Variant report

Variant	esv3363610
Chromosome Location	chr2:10947933-10948389
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10940410..10942215-chr2:10947909..10950138,3	K562	blood:
2	chr2:10946127..10948474-chr2:10951260..10952825,2	MCF-7	breast:
3	chr2:10942788..10944367-chr2:10946747..10949659,2	K562	blood:
4	chr2:10948180..10949704-chr2:10951238..10953196,2	K562	blood:
5	chr2:10947754..10949615-chr2:11268944..11271404,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143870	chromatin interactions

Extended variants
information (count: 9 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1387570	chr2:10947940-10947941	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs1387569	chr2:10947993-10947994	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs116419031	chr2:10948052-10948053	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs17456162	chr2:10948090-10948091	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs372402188	chr2:10948137-10948138	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs1387568	chr2:10948141-10948142	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs545304200	chr2:10948262-10948263	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs141134126	chr2:10948283-10948284	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs370061050	chr2:10948310-10948311	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10915600-10950400	Weak transcription	Right Atrium	heart
2	chr2:10929400-10951000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:10933400-10948600	Weak transcription	Pancreas	Pancrea
4	chr2:10935400-10948200	Weak transcription	Stomach Mucosa	stomach
5	chr2:10936000-10948400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:10936000-10950400	Weak transcription	Gastric	stomach
7	chr2:10937200-10951000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:10937600-10950400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:10937600-10950400	Weak transcription	Fetal Brain Male	brain
10	chr2:10937600-10951000	Weak transcription	Esophagus	oesophagus
11	chr2:10937800-10949400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:10937800-10950000	Weak transcription	Fetal Heart	heart
13	chr2:10938200-10950800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:10941400-10948400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:10941400-10951000	Weak transcription	Aorta	Aorta
16	chr2:10941400-10951400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:10941600-10948400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:10941600-10950400	Weak transcription	Right Ventricle	heart
19	chr2:10941800-10950200	Weak transcription	Fetal Kidney	kidney
20	chr2:10941800-10951400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:10942000-10948000	Weak transcription	Fetal Brain Female	brain
22	chr2:10942000-10948400	Weak transcription	Ovary	ovary
23	chr2:10942000-10948400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:10942000-10950200	Weak transcription	HSMMtube	muscle
25	chr2:10942000-10950400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:10942000-10950400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:10942200-10948200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:10942200-10948400	Weak transcription	Brain Anterior Caudate	brain
29	chr2:10942200-10949400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:10942200-10950200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:10942200-10950200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:10942200-10950200	Weak transcription	Adipose Nuclei	Adipose
33	chr2:10942200-10950200	Weak transcription	NHDF-Ad	bronchial
34	chr2:10942200-10950400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:10942200-10950400	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:10942200-10950400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr2:10942200-10950400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:10942200-10951000	Weak transcription	Spleen	Spleen
39	chr2:10942200-10951400	Weak transcription	Lung	lung
40	chr2:10942400-10950000	Weak transcription	NH-A	brain
41	chr2:10942400-10950000	Weak transcription	NHLF	lung
42	chr2:10942400-10950000	Weak transcription	Osteobl	bone
43	chr2:10942400-10950200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:10942400-10950200	Weak transcription	Fetal Intestine Large	intestine
45	chr2:10942400-10950400	Weak transcription	Colonic Mucosa	Colon
46	chr2:10942400-10950400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:10942400-10950400	Weak transcription	Thymus	Thymus
48	chr2:10942400-10950800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr2:10942400-10951200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr2:10942600-10948600	Weak transcription	Hela-S3	cervix

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