Variant report

Variant	nsv38731
Chromosome Location	chr11:45993457-45998686
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:45995292-45995399	K562	blood:	n/a	chr11:45995334-45995355 chr11:45995333-45995349 chr11:45995337-45995347
2	CTCF	chr11:45995240-45995390	HCM	heart:	n/a	chr11:45995334-45995355 chr11:45995333-45995349 chr11:45995337-45995347
3	IRF1	chr11:45995157-45995204	K562	blood:	n/a	n/a
4	MAFF	chr11:45995138-45995634	HepG2	liver:	n/a	chr11:45995493-45995511
5	MAFK	chr11:45995193-45995598	HepG2	liver:	n/a	chr11:45995470-45995484 chr11:45995512-45995523 chr11:45995230-45995246
6	MAFK	chr11:45995091-45995616	HepG2	liver:	n/a	chr11:45995470-45995484 chr11:45995512-45995523 chr11:45995230-45995246
7	MAFK	chr11:45995133-45995590	IMR90	lung:	n/a	chr11:45995470-45995484 chr11:45995512-45995523 chr11:45995230-45995246
8	MYC	chr11:45996615-45996741	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:45996642-45996667	A549	lung:	n/a	n/a
10	POLR2A	chr11:45996791-45996805	Gliobla	brain:	n/a	n/a
11	POLR2A	chr11:45997545-45997917	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:45996748-45996792	A549	lung:	n/a	n/a
13	RAD21	chr11:45995210-45995438	H1-hESC	embryonic stem cell:	n/a	chr11:45995333-45995352
14	TCF12	chr11:45996363-45996900	SK-N-SH	brain:	n/a	n/a
15	TCF12	chr11:45996212-45996763	SK-N-SH	brain:	n/a	n/a
16	ZNF384	chr11:45993345-45993536	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:45994869..45996498-chr11:46000981..46003078,2	K562	blood:
2	chr11:45899726..45902315-chr11:45996941..45999150,2	MCF-7	breast:
3	chr11:45997750..46001916-chr11:46003160..46008009,7	K562	blood:

Variant related genes	Relation type
PHF21A	TF binding region

Extended variants
information (count: 189 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12798484	chr11:45993461-45993462	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs557047410	chr11:45993509-45993510	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs144727394	chr11:45993510-45993511	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs561817862	chr11:45993524-45993525	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs530565120	chr11:45993531-45993532	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs527611410	chr11:45993577-45993578	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182969112	chr11:45993609-45993610	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs36094505	chr11:45993651-45993652	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114582398	chr11:45993662-45993663	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545360091	chr11:45993685-45993686	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565068276	chr11:45993691-45993692	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187867466	chr11:45993693-45993694	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71491886	chr11:45993696-45993697	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192160990	chr11:45993717-45993718	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184757143	chr11:45993726-45993727	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147918963	chr11:45993745-45993746	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546590734	chr11:45993753-45993754	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187626192	chr11:45993808-45993809	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549853316	chr11:45993810-45993811	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141740169	chr11:45993894-45993895	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552499264	chr11:45993995-45993996	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569330635	chr11:45994012-45994013	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145712083	chr11:45994054-45994055	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556749336	chr11:45994078-45994079	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567379035	chr11:45994107-45994108	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536209573	chr11:45994108-45994109	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548682448	chr11:45994158-45994159	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552993395	chr11:45994211-45994212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572920106	chr11:45994230-45994231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545300091	chr11:45994263-45994264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558922647	chr11:45994266-45994267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373761230	chr11:45994281-45994282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370877031	chr11:45994315-45994316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373915657	chr11:45994320-45994321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544417743	chr11:45994390-45994391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561177488	chr11:45994393-45994394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1973721	chr11:45994419-45994420	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs540368399	chr11:45994441-45994442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536025138	chr11:45994522-45994523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560113058	chr11:45994528-45994529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532399102	chr11:45994532-45994533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554145714	chr11:45994539-45994540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140955136	chr11:45994558-45994559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569551924	chr11:45994577-45994578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531787324	chr11:45994597-45994598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10838537	chr11:45994635-45994636	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs138827729	chr11:45994662-45994663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78361352	chr11:45994751-45994752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546743760	chr11:45994788-45994789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566456990	chr11:45994792-45994793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	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
Prostate cancer	18632612	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:224 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45952400-45996200	Weak transcription	Stomach Mucosa	stomach
2	chr11:45957200-46004400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:45957200-46004400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:45967600-46004600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:45975200-45999200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr11:45980200-45995600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:45981400-45995000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:45982200-46002200	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:45983000-45994000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:45983000-46002200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:45983200-45993600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:45983200-45993600	Strong transcription	Thymus	Thymus
13	chr11:45984000-45995000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr11:45985000-46002200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr11:45985200-45993800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr11:45985200-45994000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:45985400-46002600	Strong transcription	Primary B cells from cord blood	blood
18	chr11:45985600-45993800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:45985800-45997800	Strong transcription	Primary T cells from cord blood	blood
20	chr11:45985800-46003800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:45987000-45993800	Strong transcription	Liver	Liver
22	chr11:45987000-46004000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:45987200-46000800	Weak transcription	NHEK	skin
24	chr11:45987600-46004600	Weak transcription	Gastric	stomach
25	chr11:45988400-46004400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:45989400-45994800	Weak transcription	Fetal Heart	heart
27	chr11:45989400-46000000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:45989800-46000000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr11:45990000-46000000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:45990200-45995800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:45990400-46000600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:45990400-46001600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:45990800-46000000	Weak transcription	NH-A	brain
34	chr11:45991000-46004400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr11:45991000-46004400	Weak transcription	A549	lung
36	chr11:45991200-45995400	Strong transcription	K562	blood
37	chr11:45991400-45995600	Weak transcription	Colonic Mucosa	Colon
38	chr11:45991400-45997600	Weak transcription	Fetal Intestine Small	intestine
39	chr11:45991800-46003600	Weak transcription	Brain Germinal Matrix	brain
40	chr11:45992200-46004400	Weak transcription	HMEC	breast
41	chr11:45992400-45993600	Strong transcription	Small Intestine	intestine
42	chr11:45992400-45994200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:45992400-45996200	Weak transcription	NHDF-Ad	bronchial
44	chr11:45992600-46000000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr11:45992600-46003600	Weak transcription	Fetal Brain Male	brain
46	chr11:45992800-45994800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:45992800-45996400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:45992800-45997200	Weak transcription	HSMMtube	muscle
49	chr11:45992800-45997400	Weak transcription	Hela-S3	cervix
50	chr11:45992800-45998400	Weak transcription	GM12878-XiMat	blood

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