Variant report

Variant	esv3488216
Chromosome Location	chr11:34727426-34729624
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	BHLHE40	chr11:34729133-34729279	K562	blood:	n/a	n/a
2	CTCF	chr11:34729080-34729230	GM12874	blood:	n/a	n/a
3	CTCF	chr11:34729240-34729390	HEEpiC	esophagus:	n/a	n/a
4	FOS	chr11:34728850-34728874	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr11:34728714-34728936	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr11:34728804-34728880	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr11:34729441-34729530	Gliobla	brain:	n/a	n/a
8	POLR2A	chr11:34729487-34729602	ProgFib	skin:	n/a	n/a
9	POLR2A	chr11:34729360-34729372	Gliobla	brain:	n/a	n/a
10	POLR2A	chr11:34729162-34729187	A549	lung:	n/a	n/a
11	POLR2A	chr11:34729222-34729351	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:34729380-34729587	A549	lung:	n/a	n/a
13	POLR2A	chr11:34729192-34729337	A549	lung:	n/a	n/a
14	POLR2A	chr11:34729130-34729317	Gliobla	brain:	n/a	n/a
15	USF1	chr11:34729094-34729286	HepG2	liver:	n/a	chr11:34729197-34729208
16	ZNF143	chr11:34728798-34728884	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000271369	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577372653	chr11:34727435-34727436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551266855	chr11:34727498-34727499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189675445	chr11:34727526-34727527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192730620	chr11:34727562-34727563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540099706	chr11:34727602-34727603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553467380	chr11:34727604-34727605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573714873	chr11:34727605-34727606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535977981	chr11:34727611-34727612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147400682	chr11:34727612-34727613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556263402	chr11:34727647-34727648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576711058	chr11:34727704-34727705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1097401	chr11:34727708-34727709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs11825395	chr11:34727740-34727741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs372126178	chr11:34727754-34727755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12279635	chr11:34727837-34727838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375519761	chr11:34727843-34727844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7127169	chr11:34727846-34727847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs561113997	chr11:34727867-34727868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147073796	chr11:34727932-34727933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549884725	chr11:34728005-34728006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11529953	chr11:34728051-34728052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs541853251	chr11:34728103-34728104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200776471	chr11:34728124-34728125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560201252	chr11:34728164-34728165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531414178	chr11:34728235-34728236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551157742	chr11:34728252-34728253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184451962	chr11:34728253-34728254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370211064	chr11:34728273-34728274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145058712	chr11:34728347-34728348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146059647	chr11:34728348-34728349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533830219	chr11:34728353-34728354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72519785	chr11:34728359-34728360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34313829	chr11:34728360-34728361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs56120108	chr11:34728389-34728390	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs11032823	chr11:34728447-34728448	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs56136912	chr11:34728459-34728460	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs7131090	chr11:34728462-34728463	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs531548302	chr11:34728475-34728476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569759885	chr11:34728477-34728478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12417662	chr11:34728560-34728561	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs559176110	chr11:34728588-34728589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575212544	chr11:34728613-34728614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs118116730	chr11:34728616-34728617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572735501	chr11:34728640-34728641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567658796	chr11:34728645-34728646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541376787	chr11:34728657-34728658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555216007	chr11:34728733-34728734	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs35967759	chr11:34728741-34728742	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs189275901	chr11:34728828-34728829	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs182309858	chr11:34728849-34728850	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
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
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34716800-34731000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr11:34719800-34728400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:34724200-34728400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:34724200-34728400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:34724200-34728400	Weak transcription	Esophagus	oesophagus
6	chr11:34724200-34729000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:34724200-34730800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:34724200-34731000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:34724200-34731000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:34724200-34731200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:34724200-34731200	Weak transcription	Placenta	Placenta
12	chr11:34724400-34728400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:34724400-34733600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:34725000-34731000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:34725400-34730800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:34726600-34728400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:34728200-34729600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr11:34728400-34728600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:34728400-34728800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:34728400-34728800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:34728400-34729000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:34728400-34729200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:34728400-34729400	Enhancers	NHEK	skin
24	chr11:34728400-34729600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:34728400-34729600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:34728400-34729600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:34728400-34729600	Enhancers	Esophagus	oesophagus
28	chr11:34728600-34729000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:34728600-34729200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr11:34728600-34729400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:34728600-34729600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:34728800-34729200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:34728800-34729800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:34728800-34730200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:34729000-34729600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:34729000-34729800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:34729000-34730600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:34729200-34729400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:34729400-34729600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:34729400-34731000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:34729600-34731000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:34729600-34731000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:34729600-34731200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:34729600-34731200	Weak transcription	Esophagus	oesophagus

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