Variant report

Variant	nsv982924
Chromosome Location	chr11:15252272-15253814
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	STAT3	chr11:15252284-15252347	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
INSC	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78148467	chr11:15252304-15252305	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs557379208	chr11:15252325-15252326	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs553500027	chr11:15252348-15252349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571721600	chr11:15252358-15252359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539653605	chr11:15252402-15252403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377551338	chr11:15252404-15252405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1619444	chr11:15252432-15252433	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs1792543	chr11:15252444-15252445	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs537328660	chr11:15252508-15252509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144550721	chr11:15252566-15252567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573570247	chr11:15252582-15252583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111302690	chr11:15252673-15252674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148445373	chr11:15252698-15252699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112686155	chr11:15252736-15252737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577281086	chr11:15252813-15252814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545214111	chr11:15252822-15252823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181120497	chr11:15252836-15252837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563512975	chr11:15252863-15252864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531139324	chr11:15252867-15252868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1945621	chr11:15252895-15252896	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs150581930	chr11:15252911-15252912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1792542	chr11:15252958-15252959	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs551397932	chr11:15253016-15253017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114317128	chr11:15253048-15253049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562254236	chr11:15253060-15253061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139707259	chr11:15253144-15253145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539105434	chr11:15253146-15253147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551628438	chr11:15253147-15253148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144603481	chr11:15253187-15253188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186512140	chr11:15253205-15253206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191006211	chr11:15253292-15253293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147914112	chr11:15253308-15253309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534329046	chr11:15253335-15253336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552519526	chr11:15253403-15253404	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577342401	chr11:15253473-15253474	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7116602	chr11:15253482-15253483	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs563574791	chr11:15253484-15253485	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575785414	chr11:15253491-15253492	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542806361	chr11:15253494-15253495	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182384771	chr11:15253522-15253523	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111946236	chr11:15253536-15253537	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547036795	chr11:15253563-15253564	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1714340	chr11:15253573-15253574	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs532686556	chr11:15253587-15253588	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546648806	chr11:15253592-15253593	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551082854	chr11:15253661-15253662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569795006	chr11:15253682-15253683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537255850	chr11:15253695-15253696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145398258	chr11:15253697-15253698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77422444	chr11:15253712-15253713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
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
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Myelofibrosis	22110671	CNVD
Cancer	24489367	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Neuroblastoma	19435921	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:15234400-15272000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:15242000-15269000	Weak transcription	Pancreas	Pancrea
3	chr11:15245000-15271200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr11:15245400-15259600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:15246800-15254200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:15250600-15254800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:15250600-15261800	Weak transcription	Aorta	Aorta
8	chr11:15252200-15252600	Strong transcription	Fetal Stomach	stomach
9	chr11:15252200-15257000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:15252600-15255200	Weak transcription	Fetal Stomach	stomach
11	chr11:15253400-15253600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:15253600-15261800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:15253600-15263200	Weak transcription	Fetal Intestine Small	intestine

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