Variant report

Variant	esv1923246
Chromosome Location	chr2:9877163-9877165
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:245493743..245494253-chr2:9877159..9877996,2	MCF-7	breast:
2	chr2:9694952..9697993-chr2:9876014..9878927,3	MCF-7	breast:
3	chr2:9871478..9874528-chr2:9876144..9879356,3	K562	blood:
4	chr2:9855761..9857318-chr2:9876058..9878208,2	K562	blood:

Variant related genes	Relation type
ENSG00000151694	chromatin interactions
ENSG00000271855	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 57 )

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	rs143137600	chr2:9877163-9877164	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs372133853	chr2:9877164-9877165	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9875000-9879200	Enhancers	Primary T cells fromperipheralblood	blood
2	chr2:9875000-9879200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:9875000-9879400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:9875000-9879400	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr2:9875200-9877400	Enhancers	HMEC	breast
6	chr2:9875200-9877600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:9875200-9877600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr2:9875200-9877800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:9875200-9878800	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:9875200-9879000	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr2:9875200-9879000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr2:9875200-9879000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:9875200-9879000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr2:9875200-9879400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:9875200-9879400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr2:9875400-9879000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr2:9875400-9879200	Enhancers	Primary T cells from cord blood	blood
18	chr2:9875600-9877400	Enhancers	Thymus	Thymus
19	chr2:9875800-9877800	Enhancers	Fetal Thymus	thymus
20	chr2:9875800-9879200	Weak transcription	Esophagus	oesophagus
21	chr2:9876200-9878600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:9876400-9878800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:9876800-9878600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:9877000-9879000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:9877000-9879200	Enhancers	Fetal Muscle Leg	muscle

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