Variant report

Variant	nsv554663
Chromosome Location	chr11:54813241-54860225
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:54832434..54832937-chr2:88315431..88316142,3	HCT-116	colon:
2	chr11:54831915..54832416-chr2:88315509..88316126,2	Hela-S3	cervix:
3	chr11:54832434..54833936-chr2:88314570..88316990,4	MCF-7	breast:
4	chr11:54832435..54833937-chr2:88314124..88316426,4	K562	blood:
5	chr11:54831916..54832937-chr2:88315370..88316082,4	MCF-7	breast:
6	chr11:54832434..54832936-chr2:88315651..88316162,2	Hela-S3	cervix:
7	chr11:54830914..54832417-chr2:88315417..88317014,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222724	chromatin interactions

Extended variants
information (count: 2634 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:2634 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28784714	chr11:54813241-54813242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs141726409	chr11:54813252-54813253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs150047542	chr11:54813268-54813269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs567692048	chr11:54813328-54813329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs550279664	chr11:54813329-54813330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs538242144	chr11:54813348-54813349	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs145401734	chr11:54813349-54813350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs571724193	chr11:54813371-54813372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs538730207	chr11:54813377-54813378	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs554360281	chr11:54813468-54813469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs116645651	chr11:54813490-54813491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs375530958	chr11:54813492-54813493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs570027031	chr11:54813496-54813497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs183595518	chr11:54813504-54813505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs573340152	chr11:54813505-54813506	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs114274960	chr11:54813563-54813564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs562300819	chr11:54813564-54813565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs149220777	chr11:54813584-54813585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs544747185	chr11:54813585-54813586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs370412747	chr11:54813589-54813590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs111904313	chr11:54813608-54813609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs113106401	chr11:54813646-54813647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs368332957	chr11:54813653-54813654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs73474033	chr11:54813698-54813699	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs78862044	chr11:54813732-54813733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs28804080	chr11:54813743-54813744	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs28805394	chr11:54813776-54813777	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs28818261	chr11:54813788-54813789	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs28816729	chr11:54813807-54813808	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs369308411	chr11:54813818-54813819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs539157582	chr11:54813825-54813826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs577202160	chr11:54813841-54813842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs28846177	chr11:54813850-54813851	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs372169019	chr11:54813851-54813852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs565977395	chr11:54813858-54813859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs556938186	chr11:54813859-54813860	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs554701092	chr11:54813865-54813866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs545874742	chr11:54813887-54813888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs201224873	chr11:54813904-54813905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs386753599	chr11:54813905-54813906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs1608418	chr11:54813907-54813908	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs556142477	chr11:54813916-54813917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs146428141	chr11:54813938-54813939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs192398011	chr11:54813981-54813982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs112818351	chr11:54813984-54813985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs572311216	chr11:54814046-54814047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs542853905	chr11:54814081-54814082	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs562042375	chr11:54814100-54814101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs184842211	chr11:54814114-54814115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs75691607	chr11:54814139-54814140	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:54812000-54814400	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr11:54812000-54825400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:54812200-54825000	ZNF genes & repeats	Liver	Liver
4	chr11:54814000-54814400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:54814000-54816200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr11:54814400-54815600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr11:54817000-54817400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:54818400-54821200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr11:54819400-54820000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr11:54819400-54820000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr11:54820600-54822400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:54821000-54823800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
13	chr11:54821200-54823200	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr11:54821400-54822400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr11:54827600-54832400	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr11:54828400-54833800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:54829000-54830400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr11:54831000-54841800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr11:54832200-54832600	Active TSS	Brain Substantia Nigra	brain
20	chr11:54832600-54833400	Weak transcription	Brain Substantia Nigra	brain
21	chr11:54833000-54834200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr11:54833400-54833800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:54833400-54833800	ZNF genes & repeats	Brain Substantia Nigra	brain
24	chr11:54833400-54833800	ZNF genes & repeats	HUVEC	blood vessel
25	chr11:54833400-54833800	ZNF genes & repeats	NH-A	brain
26	chr11:54833400-54833800	ZNF genes & repeats	Osteobl	bone
27	chr11:54833600-54833800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
28	chr11:54833600-54834000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
29	chr11:54835000-54835400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:54836200-54837600	ZNF genes & repeats	Liver	Liver
31	chr11:54836600-54837200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:54838800-54839200	Active TSS	Aorta	Aorta
33	chr11:54839000-54844200	ZNF genes & repeats	Liver	Liver
34	chr11:54839600-54843400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:54840000-54843600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
36	chr11:54840200-54842400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
37	chr11:54841400-54844200	ZNF genes & repeats	Adipose Nuclei	Adipose
38	chr11:54844400-54847800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
39	chr11:54844800-54851800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:54846600-54848200	ZNF genes & repeats	Adipose Nuclei	Adipose
41	chr11:54859000-54860000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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