Variant report

Variant	nsv553829
Chromosome Location	chr11:25041755-25082823
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	chr11:22849480..22851377-chr11:25062549..25065391,2	K562	blood:

Variant related genes	Relation type
ENSG00000198168	chromatin interactions
ENSG00000246225	chromatin interactions

Extended variants
information (count: 499 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:499 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7929174	chr11:25044605-25044606	Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558969544	chr11:25044650-25044651	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs576034146	chr11:25044665-25044666	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs143172453	chr11:25044667-25044668	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs555242743	chr11:25044673-25044674	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs575093140	chr11:25044703-25044704	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs540319119	chr11:25044724-25044725	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs138535638	chr11:25044741-25044742	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs141486646	chr11:25044754-25044755	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs546214716	chr11:25044758-25044759	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs562423276	chr11:25044772-25044773	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs1584196	chr11:25058619-25058620	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs188670776	chr11:25058636-25058637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1584197	chr11:25058660-25058661	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs192583726	chr11:25058688-25058689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567077188	chr11:25058705-25058706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs80021051	chr11:25058709-25058710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139421364	chr11:25058711-25058712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575570756	chr11:25058741-25058742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575308515	chr11:25058804-25058805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182800724	chr11:25058807-25058808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145144073	chr11:25058808-25058809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574347055	chr11:25058820-25058821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147576935	chr11:25058876-25058877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79995178	chr11:25058881-25058882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12789313	chr11:25058937-25058938	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs10834586	chr11:25058954-25058955	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs562479922	chr11:25058961-25058962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557219437	chr11:25058968-25058969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142586149	chr11:25058984-25058985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12788430	chr11:25058989-25058990	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs59899970	chr11:25059073-25059074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530376427	chr11:25059131-25059132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146743477	chr11:25059149-25059150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186707707	chr11:25059152-25059153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs151334444	chr11:25059224-25059225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114730561	chr11:25059303-25059304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532621032	chr11:25059318-25059319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552622110	chr11:25059325-25059326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564823296	chr11:25059364-25059365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11028373	chr11:25059404-25059405	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs369875515	chr11:25059429-25059430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554504863	chr11:25059437-25059438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372392964	chr11:25059447-25059448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75046618	chr11:25059482-25059483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554314916	chr11:25059488-25059489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75751815	chr11:25059566-25059567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs895409	chr11:25059567-25059568	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs554626546	chr11:25059568-25059569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191610265	chr11:25059579-25059580	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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 cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25044600-25044800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr11:25058600-25060800	Enhancers	Fetal Heart	heart
3	chr11:25068600-25069400	Enhancers	Brain Germinal Matrix	brain
4	chr11:25069400-25069600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr11:25069400-25070000	Enhancers	Fetal Heart	heart
6	chr11:25069600-25070000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr11:25069600-25070600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:25069800-25071600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr11:25070000-25070400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:25070000-25072200	Weak transcription	Fetal Heart	heart
11	chr11:25070400-25071000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr11:25070600-25071000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr11:25070600-25071000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr11:25070600-25071200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr11:25070600-25071800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr11:25072200-25074000	Enhancers	Fetal Heart	heart
17	chr11:25079000-25079400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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