Variant report

Variant	nsv1054747
Chromosome Location	chr11:25671657-25727712
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:25689568..25691114-chr11:25691280..25694068,2	K562	blood:
2	chr11:25709860..25710784-chr18:64774033..64774666,2	MCF-7	breast:
3	chr11:25689568..25691114-chr11:25691280..25694068,2	K562	blood:
4	chr11:25619794..25621822-chr11:25698109..25699950,2	K562	blood:

Extended variants
information (count: 1680 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1680 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7950262	chr11:25671657-25671658	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528458432	chr11:25671672-25671673	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs538126958	chr11:25671674-25671675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs77522582	chr11:25671676-25671677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs546602634	chr11:25671715-25671716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs568173234	chr11:25671721-25671722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs181919247	chr11:25671739-25671740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs557127965	chr11:25671749-25671750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs186242597	chr11:25671753-25671754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs117125406	chr11:25671755-25671756	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs552124847	chr11:25671763-25671764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs571224550	chr11:25671781-25671782	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs141976332	chr11:25671790-25671791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs539731456	chr11:25671806-25671807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs36181108	chr11:25671809-25671810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs10592469	chr11:25671811-25671812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs61897062	chr11:25671818-25671819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs540988365	chr11:25671828-25671829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs61897063	chr11:25671837-25671838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs373761146	chr11:25671843-25671844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs114261523	chr11:25671845-25671846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs112131033	chr11:25671859-25671860	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs73433361	chr11:25671860-25671861	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs201845196	chr11:25671865-25671866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs200383475	chr11:25671866-25671867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs111210632	chr11:25671871-25671872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs376856543	chr11:25671873-25671874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs201865132	chr11:25671874-25671875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs202047370	chr11:25671877-25671878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs541994992	chr11:25671891-25671892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs371427259	chr11:25671898-25671899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs12361486	chr11:25671899-25671900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs114267092	chr11:25671905-25671906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs202104120	chr11:25671906-25671907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs62638914	chr11:25671909-25671910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs62638915	chr11:25671911-25671912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs72225375	chr11:25671915-25671916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs369419671	chr11:25671917-25671918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs189095075	chr11:25671919-25671920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs146612572	chr11:25671927-25671928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs201949581	chr11:25671930-25671931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs144526775	chr11:25671933-25671934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs12362936	chr11:25671934-25671935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs12364341	chr11:25671943-25671944	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs141235327	chr11:25671946-25671947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs12801940	chr11:25671947-25671948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs564371373	chr11:25671948-25671949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs12361468	chr11:25671954-25671955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs12362943	chr11:25671962-25671963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs12801586	chr11:25671963-25671964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	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
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25671200-25672000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:25675000-25677800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:25677400-25678000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:25677800-25678000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:25678000-25685800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:25680400-25681200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr11:25680600-25681000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:25681400-25681800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr11:25685800-25686000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:25686000-25691600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:25688000-25688600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:25688600-25689800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:25689800-25690000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:25690000-25691200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:25690200-25690600	Enhancers	Ovary	ovary
16	chr11:25691600-25691800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:25697400-25698000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:25698000-25698800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:25698800-25702200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:25702200-25703600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:25702800-25703600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr11:25703000-25703400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr11:25703600-25716200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:25705200-25705600	Enhancers	Fetal Brain Male	brain
25	chr11:25713000-25713400	Enhancers	Brain Germinal Matrix	brain
26	chr11:25716200-25718200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:25718200-25718800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr11:25718400-25718800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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