Variant report

Variant	esv3322562
Chromosome Location	chr11:34726276-34730574
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	chr11:34728714-34728936	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr11:34728850-34728874	MCF10A-Er-Src	breast:	n/a	n/a
6	KAP1	chr11:34726276-34726671	K562	blood:	n/a	n/a
7	MYC	chr11:34728804-34728880	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr11:34729130-34729317	Gliobla	brain:	n/a	n/a
9	POLR2A	chr11:34729487-34729602	ProgFib	skin:	n/a	n/a
10	POLR2A	chr11:34729162-34729187	A549	lung:	n/a	n/a
11	POLR2A	chr11:34729192-34729337	A549	lung:	n/a	n/a
12	POLR2A	chr11:34729441-34729530	Gliobla	brain:	n/a	n/a
13	POLR2A	chr11:34726099-34726279	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr11:34726813-34726844	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr11:34729222-34729351	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr11:34729380-34729587	A549	lung:	n/a	n/a
17	POLR2A	chr11:34729360-34729372	Gliobla	brain:	n/a	n/a
18	REST	chr11:34726162-34726432	HL-60	blood:	n/a	n/a
19	REST	chr11:34726125-34726317	K562	blood:	n/a	n/a
20	REST	chr11:34726060-34726465	HL-60	blood:	n/a	n/a
21	USF1	chr11:34729094-34729286	HepG2	liver:	n/a	chr11:34729197-34729208
22	ZNF143	chr11:34728798-34728884	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000271369	TF binding region

Extended variants
information (count: 152 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553939680	chr11:34726282-34726283	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs566678200	chr11:34726412-34726413	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs535251811	chr11:34726443-34726444	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs555646330	chr11:34726461-34726462	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs575179284	chr11:34726473-34726474	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs76486081	chr11:34726475-34726476	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
7	rs34939447	chr11:34726584-34726585	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs397848912	chr11:34726585-34726586	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs115062677	chr11:34726616-34726617	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs1097400	chr11:34726617-34726618	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559964646	chr11:34726631-34726632	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs529498267	chr11:34726661-34726662	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs542842782	chr11:34726666-34726667	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs563242610	chr11:34726668-34726669	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs372619055	chr11:34726674-34726675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532021303	chr11:34726730-34726731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551831025	chr11:34726748-34726749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80155945	chr11:34726778-34726779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74778853	chr11:34726792-34726793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373066755	chr11:34726902-34726903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376272447	chr11:34726954-34726955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1597960	chr11:34726969-34726970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567615575	chr11:34726997-34726998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535683561	chr11:34727051-34727052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555272241	chr11:34727073-34727074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568843913	chr11:34727094-34727095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1597961	chr11:34727114-34727115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs150187078	chr11:34727129-34727130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192030307	chr11:34727133-34727134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77153046	chr11:34727165-34727166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1597962	chr11:34727172-34727173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs78946907	chr11:34727222-34727223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148812068	chr11:34727228-34727229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543233803	chr11:34727255-34727256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550153027	chr11:34727298-34727299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576673982	chr11:34727318-34727319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4465347	chr11:34727333-34727334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs367658859	chr11:34727339-34727340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527696346	chr11:34727346-34727347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184626522	chr11:34727357-34727358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561482566	chr11:34727373-34727374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530119298	chr11:34727379-34727380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549194770	chr11:34727398-34727399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11823145	chr11:34727400-34727401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs537623450	chr11:34727422-34727423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577372653	chr11:34727435-34727436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551266855	chr11:34727498-34727499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189675445	chr11:34727526-34727527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192730620	chr11:34727562-34727563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540099706	chr11:34727602-34727603	Weak transcription	n/a	n/a	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:49 , 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	chr11:34719600-34726600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:34719800-34728400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:34724200-34728400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:34724200-34728400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:34724200-34728400	Weak transcription	Esophagus	oesophagus
7	chr11:34724200-34729000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:34724200-34730800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:34724200-34731000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:34724200-34731000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:34724200-34731200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:34724200-34731200	Weak transcription	Placenta	Placenta
13	chr11:34724400-34728400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:34724400-34733600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:34725000-34731000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:34725200-34727000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:34725400-34730800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:34726600-34728400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:34728200-34729600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr11:34728400-34728600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:34728400-34728800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:34728400-34728800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:34728400-34729000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:34728400-34729200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:34728400-34729400	Enhancers	NHEK	skin
26	chr11:34728400-34729600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:34728400-34729600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:34728400-34729600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:34728400-34729600	Enhancers	Esophagus	oesophagus
30	chr11:34728600-34729000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:34728600-34729200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr11:34728600-34729400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:34728600-34729600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:34728800-34729200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:34728800-34729800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:34728800-34730200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:34729000-34729600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:34729000-34729800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:34729000-34730600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:34729200-34729400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:34729400-34729600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:34729400-34731000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:34729600-34731000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:34729600-34731000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:34729600-34731200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:34729600-34731200	Weak transcription	Esophagus	oesophagus
47	chr11:34729800-34730400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr11:34729800-34731000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:34730200-34735800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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