Variant report

Variant	esv3330179
Chromosome Location	chr9:140672131-140676929
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:140667645..140669335-chr9:140669650..140672274,2	K562	blood:
2	chr9:140667022..140668743-chr9:140670497..140672972,3	MCF-7	breast:
3	chr9:140672962..140675618-chr9:140678748..140680768,2	K562	blood:
4	chr9:140675774..140679711-chr9:140680099..140683198,4	K562	blood:

Variant related genes	Relation type
ENSG00000255585	chromatin interactions

Extended variants
information (count: 337 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533015506	chr9:140672131-140672132	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549604091	chr9:140672152-140672153	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17064836	chr9:140672197-140672198	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs11137222	chr9:140672257-140672258	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7853060	chr9:140672260-140672261	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs79442669	chr9:140672278-140672279	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375241298	chr9:140672289-140672290	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369460318	chr9:140672293-140672294	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73576128	chr9:140672294-140672295	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs372028424	chr9:140672295-140672296	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375387606	chr9:140672300-140672301	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557828001	chr9:140672308-140672309	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs578226637	chr9:140672314-140672315	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181972681	chr9:140672316-140672317	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375371535	chr9:140672317-140672318	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367662089	chr9:140672340-140672341	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs137852719	chr9:140672344-140672345	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574272450	chr9:140672350-140672351	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147523309	chr9:140672354-140672355	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150451099	chr9:140672355-140672356	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527346049	chr9:140672388-140672389	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548142464	chr9:140672394-140672395	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541029293	chr9:140672400-140672401	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371829525	chr9:140672408-140672409	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141689686	chr9:140672411-140672412	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150501660	chr9:140672442-140672443	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs398124403	chr9:140672443-140672444	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533103106	chr9:140672475-140672476	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527754873	chr9:140672490-140672491	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377163037	chr9:140672496-140672497	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs398124404	chr9:140672501-140672502	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369947749	chr9:140672536-140672537	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371890129	chr9:140672538-140672539	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369778034	chr9:140672545-140672546	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548859248	chr9:140672551-140672552	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116443577	chr9:140672555-140672556	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373228590	chr9:140672564-140672565	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376694474	chr9:140672565-140672566	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145281465	chr9:140672573-140672574	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569904009	chr9:140672580-140672581	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537778821	chr9:140672622-140672623	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557705669	chr9:140672635-140672636	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371267558	chr9:140672673-140672674	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574358087	chr9:140672675-140672676	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112598970	chr9:140672685-140672686	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536838258	chr9:140672694-140672695	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553248550	chr9:140672700-140672701	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572143747	chr9:140672701-140672702	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74772676	chr9:140672750-140672751	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186146931	chr9:140672773-140672774	Strong transcription Weak 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:262 , 50 per page) page: 1 2 3 4 5 6

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	chr9:140650400-140673400	Weak transcription	Fetal Brain Male	brain
8	chr9:140652000-140673400	Weak transcription	Fetal Heart	heart
9	chr9:140652200-140676600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr9:140657400-140673000	Strong transcription	A549	lung
11	chr9:140657400-140674400	Strong transcription	Fetal Thymus	thymus
12	chr9:140657400-140677800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:140658200-140674800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr9:140659000-140683600	Strong transcription	Liver	Liver
15	chr9:140663800-140674400	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr9:140663800-140674800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr9:140663800-140674800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr9:140663800-140680400	Strong transcription	Adipose Nuclei	Adipose
19	chr9:140663800-140682000	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr9:140663800-140683000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr9:140664000-140674600	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr9:140664000-140674800	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr9:140664000-140683000	Strong transcription	Stomach Smooth Muscle	stomach
24	chr9:140664200-140674400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:140664200-140674800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:140664200-140681000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr9:140664200-140682600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr9:140664200-140698600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr9:140664200-140701000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr9:140664400-140674800	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr9:140664600-140679000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:140664600-140708000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:140664800-140674600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:140664800-140678600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr9:140664800-140700000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr9:140665000-140674200	Strong transcription	Rectal Smooth Muscle	rectum
37	chr9:140665000-140681600	Strong transcription	Primary hematopoietic stem cells	blood
38	chr9:140665000-140700000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr9:140665200-140674400	Strong transcription	Colonic Mucosa	Colon
40	chr9:140665200-140674400	Strong transcription	GM12878-XiMat	blood
41	chr9:140665200-140679200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr9:140665200-140702000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:140665400-140675000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr9:140665400-140679400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr9:140665400-140682800	Strong transcription	Fetal Intestine Small	intestine
46	chr9:140665400-140697800	Strong transcription	Thymus	Thymus
47	chr9:140665400-140700800	Strong transcription	Fetal Stomach	stomach
48	chr9:140665600-140679800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr9:140666000-140672800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr9:140666000-140675000	Weak transcription	Fetal Kidney	kidney

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