Variant report

Variant	esv3389694
Chromosome Location	chr9:94542537-94543009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94541932..94544615-chr9:94547110..94550430,3	MCF-7	breast:
2	chr9:94509113..94511832-chr9:94540924..94543887,2	K562	blood:
3	chr9:94542440..94546170-chr9:94710664..94713670,3	K562	blood:

Variant related genes	Relation type
ENSG00000169071	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563619304	chr9:94542576-94542577	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs530680882	chr9:94542577-94542578	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs187670162	chr9:94542586-94542587	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs140834663	chr9:94542608-94542609	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs193208005	chr9:94542615-94542616	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372428517	chr9:94542620-94542621	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528642329	chr9:94542653-94542654	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547105707	chr9:94542654-94542655	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs202073940	chr9:94542662-94542663	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs201221195	chr9:94542667-94542668	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs386736275	chr9:94542668-94542669	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs10992098	chr9:94542669-94542670	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs376574787	chr9:94542673-94542674	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568705429	chr9:94542682-94542683	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs149920558	chr9:94542703-94542704	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs116991002	chr9:94542759-94542760	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs145002524	chr9:94542795-94542796	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs185585739	chr9:94542796-94542797	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs190200080	chr9:94542808-94542809	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558528599	chr9:94542835-94542836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs570111619	chr9:94542888-94542889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs10992099	chr9:94542889-94542890	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs552636984	chr9:94542905-94542906	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs142243104	chr9:94542920-94542921	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs181693936	chr9:94542924-94542925	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs370599469	chr9:94542928-94542929	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201271843	chr9:94542930-94542931	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs556835286	chr9:94542944-94542945	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs111830073	chr9:94542971-94542972	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs146661703	chr9:94542996-94542997	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
overgrowth syndrome	16570072	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94533000-94542800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:94533000-94543600	Weak transcription	Right Atrium	heart
3	chr9:94533400-94549600	Weak transcription	Colonic Mucosa	Colon
4	chr9:94533600-94545400	Enhancers	Stomach Smooth Muscle	stomach
5	chr9:94534400-94546800	Weak transcription	Fetal Kidney	kidney
6	chr9:94536000-94543200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr9:94536000-94543600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr9:94536200-94544600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr9:94537000-94543400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:94537800-94543400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:94537800-94545000	Weak transcription	Fetal Intestine Small	intestine
12	chr9:94537800-94546000	Weak transcription	Gastric	stomach
13	chr9:94538000-94548800	Weak transcription	Esophagus	oesophagus
14	chr9:94538600-94543200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:94538800-94543400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr9:94538800-94543400	Weak transcription	Ovary	ovary
17	chr9:94539000-94543200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr9:94539200-94543400	Weak transcription	Fetal Heart	heart
19	chr9:94539400-94543400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr9:94539600-94543600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr9:94539600-94543800	Weak transcription	Fetal Stomach	stomach
22	chr9:94539800-94542600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:94539800-94543400	Weak transcription	Colon Smooth Muscle	Colon
24	chr9:94540600-94546000	Weak transcription	K562	blood
25	chr9:94540800-94543200	Weak transcription	Fetal Lung	lung
26	chr9:94540800-94543600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:94540800-94545000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr9:94542600-94543200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:94542800-94543600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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