Variant report

Variant	esv3400871
Chromosome Location	chr11:63199376-63204874
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 248 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:248 , 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	rs558613129	chr11:63199434-63199435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571995362	chr11:63199482-63199483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370610542	chr11:63199515-63199516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534592576	chr11:63199517-63199518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554108225	chr11:63199541-63199542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533009529	chr11:63199559-63199560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574812737	chr11:63199599-63199600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543658585	chr11:63199616-63199617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563546319	chr11:63199626-63199627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577357969	chr11:63199635-63199636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374653991	chr11:63199658-63199659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367847108	chr11:63199667-63199668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559775274	chr11:63199672-63199673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375842093	chr11:63199675-63199676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528509419	chr11:63199689-63199690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146957889	chr11:63199709-63199710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562035615	chr11:63199726-63199727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530019032	chr11:63199760-63199761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550059486	chr11:63199784-63199785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371604386	chr11:63199788-63199789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199829582	chr11:63199790-63199791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189277629	chr11:63199793-63199794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549629116	chr11:63199826-63199827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538826953	chr11:63199828-63199829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552016031	chr11:63199849-63199850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565754307	chr11:63199853-63199854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200966927	chr11:63199860-63199861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554145240	chr11:63199871-63199872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs137968457	chr11:63199872-63199873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537386895	chr11:63199945-63199946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141650091	chr11:63200013-63200014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563422963	chr11:63200023-63200024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577394360	chr11:63200030-63200031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528852089	chr11:63200041-63200042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181320080	chr11:63200080-63200081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573309857	chr11:63200089-63200090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6591801	chr11:63200125-63200126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs562074901	chr11:63200154-63200155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530919694	chr11:63200164-63200165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543789273	chr11:63200173-63200174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563579562	chr11:63200177-63200178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190068160	chr11:63200190-63200191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552368862	chr11:63200212-63200213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565688365	chr11:63200214-63200215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528179691	chr11:63200222-63200223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547869195	chr11:63200230-63200231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567763458	chr11:63200243-63200244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536628080	chr11:63200271-63200272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181520876	chr11:63200311-63200312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527990167	chr11:63200318-63200319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20409316	CNVD
Spinal muscular atrophy	17160897	CNVD
Retinitis pigmentosa	17160897	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63198400-63203000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:63202400-63202600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
3	chr11:63202600-63203600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:63202800-63203600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr11:63203000-63203600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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