Variant report

Variant	esv3332889
Chromosome Location	chr11:57053934-57054385
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57052039..57055277-chr11:57089920..57092919,3	MCF-7	breast:
2	chr11:57051990..57054187-chr11:57076546..57078465,2	MCF-7	breast:
3	chr11:57054342..57056926-chr11:57058891..57060493,2	MCF-7	breast:
4	chr11:57053497..57056158-chr11:57061828..57064102,2	K562	blood:
5	chr11:57054119..57055817-chr11:57056787..57058987,2	K562	blood:

Variant related genes	Relation type
ENSG00000149115	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376744947	chr11:57053939-57053940	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs36090449	chr11:57053998-57053999	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs548908825	chr11:57054005-57054006	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs4939132	chr11:57054105-57054106	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs537078325	chr11:57054120-57054121	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs140258581	chr11:57054151-57054152	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs185434662	chr11:57054193-57054194	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs116711940	chr11:57054256-57054257	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs552704416	chr11:57054263-57054264	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs76518918	chr11:57054265-57054266	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs541689531	chr11:57054266-57054267	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs77124283	chr11:57054294-57054295	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576333781	chr11:57054300-57054301	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs543832502	chr11:57054383-57054384	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57045800-57054200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:57046000-57062000	Weak transcription	Right Atrium	heart
3	chr11:57046600-57056000	Weak transcription	Adipose Nuclei	Adipose
4	chr11:57048200-57055200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:57048200-57055600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:57048200-57056400	Weak transcription	Gastric	stomach
7	chr11:57051400-57055000	Weak transcription	HMEC	breast
8	chr11:57051400-57055200	Weak transcription	NHEK	skin
9	chr11:57051400-57055800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:57051400-57056200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:57051600-57054200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:57051600-57055600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:57051600-57055600	Weak transcription	HSMM	muscle
14	chr11:57051600-57056200	Weak transcription	Stomach Mucosa	stomach
15	chr11:57051600-57056600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr11:57051800-57054400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:57051800-57055400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:57051800-57055600	Weak transcription	NHDF-Ad	bronchial
19	chr11:57051800-57055800	Weak transcription	Small Intestine	intestine
20	chr11:57051800-57056200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:57051800-57056400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:57051800-57056400	Weak transcription	Esophagus	oesophagus
23	chr11:57051800-57062000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:57052000-57055800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:57052000-57055800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr11:57052000-57056000	Weak transcription	Fetal Intestine Small	intestine
27	chr11:57052000-57056200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:57052000-57056200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:57052000-57056400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:57052000-57056600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:57052200-57055800	Weak transcription	HSMMtube	muscle
32	chr11:57052200-57056400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:57052200-57056400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:57052200-57060400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr11:57052400-57055400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:57052400-57055400	Weak transcription	Fetal Intestine Large	intestine
37	chr11:57052400-57055400	Weak transcription	Osteobl	bone
38	chr11:57052400-57057200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:57052400-57078200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr11:57052600-57055200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:57052800-57056000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:57053800-57056400	Weak transcription	Placenta	Placenta
43	chr11:57054200-57054800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr11:57054200-57054800	Enhancers	Sigmoid Colon	Sigmoid Colon

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