Variant report

Variant	esv3470252
Chromosome Location	chr11:54951557-54983011
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	chr1:121484468..121485418-chr11:54954643..54955164,2	MCF-7	breast:

Extended variants
information (count: 1832 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:1832 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556586017	chr11:54951603-54951604	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562064535	chr11:54951606-54951607	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2612201	chr11:54951643-54951644	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545290505	chr11:54951645-54951646	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2612200	chr11:54951646-54951647	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs572958013	chr11:54951651-54951652	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12223675	chr11:54951653-54951654	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2571201	chr11:54951667-54951668	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11560930	chr11:54951674-54951675	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11534521	chr11:54951675-54951676	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187341193	chr11:54951679-54951680	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11560931	chr11:54951693-54951694	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561662911	chr11:54951695-54951696	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11534522	chr11:54951697-54951698	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528898444	chr11:54951706-54951707	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550810942	chr11:54951715-54951716	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562654503	chr11:54951716-54951717	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192967005	chr11:54951730-54951731	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs386753635	chr11:54951740-54951741	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77186172	chr11:54951752-54951753	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377087244	chr11:54951758-54951759	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80131762	chr11:54951759-54951760	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs386753636	chr11:54951768-54951769	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551265915	chr11:54951773-54951774	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184255843	chr11:54951777-54951778	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188028127	chr11:54951797-54951798	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373197011	chr11:54951815-54951816	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540584121	chr11:54951830-54951831	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376117124	chr11:54951845-54951846	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113762458	chr11:54951856-54951857	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567279238	chr11:54951873-54951874	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs3960720	chr11:54951874-54951875	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201102793	chr11:54951876-54951877	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202137542	chr11:54951884-54951885	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191710844	chr11:54951897-54951898	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181550575	chr11:54951912-54951913	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556783225	chr11:54951925-54951926	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201295029	chr11:54951947-54951948	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116659308	chr11:54951970-54951971	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202067803	chr11:54951977-54951978	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200371087	chr11:54951986-54951987	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192479853	chr11:54951998-54951999	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201745699	chr11:54952013-54952014	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111352223	chr11:54952014-54952015	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199535118	chr11:54952016-54952017	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377094419	chr11:54952020-54952021	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572722044	chr11:54952021-54952022	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540282929	chr11:54952022-54952023	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370147489	chr11:54952046-54952047	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111546829	chr11:54952068-54952069	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:54950800-54951800	Weak transcription	Right Atrium	heart
2	chr11:54950800-54965600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr11:54951000-54956200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr11:54953400-54963800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr11:54954400-54955200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
6	chr11:54956000-54965200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:54956200-54956400	Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr11:54956600-54965200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr11:54956800-54957800	ZNF genes & repeats	Liver	Liver
10	chr11:54958000-54959000	Active TSS	Right Atrium	heart
11	chr11:54960800-54961600	Weak transcription	NH-A	brain
12	chr11:54961400-54962000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
13	chr11:54961400-54962000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr11:54961400-54962000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
15	chr11:54961600-54961800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr11:54961600-54961800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:54961600-54961800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:54961600-54961800	ZNF genes & repeats	Gastric	stomach
19	chr11:54961600-54961800	Flanking Bivalent TSS/Enh	Hela-S3	cervix
20	chr11:54961600-54961800	ZNF genes & repeats	HMEC	breast
21	chr11:54961600-54961800	ZNF genes & repeats	NHLF	lung
22	chr11:54961600-54962000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:54961600-54962000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:54961600-54962000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:54961600-54962000	Active TSS	Aorta	Aorta
26	chr11:54961600-54962000	Active TSS	Fetal Heart	heart
27	chr11:54961600-54962000	ZNF genes & repeats	Left Ventricle	heart
28	chr11:54961600-54962000	Active TSS	A549	lung
29	chr11:54961600-54962000	Active TSS	HSMMtube	muscle
30	chr11:54961600-54962000	ZNF genes & repeats	HUVEC	blood vessel
31	chr11:54961600-54962000	ZNF genes & repeats	K562	blood
32	chr11:54961600-54962000	ZNF genes & repeats	NH-A	brain
33	chr11:54961600-54962000	ZNF genes & repeats	Osteobl	bone
34	chr11:54961600-54962200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
35	chr11:54961600-54962200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
36	chr11:54961800-54962000	ZNF genes & repeats	Dnd41	blood
37	chr11:54961800-54962000	Bivalent Enhancer	Hela-S3	cervix
38	chr11:54962000-54963400	Weak transcription	HUVEC	blood vessel
39	chr11:54962000-54963600	Weak transcription	NH-A	brain
40	chr11:54963400-54963800	ZNF genes & repeats	HUVEC	blood vessel
41	chr11:54963600-54963800	Active TSS	NH-A	brain
42	chr11:54970200-54973600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
43	chr11:54971600-54972600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
44	chr11:54972000-54972200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
45	chr11:54972000-54972200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:54972000-54972200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
47	chr11:54972000-54972200	ZNF genes & repeats	Brain Anterior Caudate	brain
48	chr11:54972000-54972200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
49	chr11:54972000-54972200	ZNF genes & repeats	Brain Substantia Nigra	brain
50	chr11:54972000-54972200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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