Variant report

Variant	nsv553828
Chromosome Location	chr11:24969228-25061347
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:25033492..25034324-chr14:24994179..24994819,2	MCF-7	breast:
2	chr11:24996714..24999047-chr11:25009138..25011539,2	K562	blood:
3	chr11:24996714..24999047-chr11:25009138..25011539,2	K562	blood:
4	chr11:24963255..24966039-chr11:24972736..24975455,2	MCF-7	breast:

Extended variants
information (count: 537 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:537 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10767279	chr11:24974037-24974038	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115948169	chr11:24974137-24974138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191415874	chr11:24974155-24974156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184510774	chr11:24974158-24974159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539459157	chr11:24974222-24974223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75520188	chr11:24974229-24974230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189493164	chr11:24974286-24974287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538431691	chr11:24974307-24974308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181921478	chr11:24974313-24974314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369514587	chr11:24974340-24974341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11028294	chr11:24974346-24974347	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs540296295	chr11:24974395-24974396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200078648	chr11:24974409-24974410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185770502	chr11:24974456-24974457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553871603	chr11:24974476-24974477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112284851	chr11:24974509-24974510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373230448	chr11:24974539-24974540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111347532	chr11:24974541-24974542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538814531	chr11:24974571-24974572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545801286	chr11:24974576-24974577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575245493	chr11:24974584-24974585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188796801	chr11:24974591-24974592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531553190	chr11:24974596-24974597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149163460	chr11:24974601-24974602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10742058	chr11:24974642-24974643	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs202232648	chr11:24974730-24974731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527495764	chr11:24974738-24974739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11028295	chr11:24974771-24974772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547483977	chr11:24974807-24974808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570563059	chr11:24974827-24974828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532950158	chr11:24974882-24974883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558403565	chr11:24974918-24974919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115341166	chr11:24974959-24974960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142636342	chr11:24974967-24974968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10767280	chr11:24975014-24975015	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs181645117	chr11:24975015-24975016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150978996	chr11:24975034-24975035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568534445	chr11:24975043-24975044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12574126	chr11:24975045-24975046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534128913	chr11:24975101-24975102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373358622	chr11:24975102-24975103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553810311	chr11:24975115-24975116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576964098	chr11:24975196-24975197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539444104	chr11:24975274-24975275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140982062	chr11:24975286-24975287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576269313	chr11:24975316-24975317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10767281	chr11:24975387-24975388	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs112759686	chr11:24978050-24978051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111788524	chr11:24978116-24978117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536851055	chr11:24978122-24978123	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24974000-24975400	Enhancers	Brain Germinal Matrix	brain
2	chr11:24978000-24978400	Enhancers	HUVEC	blood vessel
3	chr11:24985600-24985800	Enhancers	Hela-S3	cervix
4	chr11:24986200-24987200	Weak transcription	Hela-S3	cervix
5	chr11:24987200-24987800	Enhancers	Hela-S3	cervix
6	chr11:24987400-24987800	Enhancers	Dnd41	blood
7	chr11:24990200-24990800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr11:24990800-24991800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:24991800-24992000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr11:25001600-25002800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr11:25001600-25003200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr11:25001600-25003200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr11:25002000-25002800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr11:25002200-25002800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr11:25002200-25002800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:25002200-25003000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr11:25002200-25003000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr11:25002400-25002800	Enhancers	H9 Cell Line	embryonic stem cell
19	chr11:25002400-25003400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr11:25002800-25004400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:25002800-25004400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr11:25002800-25004600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:25003000-25004400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:25003200-25004600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr11:25003200-25004600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:25003400-25003800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:25003800-25004000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr11:25004000-25004800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:25004400-25005600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr11:25004400-25006000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr11:25004400-25006000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr11:25004600-25005200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr11:25004600-25006000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr11:25004600-25006000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr11:25004800-25005600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr11:25006400-25007200	Enhancers	Fetal Kidney	kidney
37	chr11:25009000-25009400	Enhancers	Fetal Intestine Large	intestine
38	chr11:25029600-25030000	ZNF genes & repeats	Pancreas	Pancrea
39	chr11:25044600-25044800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr11:25058600-25060800	Enhancers	Fetal Heart	heart

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