-48711070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs546831149	chr11:48711073-48711074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs191994839	chr11:48711116-48711117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs538974470	chr11:48711137-48711138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs1827974	chr11:48711150-48711151	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs568733632	chr11:48711178-48711179	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs147449452	chr11:48711218-48711219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs554328515	chr11:48711242-48711243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs532057648	chr11:48711301-48711302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs182619214	chr11:48711335-48711336	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs201119414	chr11:48711341-48711342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs548477650	chr11:48711350-48711351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs377552503	chr11:48711351-48711352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs35214972	chr11:48711428-48711429	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs546084493	chr11:48711439-48711440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs562790825	chr11:48711494-48711495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs142826183	chr11:48711503-48711504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs151009933	chr11:48711512-48711513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs561216336	chr11:48711513-48711514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs530259597	chr11:48711516-48711517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs112491826	chr11:48711522-48711523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs534240609	chr11:48711525-48711526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs139662339	chr11:48711558-48711559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs534461186	chr11:48711563-48711564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs187782324	chr11:48711576-48711577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs370771650	chr11:48711585-48711586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs192900973	chr11:48711587-48711588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs537434329	chr11:48711594-48711595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs184118992	chr11:48711595-48711596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs2865316	chr11:48711619-48711620	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs187301885	chr11:48711634-48711635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs191935468	chr11:48711661-48711662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs570631425	chr11:48711675-48711676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs539645554	chr11:48711681-48711682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs74488105	chr11:48711775-48711776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs149708975	chr11:48711780-48711781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs1121000	chr11:48711790-48711791	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs554976448	chr11:48711821-48711822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs184363448	chr11:48711830-48711831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs556549818	chr11:48711854-48711855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs575434011	chr11:48711867-48711868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs8189397	chr11:48711870-48711871	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs554465621	chr11:48711875-48711876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs190435522	chr11:48711884-48711885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs539900372	chr11:48711910-48711911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs374572421	chr11:48711913-48711914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs1121001	chr11:48711925-48711926	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs182317562	chr11:48711976-48711977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Medulloblastoma	21163964	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Intellectual disability	22045946	CNVD

Chromatin state (count:240 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48711000-48712200	ZNF genes & repeats	Liver	Liver
2	chr11:48717600-48718400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
3	chr11:48718000-48718200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
4	chr11:48718000-48718200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:48718000-48718200	ZNF genes & repeats	HUVEC	blood vessel
6	chr11:48718000-48718200	ZNF genes & repeats	NH-A	brain
7	chr11:48718000-48718400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr11:48718000-48718400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr11:48718000-48718600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr11:48718000-48719000	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr11:48718200-48718400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
12	chr11:48728000-48728800	ZNF genes & repeats	Liver	Liver
13	chr11:48728400-48728800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr11:48731000-48732600	ZNF genes & repeats	Liver	Liver
15	chr11:48731400-48733000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr11:48731400-48735600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:48732600-48733400	Weak transcription	Liver	Liver
18	chr11:48733200-48734600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr11:48733200-48735800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr11:48733400-48734200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
21	chr11:48733400-48734200	ZNF genes & repeats	Liver	Liver
22	chr11:48733400-48734400	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr11:48733800-48734200	Active TSS	Right Atrium	heart
24	chr11:48734200-48738400	Weak transcription	Right Atrium	heart
25	chr11:48736600-48742600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:48738000-48739600	ZNF genes & repeats	Adipose Nuclei	Adipose
27	chr11:48738400-48739200	Active TSS	Right Atrium	heart
28	chr11:48738800-48742000	ZNF genes & repeats	Liver	Liver
29	chr11:48741200-48742400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:48743800-48744600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr11:48744200-48744800	ZNF genes & repeats	Liver	Liver
32	chr11:48750800-48751400	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr11:48762000-48763800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
34	chr11:48762600-48764200	ZNF genes & repeats	Liver	Liver
35	chr11:48763000-48763600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:48763000-48765600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr11:48763200-48763400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
38	chr11:48763200-48763600	Active TSS	Aorta	Aorta
39	chr11:48763200-48763600	ZNF genes & repeats	Brain Anterior Caudate	brain
40	chr11:48763200-48763600	ZNF genes & repeats	Brain Hippocampus Middle	brain
41	chr11:48763200-48763600	ZNF genes & repeats	Brain Substantia Nigra	brain
42	chr11:48763200-48766200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:48763200-48766200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
44	chr11:48771800-48772200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:48774600-48774800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:48774800-48776400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:48775400-48776000	Active TSS	Aorta	Aorta
48	chr11:48775800-48776600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:48776400-48776600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:48777400-48780800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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