Variant report

Variant	nsv467757
Chromosome Location	chr11:24778961-24803061
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:24802835..24803539-chr11:25755478..25755981,2	MCF-7	breast:
2	chr11:24802681..24803507-chr11:25755699..25756641,3	MCF-7	breast:
3	chr11:24801274..24801786-chr11:25755056..25755745,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254456	chromatin interactions

Extended variants
information (count: 219 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2129354	chr11:24778961-24778962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376308555	chr11:24778985-24778986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143586829	chr11:24779023-24779024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112259719	chr11:24779105-24779106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574257733	chr11:24779114-24779115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571717635	chr11:24779143-24779144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539060206	chr11:24779181-24779182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537334578	chr11:24779249-24779250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557000754	chr11:24779301-24779302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372296147	chr11:24779334-24779335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2631413	chr11:24779345-24779346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs7123025	chr11:24779357-24779358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs572607458	chr11:24779462-24779463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577628593	chr11:24779510-24779511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74654074	chr11:24779516-24779517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564528597	chr11:24779533-24779534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11822911	chr11:24779566-24779567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs545217809	chr11:24779573-24779574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563447123	chr11:24779585-24779586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528791421	chr11:24779621-24779622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555542491	chr11:24779661-24779662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191159967	chr11:24779712-24779713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77915366	chr11:24779723-24779724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559753180	chr11:24779731-24779732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528596515	chr11:24779735-24779736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551947694	chr11:24779776-24779777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11028147	chr11:24779867-24779868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs34105960	chr11:24779870-24779871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542940240	chr11:24779871-24779872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191280791	chr11:24779872-24779873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550814914	chr11:24779873-24779874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs398040241	chr11:24779894-24779895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182368939	chr11:24779916-24779917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151139907	chr11:24779989-24779990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552888635	chr11:24780012-24780013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201292903	chr11:24780027-24780028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10834477	chr11:24780086-24780087	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs111937764	chr11:24780156-24780157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558260745	chr11:24780196-24780197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17307124	chr11:24780198-24780199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs187695384	chr11:24780288-24780289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565629852	chr11:24780293-24780294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557592775	chr11:24780298-24780299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539443213	chr11:24780306-24780307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76807762	chr11:24780311-24780312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34582607	chr11:24780348-24780349	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs193262693	chr11:24780373-24780374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528732630	chr11:24780381-24780382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377383506	chr11:24780415-24780416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372982899	chr11:24780431-24780432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24769000-24779000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:24777600-24781800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:24781800-24782000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr11:24782200-24783000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr11:24782800-24783200	Enhancers	Primary B cells from peripheral blood	blood
6	chr11:24788800-24789400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr11:24795000-24795400	Enhancers	Hela-S3	cervix
8	chr11:24803000-24804200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr11:24803000-24805600	Enhancers	HUES48 Cell Line	embryonic stem cell

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