Variant report

Variant	esv3341294
Chromosome Location	chr9:116120130-116120241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116110132..116116489-chr9:116119507..116125005,8	MCF-7	breast:
2	chr9:115196115..115198576-chr9:116119511..116121526,2	K562	blood:
3	chr9:116118659..116121326-chr9:116124549..116126674,2	MCF-7	breast:
4	chr9:116119995..116122506-chr9:116129873..116132566,2	MCF-7	breast:
5	chr9:116108733..116111186-chr9:116118329..116120582,2	MCF-7	breast:
6	chr9:116119997..116122234-chr9:116127833..116130251,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119411	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540505152	chr9:116120140-116120141	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs72760058	chr9:116120147-116120148	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs371820399	chr9:116120167-116120168	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs4978538	chr9:116120184-116120185	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs7848365	chr9:116120186-116120187	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376472852	chr9:116120188-116120189	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369447826	chr9:116120204-116120205	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200805888	chr9:116120206-116120207	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs71367720	chr9:116120220-116120221	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs80125411	chr9:116120224-116120225	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116112800-116122800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:116113000-116135600	Weak transcription	Colonic Mucosa	Colon
3	chr9:116113000-116138000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr9:116113400-116135200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr9:116113800-116122200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr9:116113800-116137800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr9:116114000-116127400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr9:116114200-116136400	Weak transcription	Primary B cells from cord blood	blood
9	chr9:116115000-116121600	Weak transcription	Gastric	stomach
10	chr9:116115200-116121000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr9:116115200-116121600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr9:116115400-116123400	Weak transcription	Stomach Mucosa	stomach
13	chr9:116115400-116135000	Weak transcription	Esophagus	oesophagus
14	chr9:116115600-116121600	Weak transcription	Pancreas	Pancrea
15	chr9:116115600-116132800	Weak transcription	Fetal Intestine Large	intestine
16	chr9:116115800-116125800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:116116200-116122600	Weak transcription	Brain Anterior Caudate	brain
18	chr9:116116400-116137000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:116116600-116126400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr9:116117800-116124000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr9:116118000-116122400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr9:116118200-116120200	Weak transcription	Fetal Intestine Small	intestine
23	chr9:116118800-116121800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr9:116119600-116120400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr9:116120200-116126400	Strong transcription	Fetal Intestine Small	intestine
26	chr9:116120200-116131800	Weak transcription	Lung	lung

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