Variant report

Variant	esv3422300
Chromosome Location	chr9:140711431-140715729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:140713786..140716725-chr9:140719882..140722951,3	K562	blood:
2	chr9:140706148..140709058-chr9:140712432..140716292,4	K562	blood:
3	chr9:140700744..140703518-chr9:140712352..140715179,2	K562	blood:
4	chr9:140699377..140703481-chr9:140712801..140716368,4	K562	blood:
5	chr9:140706148..140707731-chr9:140712808..140715644,2	K562	blood:

Variant related genes	Relation type
ENSG00000181090	chromatin interactions

Extended variants
information (count: 274 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112054611	chr9:140711519-140711520	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560549683	chr9:140711627-140711628	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74636464	chr9:140711633-140711634	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538573095	chr9:140711641-140711642	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139303904	chr9:140711689-140711690	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575126681	chr9:140711692-140711693	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374873054	chr9:140711706-140711707	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75000513	chr9:140711738-140711739	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574843307	chr9:140711769-140711770	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540672702	chr9:140711772-140711773	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560305356	chr9:140711806-140711807	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577132601	chr9:140711807-140711808	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377299636	chr9:140711870-140711871	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112664025	chr9:140711876-140711877	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73578877	chr9:140711882-140711883	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs371179697	chr9:140711883-140711884	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560251933	chr9:140711893-140711894	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373174786	chr9:140711917-140711918	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142679858	chr9:140711942-140711943	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377123084	chr9:140711959-140711960	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369361505	chr9:140711980-140711981	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76109753	chr9:140711982-140711983	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367814560	chr9:140711984-140711985	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371622664	chr9:140711985-140711986	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563152525	chr9:140712005-140712006	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531989119	chr9:140712009-140712010	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373429494	chr9:140712025-140712026	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186132087	chr9:140712050-140712051	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562262967	chr9:140712083-140712084	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529775117	chr9:140712084-140712085	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149983654	chr9:140712092-140712093	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566380849	chr9:140712094-140712095	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532463862	chr9:140712125-140712126	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538608801	chr9:140712138-140712139	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111985511	chr9:140712166-140712167	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372143484	chr9:140712167-140712168	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117509378	chr9:140712168-140712169	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537704014	chr9:140712196-140712197	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544054213	chr9:140712199-140712200	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374109748	chr9:140712226-140712227	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs554343511	chr9:140712237-140712238	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs188986226	chr9:140712242-140712243	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs374930722	chr9:140712245-140712246	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs534047983	chr9:140712263-140712264	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs554223264	chr9:140712296-140712297	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs532973361	chr9:140712304-140712305	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs546216863	chr9:140712315-140712316	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs10283789	chr9:140712324-140712325	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs568716786	chr9:140712338-140712339	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs181612665	chr9:140712350-140712351	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:20)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140649800-140712400	Weak transcription	Psoas Muscle	Psoas
2	chr9:140690200-140711800	Weak transcription	NH-A	brain
3	chr9:140693200-140714600	Weak transcription	Right Atrium	heart
4	chr9:140699800-140719600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr9:140701000-140716400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:140701800-140712000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:140702000-140712200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:140702000-140713200	Strong transcription	Stomach Smooth Muscle	stomach
9	chr9:140702200-140711600	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr9:140702200-140711600	Strong transcription	Placenta	Placenta
11	chr9:140702200-140712000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:140702200-140716600	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr9:140702200-140717200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr9:140702400-140711600	Strong transcription	Lung	lung
15	chr9:140702400-140712400	Strong transcription	Liver	Liver
16	chr9:140702400-140712600	Strong transcription	Fetal Lung	lung
17	chr9:140702400-140713000	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr9:140702400-140713200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr9:140702400-140715000	Strong transcription	Gastric	stomach
20	chr9:140702600-140711800	Strong transcription	Aorta	Aorta
21	chr9:140702600-140712000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr9:140702600-140713000	Strong transcription	Duodenum Mucosa	Duodenum
23	chr9:140702600-140714600	Strong transcription	Right Ventricle	heart
24	chr9:140702800-140712200	Strong transcription	Primary T cells from cord blood	blood
25	chr9:140703000-140717000	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr9:140703600-140712200	Strong transcription	Spleen	Spleen
27	chr9:140703600-140713400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr9:140703800-140712600	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr9:140703800-140713400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:140704000-140711600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:140704000-140713200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr9:140705400-140715800	Strong transcription	Brain Germinal Matrix	brain
33	chr9:140705600-140712000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:140705600-140713000	Strong transcription	Dnd41	blood
35	chr9:140705600-140716800	Strong transcription	Primary B cells from peripheral blood	blood
36	chr9:140705600-140717000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr9:140705600-140717000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr9:140705600-140717000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr9:140705800-140711600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr9:140705800-140711800	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr9:140705800-140712000	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr9:140705800-140713000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
43	chr9:140705800-140713000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr9:140705800-140713000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:140705800-140713000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr9:140705800-140713000	Strong transcription	Brain Substantia Nigra	brain
47	chr9:140705800-140713000	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr9:140705800-140713000	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr9:140705800-140713200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr9:140705800-140713200	Strong transcription	Adipose Nuclei	Adipose

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