Variant report

Variant	esv2141179
Chromosome Location	chr2:47468789-47468797
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	chr2:47462369..47466702-chr2:47468560..47470875,4	K562	blood:
2	chr2:47461484..47463869-chr2:47468560..47470717,2	K562	blood:
3	chr2:47467180..47468819-chr2:47490590..47493226,2	MCF-7	breast:
4	chr2:47399687..47407797-chr2:47461699..47469642,25	K562	blood:
5	chr2:47464125..47466702-chr2:47468051..47470081,2	K562	blood:
6	chr2:47399058..47406701-chr2:47458639..47471254,30	K562	blood:
7	chr2:47467890..47470603-chr2:47472070..47473663,2	K562	blood:
8	chr2:47402721..47404828-chr2:47466923..47470052,3	MCF-7	breast:
9	chr2:47468738..47470603-chr2:47472163..47473920,2	K562	blood:
10	chr2:47465412..47469681-chr2:47474773..47478680,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143933	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 67 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137900113	chr2:47468789-47468790	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs113299467	chr2:47468790-47468791	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Breast cancer	17603634	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
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47464200-47468800	Weak transcription	Right Atrium	heart
2	chr2:47466200-47468800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:47466400-47468800	Weak transcription	Ovary	ovary
4	chr2:47466400-47470800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:47466800-47469200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:47466800-47470800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:47467000-47468800	Weak transcription	K562	blood
8	chr2:47467000-47469600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:47467000-47470800	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:47467000-47471000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:47467000-47476400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:47467200-47468800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:47467200-47469000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:47467200-47470600	Weak transcription	Fetal Stomach	stomach
15	chr2:47467200-47471000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:47467200-47476200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:47467400-47469000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:47467400-47471000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:47467400-47476000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:47467400-47476200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:47468600-47469800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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