Variant report

Variant	esv3325303
Chromosome Location	chr9:140673531-140676129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:140672962..140675618-chr9:140678748..140680768,2	K562	blood:
2	chr9:140675774..140679711-chr9:140680099..140683198,4	K562	blood:

Variant related genes	Relation type
ENSG00000255585	chromatin interactions

Extended variants
information (count: 226 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:226 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74889384	chr9:140673554-140673555	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542537796	chr9:140673556-140673557	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191581537	chr9:140673557-140673558	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182609720	chr9:140673613-140673614	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs11137223	chr9:140673666-140673667	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs79353591	chr9:140673699-140673700	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs551033628	chr9:140673707-140673708	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs11137224	chr9:140673726-140673727	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs567660089	chr9:140673739-140673740	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs530451499	chr9:140673740-140673741	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs138795995	chr9:140673779-140673780	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs142687585	chr9:140673795-140673796	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs185418313	chr9:140673797-140673798	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs368273122	chr9:140673808-140673809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189725919	chr9:140673830-140673831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73576187	chr9:140673835-140673836	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs536746840	chr9:140673844-140673845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556568813	chr9:140673857-140673858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573543564	chr9:140673867-140673868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542577991	chr9:140673879-140673880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553017240	chr9:140673925-140673926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144913518	chr9:140673929-140673930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138751797	chr9:140673930-140673931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565062079	chr9:140673933-140673934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183417248	chr9:140673940-140673941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544693842	chr9:140673969-140673970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577367338	chr9:140673970-140673971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141286527	chr9:140673971-140673972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188903851	chr9:140673972-140673973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546944622	chr9:140673976-140673977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567055104	chr9:140673991-140673992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532831110	chr9:140674001-140674002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552400815	chr9:140674006-140674007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569088007	chr9:140674023-140674024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570735857	chr9:140674024-140674025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369675409	chr9:140674044-140674045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373334305	chr9:140674070-140674071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376105503	chr9:140674077-140674078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs137852720	chr9:140674086-140674087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192912701	chr9:140674129-140674130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112691742	chr9:140674149-140674150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368817518	chr9:140674154-140674155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372556737	chr9:140674185-140674186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567329830	chr9:140674190-140674191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535875961	chr9:140674237-140674238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374370847	chr9:140674261-140674262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552889792	chr9:140674267-140674268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183855767	chr9:140674315-140674316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545317060	chr9:140674364-140674365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188344765	chr9:140674365-140674366	Weak transcription Strong transcription	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:238 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140640200-140674800	Strong transcription	HUES48 Cell Line	embryonic stem cell
2	chr9:140649800-140712400	Weak transcription	Psoas Muscle	Psoas
3	chr9:140650000-140679200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:140650200-140678800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr9:140650200-140682600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr9:140650200-140700000	Strong transcription	Primary T cells from cord blood	blood
7	chr9:140652200-140676600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr9:140657400-140674400	Strong transcription	Fetal Thymus	thymus
9	chr9:140657400-140677800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:140658200-140674800	Strong transcription	Primary B cells from peripheral blood	blood
11	chr9:140659000-140683600	Strong transcription	Liver	Liver
12	chr9:140663800-140674400	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr9:140663800-140674800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr9:140663800-140674800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr9:140663800-140680400	Strong transcription	Adipose Nuclei	Adipose
16	chr9:140663800-140682000	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr9:140663800-140683000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr9:140664000-140674600	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr9:140664000-140674800	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr9:140664000-140683000	Strong transcription	Stomach Smooth Muscle	stomach
21	chr9:140664200-140674400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:140664200-140674800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr9:140664200-140681000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr9:140664200-140682600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr9:140664200-140698600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr9:140664200-140701000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr9:140664400-140674800	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr9:140664600-140679000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:140664600-140708000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr9:140664800-140674600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:140664800-140678600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr9:140664800-140700000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr9:140665000-140674200	Strong transcription	Rectal Smooth Muscle	rectum
34	chr9:140665000-140681600	Strong transcription	Primary hematopoietic stem cells	blood
35	chr9:140665000-140700000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr9:140665200-140674400	Strong transcription	Colonic Mucosa	Colon
37	chr9:140665200-140674400	Strong transcription	GM12878-XiMat	blood
38	chr9:140665200-140679200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr9:140665200-140702000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr9:140665400-140675000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr9:140665400-140679400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:140665400-140682800	Strong transcription	Fetal Intestine Small	intestine
43	chr9:140665400-140697800	Strong transcription	Thymus	Thymus
44	chr9:140665400-140700800	Strong transcription	Fetal Stomach	stomach
45	chr9:140665600-140679800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:140666000-140675000	Weak transcription	Fetal Kidney	kidney
47	chr9:140666200-140682200	Strong transcription	Lung	lung
48	chr9:140666600-140674600	Strong transcription	Fetal Muscle Trunk	muscle
49	chr9:140666600-140682000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr9:140666800-140674800	Strong transcription	Fetal Intestine Large	intestine

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