Variant report

Variant	nsv897371
Chromosome Location	chr11:48712685-48889126
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 13125 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:13125 , 50 per page) page: 1 2 3 4 5 6 7 ... 263

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192999872	chr11:48717626-48717627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs1827969	chr11:48717645-48717646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs368123864	chr11:48717654-48717655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs79801531	chr11:48717677-48717678	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs76707303	chr11:48717678-48717679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs76478156	chr11:48717680-48717681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs77828177	chr11:48717683-48717684	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs80019443	chr11:48717685-48717686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs75384147	chr11:48717686-48717687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs78630046	chr11:48717687-48717688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs539644369	chr11:48717688-48717689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs79610641	chr11:48717690-48717691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs549740069	chr11:48717695-48717696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs76579739	chr11:48717697-48717698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs78789048	chr11:48717700-48717701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs199694187	chr11:48717738-48717739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs71481411	chr11:48717744-48717745	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs544925602	chr11:48717748-48717749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs1827970	chr11:48717749-48717750	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533161237	chr11:48717756-48717757	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs185124395	chr11:48717771-48717772	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs147955419	chr11:48717794-48717795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs555400141	chr11:48717796-48717797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs549514816	chr11:48717799-48717800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs566248424	chr11:48717815-48717816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs141869817	chr11:48717856-48717857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs11499897	chr11:48717866-48717867	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs79031285	chr11:48717938-48717939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs578088569	chr11:48717949-48717950	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs189062713	chr11:48717976-48717977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs573319550	chr11:48717981-48717982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs576245366	chr11:48718007-48718008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs80032381	chr11:48718027-48718028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs145365924	chr11:48718037-48718038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs12789967	chr11:48718050-48718051	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs545225962	chr11:48718055-48718056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs75948348	chr11:48718059-48718060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs181807420	chr11:48718090-48718091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs575521798	chr11:48718138-48718139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs371034277	chr11:48718141-48718142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs75467061	chr11:48718144-48718145	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs76584302	chr11:48718154-48718155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs79305264	chr11:48718160-48718161	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs75031667	chr11:48718179-48718180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs78351616	chr11:48718180-48718181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs186140618	chr11:48718188-48718189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs1987586	chr11:48718209-48718210	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs143281624	chr11:48718219-48718220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs549457942	chr11:48718228-48718229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs559838167	chr11:48718253-48718254	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
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
Breast cancer	22522925	CNVD

Chromatin state (count:553 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48717600-48718400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
2	chr11:48718000-48718200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
3	chr11:48718000-48718200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:48718000-48718200	ZNF genes & repeats	HUVEC	blood vessel
5	chr11:48718000-48718200	ZNF genes & repeats	NH-A	brain
6	chr11:48718000-48718400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr11:48718000-48718400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr11:48718000-48718600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
9	chr11:48718000-48719000	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr11:48718200-48718400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
11	chr11:48728000-48728800	ZNF genes & repeats	Liver	Liver
12	chr11:48728400-48728800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
13	chr11:48731000-48732600	ZNF genes & repeats	Liver	Liver
14	chr11:48731400-48733000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr11:48731400-48735600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:48732600-48733400	Weak transcription	Liver	Liver
17	chr11:48733200-48734600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr11:48733200-48735800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
19	chr11:48733400-48734200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
20	chr11:48733400-48734200	ZNF genes & repeats	Liver	Liver
21	chr11:48733400-48734400	ZNF genes & repeats	Adipose Nuclei	Adipose
22	chr11:48733800-48734200	Active TSS	Right Atrium	heart
23	chr11:48734200-48738400	Weak transcription	Right Atrium	heart
24	chr11:48736600-48742600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:48738000-48739600	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr11:48738400-48739200	Active TSS	Right Atrium	heart
27	chr11:48738800-48742000	ZNF genes & repeats	Liver	Liver
28	chr11:48741200-48742400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:48743800-48744600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
30	chr11:48744200-48744800	ZNF genes & repeats	Liver	Liver
31	chr11:48750800-48751400	ZNF genes & repeats	Adipose Nuclei	Adipose
32	chr11:48762000-48763800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
33	chr11:48762600-48764200	ZNF genes & repeats	Liver	Liver
34	chr11:48763000-48763600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:48763000-48765600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
36	chr11:48763200-48763400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
37	chr11:48763200-48763600	Active TSS	Aorta	Aorta
38	chr11:48763200-48763600	ZNF genes & repeats	Brain Anterior Caudate	brain
39	chr11:48763200-48763600	ZNF genes & repeats	Brain Hippocampus Middle	brain
40	chr11:48763200-48763600	ZNF genes & repeats	Brain Substantia Nigra	brain
41	chr11:48763200-48766200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:48763200-48766200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
43	chr11:48771800-48772200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:48774600-48774800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:48774800-48776400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:48775400-48776000	Active TSS	Aorta	Aorta
47	chr11:48775800-48776600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:48776400-48776600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:48777400-48780800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr11:48778200-48781800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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