Variant report

Variant	esv3335379
Chromosome Location	chr11:17573671-17574618
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:17574078-17574211	GM19239	blood:	n/a	n/a
2	POLR2A	chr11:17574110-17574157	Gliobla	brain:	n/a	n/a
3	RCOR1	chr11:17573949-17573975	GM12878	blood:	n/a	n/a
4	SRF	chr11:17574007-17574178	GM12878	blood:	n/a	n/a
5	TCF7L2	chr11:17574412-17574475	Hela-S3	cervix:	n/a	chr11:17574449-17574458 chr11:17574445-17574461 chr11:17574448-17574457 chr11:17574447-17574457 chr11:17574445-17574461
6	ZEB1	chr11:17573974-17574290	GM12878	blood:	n/a	chr11:17574095-17574104 chr11:17574017-17574026 chr11:17574077-17574086
7	ZEB1	chr11:17573847-17574262	GM12878	blood:	n/a	chr11:17574095-17574104 chr11:17574017-17574026 chr11:17574077-17574086

No.	Distal block	Cell Line	Cell type
1	chr11:17573695..17575515-chr11:17575864..17578594,2	K562	blood:
2	chr11:17573988..17575798-chr11:17578729..17580759,2	K562	blood:
3	chr11:17564338..17566127-chr11:17572702..17576571,3	K562	blood:

Variant related genes	Relation type
OTOG	TF binding region
ENSG00000006611	chromatin interactions
ENSG00000188162	chromatin interactions

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

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565201770	chr11:17573685-17573686	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs572548832	chr11:17573690-17573691	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201963805	chr11:17573711-17573712	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs367687037	chr11:17573728-17573729	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs558122870	chr11:17573729-17573730	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs182706503	chr11:17573735-17573736	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs78554283	chr11:17573749-17573750	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs562165111	chr11:17573757-17573758	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs146363888	chr11:17573769-17573770	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs371264035	chr11:17573776-17573777	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs541207519	chr11:17573777-17573778	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs7929777	chr11:17573787-17573788	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs532857104	chr11:17573801-17573802	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs551102151	chr11:17573815-17573816	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs563250050	chr11:17573831-17573832	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs530736765	chr11:17573844-17573845	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs7951242	chr11:17573927-17573928	Enhancers Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs567433879	chr11:17573928-17573929	Enhancers Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs371546947	chr11:17573947-17573948	Enhancers Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs141700521	chr11:17574067-17574068	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs4989391	chr11:17574096-17574097	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs112855992	chr11:17574098-17574099	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs112272785	chr11:17574106-17574107	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs4989390	chr11:17574114-17574115	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs202123881	chr11:17574116-17574117	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs375020888	chr11:17574119-17574120	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs370582567	chr11:17574124-17574125	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs4989389	chr11:17574132-17574133	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs534841118	chr11:17574149-17574150	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs190364536	chr11:17574150-17574151	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs4992516	chr11:17574152-17574153	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs187273225	chr11:17574192-17574193	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs143250323	chr11:17574211-17574212	Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs373931594	chr11:17574228-17574229	Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs548696554	chr11:17574233-17574234	Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs146684686	chr11:17574249-17574250	Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs376699784	chr11:17574250-17574251	Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs117949291	chr11:17574254-17574255	Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs556058663	chr11:17574282-17574283	Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs573993549	chr11:17574285-17574286	Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs541271447	chr11:17574304-17574305	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs77289919	chr11:17574372-17574373	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs577322198	chr11:17574409-17574410	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs545060569	chr11:17574441-17574442	Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs192129505	chr11:17574469-17574470	Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs530562997	chr11:17574479-17574480	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs548678678	chr11:17574483-17574484	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs561211950	chr11:17574490-17574491	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs368894619	chr11:17574497-17574498	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs528384914	chr11:17574501-17574502	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	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	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17569200-17576600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:17569600-17574000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:17572400-17574000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:17573200-17573800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:17573400-17574400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:17573400-17574600	Active TSS	Spleen	Spleen
7	chr11:17574000-17574200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:17574000-17579800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:17574400-17596200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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