Variant report

Variant	esv3482527
Chromosome Location	chr9:94794771-94797138
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94796191..94798036-chr9:94830932..94833373,2	K562	blood:
2	chr9:94795340..94797620-chr9:94880079..94882545,2	K562	blood:
3	chr9:94714238..94717195-chr9:94796671..94799619,2	MCF-7	breast:

Extended variants
information (count: 107 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150207007	chr9:94794779-94794780	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs150792865	chr9:94794784-94794785	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs201892291	chr9:94794787-94794788	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs576723834	chr9:94794811-94794812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112405383	chr9:94794831-94794832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368571104	chr9:94794843-94794844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553040615	chr9:94794844-94794845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375601587	chr9:94794848-94794849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574766021	chr9:94794863-94794864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372893288	chr9:94794885-94794886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374582645	chr9:94794886-94794887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575360164	chr9:94794897-94794898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368575586	chr9:94794911-94794912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10115565	chr9:94794922-94794923	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs564445488	chr9:94794963-94794964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528453598	chr9:94794972-94794973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145305205	chr9:94795030-94795031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561774184	chr9:94795074-94795075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529539138	chr9:94795089-94795090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550902330	chr9:94795090-94795091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28735483	chr9:94795114-94795115	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs539646708	chr9:94795128-94795129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552219174	chr9:94795129-94795130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547785717	chr9:94795135-94795136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570467383	chr9:94795139-94795140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375980009	chr9:94795152-94795153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11355920	chr9:94795158-94795159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs386736300	chr9:94795172-94795173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534740335	chr9:94795173-94795174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370457080	chr9:94795177-94795178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58814130	chr9:94795197-94795198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77372933	chr9:94795278-94795279	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565958386	chr9:94795288-94795289	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565050297	chr9:94795292-94795293	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371770037	chr9:94795305-94795306	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574527833	chr9:94795334-94795335	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535709757	chr9:94795392-94795393	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556980042	chr9:94795421-94795422	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575369215	chr9:94795447-94795448	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539882422	chr9:94795494-94795495	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545694556	chr9:94795509-94795510	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557976243	chr9:94795518-94795519	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75212506	chr9:94795547-94795548	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572979085	chr9:94795548-94795549	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75239547	chr9:94795565-94795566	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140300529	chr9:94795619-94795620	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs180889644	chr9:94795641-94795642	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375293358	chr9:94795780-94795781	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186142536	chr9:94795787-94795788	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563060405	chr9:94795817-94795818	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94782400-94795600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr9:94785200-94795200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:94785400-94795200	Weak transcription	HMEC	breast
4	chr9:94787400-94795000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr9:94788400-94795800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr9:94788800-94795400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:94789000-94795200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:94790000-94796400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr9:94790800-94795200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr9:94791000-94795400	Weak transcription	A549	lung
11	chr9:94791000-94795800	Weak transcription	Colonic Mucosa	Colon
12	chr9:94791200-94795000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr9:94791200-94804400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr9:94791400-94797400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:94791400-94797800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:94791400-94805400	Weak transcription	Psoas Muscle	Psoas
17	chr9:94791800-94797800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr9:94791800-94798600	Strong transcription	Duodenum Mucosa	Duodenum
19	chr9:94792200-94795200	Weak transcription	Brain Angular Gyrus	brain
20	chr9:94792200-94795400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:94792200-94795400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr9:94792200-94795600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr9:94792200-94797800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr9:94792200-94801000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr9:94792200-94804000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr9:94792400-94801000	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr9:94792400-94801200	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr9:94792400-94801800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr9:94792600-94797000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:94792600-94800400	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr9:94792600-94801200	Strong transcription	Liver	Liver
32	chr9:94792800-94795200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr9:94792800-94796400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr9:94792800-94797000	Strong transcription	NHDF-Ad	bronchial
35	chr9:94792800-94797800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr9:94792800-94799600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr9:94792800-94800400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr9:94792800-94802000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr9:94792800-94802400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr9:94792800-94804400	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr9:94793000-94795200	Weak transcription	Fetal Thymus	thymus
42	chr9:94793000-94796200	Weak transcription	HepG2	liver
43	chr9:94793000-94803200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr9:94793200-94795200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr9:94793200-94795400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr9:94793200-94804200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr9:94793400-94795200	Weak transcription	K562	blood
48	chr9:94793400-94801200	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr9:94793400-94801400	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr9:94793600-94797400	Strong transcription	Adipose Nuclei	Adipose

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