Variant report

Variant	nsv934276
Chromosome Location	chr9:94485858-94487406
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94484405..94487196-chr9:94488976..94490889,3	K562	blood:
2	chr9:94479518..94481920-chr9:94486342..94488730,2	K562	blood:
3	chr9:94484329..94487574-chr9:94487693..94490602,4	K562	blood:
4	chr9:94422471..94424892-chr9:94484558..94488094,3	MCF-7	breast:

Extended variants
information (count: 170 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:170 , 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	rs561004430	chr9:94485882-94485883	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373798516	chr9:94485903-94485904	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367597436	chr9:94485906-94485907	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371528214	chr9:94485907-94485908	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2230578	chr9:94485928-94485929	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs368832078	chr9:94485929-94485930	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372530728	chr9:94485933-94485934	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199840505	chr9:94485948-94485949	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113793278	chr9:94485956-94485957	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs41277835	chr9:94485971-94485972	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200752982	chr9:94485985-94485986	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371866105	chr9:94485990-94485991	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs199855010	chr9:94485994-94485995	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs56091954	chr9:94486049-94486050	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs374824850	chr9:94486052-94486053	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs367647446	chr9:94486065-94486066	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs202213533	chr9:94486078-94486079	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs180825668	chr9:94486079-94486080	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs141070315	chr9:94486082-94486083	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs149826387	chr9:94486092-94486093	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs146866887	chr9:94486094-94486095	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs369727413	chr9:94486120-94486121	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs373037095	chr9:94486127-94486128	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs200296562	chr9:94486131-94486132	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs200970033	chr9:94486143-94486144	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs369201767	chr9:94486148-94486149	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs200867550	chr9:94486156-94486157	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs369150056	chr9:94486172-94486173	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs577141662	chr9:94486184-94486185	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs56158629	chr9:94486190-94486191	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs140727324	chr9:94486211-94486212	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs375769750	chr9:94486218-94486219	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs202072718	chr9:94486233-94486234	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs534997285	chr9:94486258-94486259	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs373575567	chr9:94486259-94486260	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs145213893	chr9:94486298-94486299	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs146432734	chr9:94486310-94486311	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs149056068	chr9:94486315-94486316	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs10761129	chr9:94486321-94486322	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs148220610	chr9:94486322-94486323	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs200396791	chr9:94486325-94486326	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs202010959	chr9:94486331-94486332	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs185808139	chr9:94486334-94486335	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs560157548	chr9:94486345-94486346	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs376416766	chr9:94486352-94486353	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs141235720	chr9:94486381-94486382	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs146987488	chr9:94486390-94486391	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs532042443	chr9:94486394-94486395	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs374141378	chr9:94486395-94486396	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs267602312	chr9:94486399-94486400	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94458000-94489800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:94474200-94486000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:94477000-94487000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:94477200-94489800	Weak transcription	Right Atrium	heart
5	chr9:94477200-94496800	Weak transcription	NHLF	lung
6	chr9:94477200-94533000	Weak transcription	Fetal Kidney	kidney
7	chr9:94482400-94491600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr9:94483000-94496600	Strong transcription	Fetal Stomach	stomach
9	chr9:94483400-94486000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr9:94483400-94486800	Strong transcription	Colon Smooth Muscle	Colon
11	chr9:94483400-94489800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:94483400-94501600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr9:94483600-94487600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr9:94483600-94504000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:94483600-94519400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr9:94483800-94486200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr9:94483800-94489400	Strong transcription	Stomach Smooth Muscle	stomach
18	chr9:94484200-94486000	Weak transcription	Esophagus	oesophagus
19	chr9:94484200-94489200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:94484400-94486800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr9:94484400-94487000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:94484400-94487000	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr9:94484400-94488200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:94484400-94488400	Strong transcription	Fetal Intestine Large	intestine
25	chr9:94484400-94489000	Strong transcription	Gastric	stomach
26	chr9:94484400-94489400	Strong transcription	Fetal Intestine Small	intestine
27	chr9:94484600-94487400	Weak transcription	K562	blood
28	chr9:94484600-94488600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr9:94484600-94488800	Weak transcription	Placenta	Placenta
30	chr9:94484600-94489000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr9:94484600-94489000	Strong transcription	Ovary	ovary
32	chr9:94484800-94486400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr9:94484800-94487600	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr9:94485000-94486600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr9:94485000-94489800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:94485200-94487000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr9:94485400-94486200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:94485400-94489000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr9:94485600-94487200	Strong transcription	Spleen	Spleen
40	chr9:94485600-94491600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr9:94485800-94487400	Weak transcription	Fetal Lung	lung
42	chr9:94485800-94487800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr9:94485800-94498400	Weak transcription	Fetal Muscle Leg	muscle
44	chr9:94486000-94486800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:94486000-94487000	ZNF genes & repeats	Esophagus	oesophagus
46	chr9:94486000-94489000	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr9:94486200-94487000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr9:94486200-94521000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr9:94486400-94487200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr9:94486600-94487400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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