Variant report

Variant	esv1033233
Chromosome Location	chr9:100807539-100807551
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100799367..100802266-chr9:100805470..100807708,2	MCF-7	breast:
2	chr9:100743649..100747393-chr9:100806371..100809307,4	K562	blood:
3	chr9:100686261..100688755-chr9:100806613..100809213,2	K562	blood:
4	chr9:100679327..100688755-chr9:100804829..100810921,12	K562	blood:
5	chr9:100806589..100809484-chr9:100810464..100812482,2	MCF-7	breast:
6	chr9:100806291..100808002-chr9:100817271..100819268,2	MCF-7	breast:
7	chr9:100458298..100461061-chr9:100806544..100809239,2	K562	blood:
8	chr9:100743537..100749297-chr9:100805473..100813198,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000136936	chromatin interactions
ENSG00000136932	chromatin interactions
ENSG00000095380	chromatin interactions
ENSG00000136938	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 74 )

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	rs150067371	chr9:100807551-100807552	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100798000-100807600	Weak transcription	HSMMtube	muscle
2	chr9:100802400-100809600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:100802800-100807600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr9:100804800-100807800	Enhancers	Primary B cells from peripheral blood	blood
5	chr9:100806000-100808000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr9:100807000-100807600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr9:100807000-100807600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr9:100807000-100807600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr9:100807000-100807600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr9:100807000-100807600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr9:100807000-100807600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr9:100807000-100807600	Flanking Active TSS	GM12878-XiMat	blood
13	chr9:100807000-100807800	Enhancers	Primary T cells fromperipheralblood	blood
14	chr9:100807000-100807800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr9:100807000-100807800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr9:100807200-100807600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr9:100807200-100807600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr9:100807200-100807600	Flanking Active TSS	Dnd41	blood
19	chr9:100807200-100807800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr9:100807200-100807800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr9:100807200-100807800	Enhancers	Fetal Thymus	thymus
22	chr9:100807200-100808200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr9:100807400-100807600	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr9:100807400-100807600	Enhancers	HSMM	muscle
25	chr9:100807400-100807800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr9:100807400-100807800	Flanking Active TSS	HepG2	liver
27	chr9:100807400-100807800	Flanking Active TSS	K562	blood
28	chr9:100807400-100808000	Active TSS	Primary hematopoietic stem cells	blood
29	chr9:100807400-100808000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr9:100807400-100808000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr9:100807400-100808600	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr9:100807400-100808800	Active TSS	Duodenum Mucosa	Duodenum
33	chr9:100807400-100808800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr9:100807400-100810000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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