Variant report

Variant	esv3478886
Chromosome Location	chr11:120194256-120194805
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	POLR2A	chr11:120194524-120194900	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:120186835..120191514-chr11:120193209..120197461,6	MCF-7	breast:
2	chr11:120172516..120174094-chr11:120193101..120194869,2	MCF-7	breast:
3	chr11:120105812..120109397-chr11:120193833..120197413,4	K562	blood:
4	chr11:120105900..120109423-chr11:120193866..120196780,3	MCF-7	breast:

Variant related genes	Relation type
TMEM136	TF binding region
ENSG00000137709	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181949623	chr11:120194263-120194264	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs570856620	chr11:120194279-120194280	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs142478016	chr11:120194311-120194312	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs114265007	chr11:120194319-120194320	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568215128	chr11:120194338-120194339	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs536003820	chr11:120194339-120194340	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537042138	chr11:120194355-120194356	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs12421941	chr11:120194357-120194358	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs572799902	chr11:120194385-120194386	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs534124627	chr11:120194387-120194388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs151314995	chr11:120194397-120194398	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs186151822	chr11:120194493-120194494	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs189065256	chr11:120194508-120194509	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs562521667	chr11:120194511-120194512	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs574626018	chr11:120194571-120194572	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs542438282	chr11:120194583-120194584	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs116746606	chr11:120194584-120194585	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs374326169	chr11:120194723-120194724	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs552800239	chr11:120194749-120194750	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs12281995	chr11:120194804-120194805	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Emanuel syndrome	21549014	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Ovarian neoplasms	16753589	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Retinoblastoma	22278416	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Squamous cell cancer	20885788	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Neurocytoma	17123091	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Central neurocytomas	17123091	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Acute myeloid leukemia	19651601	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	20409316	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Barrett''s syndrome	19417022	CNVD
Cancer	20164919	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120188200-120195400	Weak transcription	Pancreas	Pancrea
2	chr11:120188200-120195600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:120188400-120195400	Weak transcription	NHEK	skin
4	chr11:120188400-120195600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:120188600-120195400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:120188600-120195600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:120188600-120195800	Weak transcription	Esophagus	oesophagus
8	chr11:120188800-120195400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:120189600-120195400	Weak transcription	Placenta	Placenta
10	chr11:120190000-120195600	Weak transcription	Right Atrium	heart

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