Variant report

Variant	esv3362149
Chromosome Location	chr9:94471631-94475529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94469048..94471764-chr9:94472255..94474625,2	MCF-7	breast:
2	chr9:94474813..94478609-chr9:94479157..94482495,5	K562	blood:
3	chr9:94186298..94187810-chr9:94475229..94478202,2	MCF-7	breast:
4	chr9:94469048..94471764-chr9:94472255..94474625,2	MCF-7	breast:

Extended variants
information (count: 191 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570186937	chr9:94471660-94471661	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs181072661	chr9:94471677-94471678	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs552802328	chr9:94471712-94471713	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs73521457	chr9:94471733-94471734	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538281639	chr9:94471799-94471800	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs186415686	chr9:94471800-94471801	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs191180023	chr9:94471807-94471808	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs75940165	chr9:94471875-94471876	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs181537161	chr9:94471897-94471898	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs113794160	chr9:94471917-94471918	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs56138625	chr9:94471931-94471932	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs73654033	chr9:94471932-94471933	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs112144179	chr9:94471970-94471971	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs199626033	chr9:94472048-94472049	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs541481367	chr9:94472069-94472070	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs559782931	chr9:94472071-94472072	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs530222777	chr9:94472072-94472073	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs73521459	chr9:94472099-94472100	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186865900	chr9:94472112-94472113	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs146765256	chr9:94472128-94472129	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs368958591	chr9:94472174-94472175	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs111892019	chr9:94472227-94472228	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151156811	chr9:94472249-94472250	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs398046610	chr9:94472266-94472267	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs67857232	chr9:94472320-94472321	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs571163096	chr9:94472346-94472347	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534982258	chr9:94472354-94472355	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191606356	chr9:94472355-94472356	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564807890	chr9:94472358-94472359	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183064243	chr9:94472394-94472395	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535954881	chr9:94472460-94472461	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79118808	chr9:94472496-94472497	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576031011	chr9:94472574-94472575	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565474238	chr9:94472575-94472576	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188154460	chr9:94472588-94472589	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558465361	chr9:94472592-94472593	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139434878	chr9:94472600-94472601	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541282412	chr9:94472635-94472636	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377496663	chr9:94472696-94472697	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56980954	chr9:94472738-94472739	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs59819891	chr9:94472778-94472779	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs541981344	chr9:94472805-94472806	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563833344	chr9:94472806-94472807	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530898975	chr9:94472830-94472831	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75853783	chr9:94472835-94472836	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73654034	chr9:94472844-94472845	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528768379	chr9:94472845-94472846	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371253368	chr9:94472865-94472866	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78240043	chr9:94472888-94472889	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565356210	chr9:94472891-94472892	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Breast cancer	22522925	CNVD
overgrowth syndrome	16570072	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94458000-94473400	Weak transcription	Gastric	stomach
2	chr9:94458000-94489800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:94467600-94474000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:94468000-94474200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr9:94469400-94472400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr9:94469400-94476600	Weak transcription	Colonic Mucosa	Colon
7	chr9:94469400-94476600	Weak transcription	Fetal Stomach	stomach
8	chr9:94469600-94474000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:94469600-94474000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:94472200-94472600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr9:94472200-94472800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr9:94472200-94473200	Weak transcription	K562	blood
13	chr9:94472200-94476000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr9:94472400-94473000	Enhancers	Primary B cells from cord blood	blood
15	chr9:94472400-94473400	Strong transcription	Stomach Smooth Muscle	stomach
16	chr9:94472400-94474200	Weak transcription	Fetal Brain Male	brain
17	chr9:94472400-94476800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr9:94472600-94473000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr9:94472600-94473200	Active TSS	Fetal Kidney	kidney
20	chr9:94472800-94473200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:94472800-94473400	Enhancers	Primary hematopoietic stem cells	blood
22	chr9:94472800-94474200	Enhancers	GM12878-XiMat	blood
23	chr9:94472800-94476600	Enhancers	Primary B cells from peripheral blood	blood
24	chr9:94473000-94474200	Weak transcription	Primary B cells from cord blood	blood
25	chr9:94473000-94476600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr9:94473200-94473400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr9:94473200-94473400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:94473200-94473400	Flanking Active TSS	Fetal Kidney	kidney
29	chr9:94473200-94473800	Strong transcription	K562	blood
30	chr9:94473200-94474200	Active TSS	Fetal Lung	lung
31	chr9:94473200-94474200	ZNF genes & repeats	Lung	lung
32	chr9:94473200-94476600	Weak transcription	Right Atrium	heart
33	chr9:94473400-94473600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:94473400-94473600	ZNF genes & repeats	Gastric	stomach
35	chr9:94473400-94473600	Enhancers	Pancreas	Pancrea
36	chr9:94473400-94473800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr9:94473400-94473800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:94473400-94474200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:94473400-94474200	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
40	chr9:94473400-94474200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
41	chr9:94473400-94474800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr9:94473400-94476000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr9:94473600-94473800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:94473600-94473800	Enhancers	Gastric	stomach
45	chr9:94473600-94474600	ZNF genes & repeats	Pancreas	Pancrea
46	chr9:94473800-94474000	Flanking Active TSS	Gastric	stomach
47	chr9:94473800-94474200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr9:94473800-94474200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr9:94473800-94475000	Enhancers	Primary hematopoietic stem cells	blood
50	chr9:94473800-94483400	Weak transcription	K562	blood

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