Variant report

Variant	esv15364
Chromosome Location	chr11:4819668-4820635
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:4820319-4820345	GM10248	blood:	n/a	n/a
2	SETDB1	chr11:4820261-4820581	U2OS	brain:	n/a	n/a
3	SPI1	chr11:4819732-4819996	GM12891	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:4820112-4824892..11:5018576-5020673	H1-hESC	embryonic stem cell:	embryo
2	chr11:4817686..4819750-chr11:4821906..4823690,2	K562	blood:
3	11:4820112-4824892..11:5700314-5707362	K562	blood:
4	11:4801044-4820112..11:5700314-5707362	H1-hESC	embryonic stem cell:	embryo
5	11:4820112-4824892..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo
6	11:4820112-4824892..11:5527719-5533869	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
OR52Y1P	TF binding region
ENSG00000175520	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000132274	chromatin interactions
ENSG00000176798	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1433905	chr11:4819691-4819692	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529943126	chr11:4819756-4819757	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs542035724	chr11:4819757-4819758	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs190342643	chr11:4819775-4819776	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs1433904	chr11:4819790-4819791	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550250779	chr11:4819794-4819795	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs1433903	chr11:4819797-4819798	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs141162446	chr11:4819817-4819818	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs547808153	chr11:4819872-4819873	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs552858026	chr11:4819888-4819889	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs544222835	chr11:4819901-4819902	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs372361875	chr11:4819905-4819906	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs11033914	chr11:4819907-4819908	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs555162723	chr11:4819925-4819926	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs182788244	chr11:4819951-4819952	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs536755284	chr11:4820003-4820004	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs11033918	chr11:4820009-4820010	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs150291558	chr11:4820133-4820134	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs187549283	chr11:4820146-4820147	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs192799138	chr11:4820168-4820169	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs73401083	chr11:4820198-4820199	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs561635918	chr11:4820199-4820200	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs541730045	chr11:4820204-4820205	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs563499975	chr11:4820237-4820238	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs530577962	chr11:4820246-4820247	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs5005346	chr11:4820282-4820283	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs565424790	chr11:4820290-4820291	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs369010147	chr11:4820304-4820305	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs144973679	chr11:4820305-4820306	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs5005347	chr11:4820322-4820323	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1433902	chr11:4820353-4820354	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs548553973	chr11:4820383-4820384	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs149057084	chr11:4820385-4820386	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs377615550	chr11:4820395-4820396	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs5005348	chr11:4820410-4820411	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562612001	chr11:4820426-4820427	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs5005349	chr11:4820449-4820450	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs185546535	chr11:4820452-4820453	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs36098183	chr11:4820471-4820472	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs551999038	chr11:4820476-4820477	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs370483403	chr11:4820477-4820478	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs5005350	chr11:4820481-4820482	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs72868749	chr11:4820495-4820496	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs72868750	chr11:4820496-4820497	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs117124110	chr11:4820533-4820534	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs575489345	chr11:4820547-4820548	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs73401089	chr11:4820552-4820553	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs189088760	chr11:4820582-4820583	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs537508764	chr11:4820599-4820600	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs577428859	chr11:4820600-4820601	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
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
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4816200-4820200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:4817400-4821200	Weak transcription	Gastric	stomach
3	chr11:4820200-4820400	Enhancers	Stomach Mucosa	stomach
4	chr11:4820200-4821000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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