Variant report

Variant	esv3474586
Chromosome Location	chr11:63195376-63201274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 344 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568416806	chr11:63195412-63195413	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs190610497	chr11:63195434-63195435	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs183377526	chr11:63195437-63195438	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs189231559	chr11:63195444-63195445	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs113922743	chr11:63195454-63195455	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs558714165	chr11:63195468-63195469	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs61928043	chr11:63195482-63195483	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs541088509	chr11:63195493-63195494	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs191962525	chr11:63195500-63195501	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs529550569	chr11:63195501-63195502	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs61928044	chr11:63195517-63195518	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs145632413	chr11:63195567-63195568	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs546939585	chr11:63195568-63195569	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs545969691	chr11:63195604-63195605	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs138503411	chr11:63195611-63195612	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs528597466	chr11:63195623-63195624	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs548619178	chr11:63195626-63195627	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs183872758	chr11:63195644-63195645	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs186820748	chr11:63195668-63195669	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs116420411	chr11:63195677-63195678	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs569943960	chr11:63195680-63195681	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs75047887	chr11:63195682-63195683	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs538871846	chr11:63195700-63195701	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs681291	chr11:63195732-63195733	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs552427847	chr11:63195741-63195742	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs143040857	chr11:63195747-63195748	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs114157990	chr11:63195754-63195755	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs559345638	chr11:63195762-63195763	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs191280682	chr11:63195765-63195766	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs569093681	chr11:63195793-63195794	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs536628150	chr11:63195822-63195823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557262897	chr11:63195860-63195861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73485888	chr11:63195870-63195871	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs546057754	chr11:63195874-63195875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184249699	chr11:63195892-63195893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573348384	chr11:63195953-63195954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531524922	chr11:63195957-63195958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138901876	chr11:63196007-63196008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562211024	chr11:63196015-63196016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112221600	chr11:63196028-63196029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550978651	chr11:63196034-63196035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568117250	chr11:63196168-63196169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111885868	chr11:63196170-63196171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533884098	chr11:63196243-63196244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187073612	chr11:63196266-63196267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193188665	chr11:63196271-63196272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112769025	chr11:63196279-63196280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185130133	chr11:63196291-63196292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536711112	chr11:63196292-63196293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556558753	chr11:63196315-63196316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63195400-63195800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr11:63195400-63195800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:63195400-63196200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr11:63195600-63195800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:63195600-63195800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr11:63195600-63195800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:63195600-63195800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:63195800-63198000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:63195800-63198000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:63195800-63198200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:63195800-63198200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:63198000-63198200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:63198000-63198400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:63198000-63198800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:63198200-63198400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr11:63198200-63198400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:63198400-63203000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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