Variant report

Variant	esv3337233
Chromosome Location	chr9:94702817-94703325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:94700947..94708226-chr9:94708551..94712716,11	K562	blood:
2	chr9:94702364..94705189-chr9:94709744..94712716,4	K562	blood:

Variant related genes	Relation type
ENSG00000169071	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148873501	chr9:94702839-94702840	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs574666563	chr9:94702868-94702869	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570738211	chr9:94702877-94702878	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs183433854	chr9:94702884-94702885	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs200293150	chr9:94702890-94702891	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554611559	chr9:94702929-94702930	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568358825	chr9:94702974-94702975	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs71955954	chr9:94702987-94702988	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs368446555	chr9:94702994-94702995	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs74710025	chr9:94702996-94702997	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs185857451	chr9:94703036-94703037	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs112363424	chr9:94703099-94703100	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs564714442	chr9:94703114-94703115	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373488291	chr9:94703175-94703176	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs117369959	chr9:94703181-94703182	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs541311729	chr9:94703182-94703183	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs190610233	chr9:94703226-94703227	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs529879963	chr9:94703252-94703253	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs371606028	chr9:94703277-94703278	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs11321454	chr9:94703297-94703298	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Mental retardation	21693067	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
Breast cancer	21364760	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94698000-94708200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:94698400-94707000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:94698400-94707600	Weak transcription	Fetal Intestine Small	intestine
4	chr9:94698600-94708200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:94700800-94707000	Weak transcription	Gastric	stomach
6	chr9:94701000-94703000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:94701400-94707800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:94701800-94703000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr9:94702000-94706200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr9:94702200-94703000	Genic enhancers	Fetal Stomach	stomach
11	chr9:94702400-94703200	Enhancers	K562	blood
12	chr9:94702400-94704800	Weak transcription	Fetal Lung	lung
13	chr9:94702400-94707200	Weak transcription	Placenta	Placenta
14	chr9:94702400-94707600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr9:94702600-94703400	Enhancers	Colon Smooth Muscle	Colon
16	chr9:94702600-94703600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:94702600-94704800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr9:94702600-94705800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr9:94702600-94707200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr9:94702800-94703000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:94702800-94703000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr9:94702800-94703000	Enhancers	Lung	lung
23	chr9:94702800-94706400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr9:94702800-94706800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr9:94702800-94707800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr9:94702800-94708200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:94703000-94703600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:94703000-94703800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr9:94703000-94703800	Weak transcription	Lung	lung
30	chr9:94703000-94705600	Weak transcription	Fetal Stomach	stomach
31	chr9:94703000-94707600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr9:94703000-94707600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr9:94703200-94703400	Weak transcription	K562	blood

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