Variant report

Variant	esv1581476
Chromosome Location	chr2:9948987-9948988
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:9948913..9951655-chr2:9969307..9971290,2	MCF-7	breast:
2	chr2:9948192..9950621-chr2:10182726..10184931,3	MCF-7	breast:
3	chr2:9947583..9953611-chr2:9980461..9984922,8	MCF-7	breast:
4	chr2:9940885..9945263-chr2:9946727..9949411,4	K562	blood:
5	chr2:9948978..9951882-chr2:10166549..10169090,2	MCF-7	breast:
6	chr2:9948773..9949474-chr2:9970552..9971153,2	MCF-7	breast:
7	chr2:9945041..9950358-chr2:10256783..10262735,6	K562	blood:
8	chr2:9947664..9950412-chr2:10090108..10093730,4	MCF-7	breast:
9	chr2:9946709..9949837-chr2:10090072..10092095,4	MCF-7	breast:
10	chr2:9948070..9949733-chr2:10038866..10041132,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115750	chromatin interactions
ENSG00000134317	chromatin interactions
ENSG00000172059	chromatin interactions
ENSG00000272524	chromatin interactions
ENSG00000171848	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 59 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71389291	chr2:9948988-9948989	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Neuroblastoma	18923524	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9933200-9953800	Weak transcription	Fetal Heart	heart
2	chr2:9940400-9953600	Weak transcription	Right Atrium	heart
3	chr2:9940600-9949400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:9940600-9949800	Weak transcription	Lung	lung
5	chr2:9941800-9951800	Weak transcription	Psoas Muscle	Psoas
6	chr2:9943200-9949200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:9943400-9949400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:9943600-9949000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:9944000-9949000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:9944000-9949400	Weak transcription	Colonic Mucosa	Colon
11	chr2:9944000-9949400	Weak transcription	Fetal Intestine Large	intestine
12	chr2:9945400-9950200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:9945600-9949400	Weak transcription	HSMMtube	muscle
14	chr2:9945800-9949600	Weak transcription	HSMM	muscle
15	chr2:9946000-9950200	Enhancers	Esophagus	oesophagus
16	chr2:9946000-9953600	Weak transcription	Osteobl	bone
17	chr2:9946200-9949600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:9946600-9949000	Weak transcription	Gastric	stomach
19	chr2:9946600-9953400	Weak transcription	Right Ventricle	heart
20	chr2:9947600-9949800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:9947600-9950000	Enhancers	Placenta	Placenta
22	chr2:9948000-9949800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:9948000-9952000	Weak transcription	Spleen	Spleen
24	chr2:9948400-9949800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:9948400-9950200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:9948400-9950200	Enhancers	Stomach Mucosa	stomach
27	chr2:9948400-9953200	Enhancers	NHEK	skin
28	chr2:9948600-9950000	Enhancers	HMEC	breast
29	chr2:9948600-9950400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:9948800-9949200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr2:9948800-9950000	Enhancers	Pancreas	Pancrea

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