Variant report

Variant	esv3511643
Chromosome Location	chr11:9502176-9510124
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9498298..9500683-chr11:9505385..9507215,2	K562	blood:
2	chr11:9496196..9499185-chr11:9501862..9504317,2	K562	blood:
3	chr11:9481104..9483094-chr11:9498453..9502182,4	K562	blood:
4	chr11:9334375..9337218-chr11:9507648..9509638,2	K562	blood:

Variant related genes	Relation type
ENSG00000166471	chromatin interactions
ENSG00000268403	chromatin interactions
ENSG00000166478	chromatin interactions

Extended variants
information (count: 401 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144508178	chr11:9502203-9502204	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191292238	chr11:9502282-9502283	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12285570	chr11:9502284-9502285	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs550727452	chr11:9502289-9502290	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545031781	chr11:9502318-9502319	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111452962	chr11:9502349-9502350	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533026845	chr11:9502388-9502389	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540427389	chr11:9502406-9502407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532773149	chr11:9502410-9502411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76512000	chr11:9502432-9502433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79593405	chr11:9502433-9502434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs80327318	chr11:9502434-9502435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117931028	chr11:9502440-9502441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57196274	chr11:9502445-9502446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552681902	chr11:9502446-9502447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181349779	chr11:9502453-9502454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111741273	chr11:9502478-9502479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548661259	chr11:9502479-9502480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149914086	chr11:9502480-9502481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185810541	chr11:9502495-9502496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190598483	chr11:9502562-9502563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2313091	chr11:9502573-9502574	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs534479983	chr11:9502584-9502585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548283236	chr11:9502585-9502586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2313090	chr11:9502592-9502593	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs574280717	chr11:9502593-9502594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144956595	chr11:9502594-9502595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529580295	chr11:9502616-9502617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566674547	chr11:9502661-9502662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533932661	chr11:9502688-9502689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75158947	chr11:9502700-9502701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183194790	chr11:9502744-9502745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149052260	chr11:9502746-9502747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577546695	chr11:9502788-9502789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557056389	chr11:9502858-9502859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187695451	chr11:9502860-9502861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143030888	chr11:9502992-9502993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562876930	chr11:9503006-9503007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138508759	chr11:9503007-9503008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79337834	chr11:9503015-9503016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191989388	chr11:9503059-9503060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115718309	chr11:9503078-9503079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539265745	chr11:9503233-9503234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531275396	chr11:9503305-9503306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141473466	chr11:9503307-9503308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571241716	chr11:9503332-9503333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528038926	chr11:9503339-9503340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111411191	chr11:9503400-9503401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
49	rs374206045	chr11:9503432-9503433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572870014	chr11:9503433-9503434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9483600-9518600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:9484600-9544800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:9485200-9520000	Weak transcription	Stomach Mucosa	stomach
4	chr11:9489600-9524000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:9489800-9523400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr11:9491400-9506200	Strong transcription	Liver	Liver
7	chr11:9491400-9525400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:9491400-9551600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:9491600-9502600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:9492000-9506000	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:9492000-9527200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:9492200-9503000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:9492200-9525400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:9492600-9502800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:9492600-9505800	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr11:9492800-9507800	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:9492800-9527800	Strong transcription	Fetal Stomach	stomach
18	chr11:9493200-9503200	Strong transcription	Placenta	Placenta
19	chr11:9493200-9506600	Strong transcription	Fetal Intestine Small	intestine
20	chr11:9493400-9503000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:9495400-9503600	Strong transcription	Brain Germinal Matrix	brain
22	chr11:9495600-9525400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:9495800-9505800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:9496200-9520000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:9496200-9522600	Weak transcription	Fetal Heart	heart
26	chr11:9496600-9507000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:9496600-9516000	Weak transcription	Fetal Brain Male	brain
28	chr11:9496600-9517000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:9496600-9528200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:9496800-9503000	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:9497400-9517400	Weak transcription	Small Intestine	intestine
32	chr11:9498600-9503200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:9498600-9503400	Strong transcription	Stomach Smooth Muscle	stomach
34	chr11:9498800-9503000	Strong transcription	Primary B cells from cord blood	blood
35	chr11:9498800-9505600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:9498800-9506200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr11:9499000-9503000	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:9499000-9503200	Strong transcription	Primary T cells from cord blood	blood
39	chr11:9499200-9502800	Strong transcription	Dnd41	blood
40	chr11:9499200-9503000	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:9499200-9503200	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr11:9499200-9503200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:9499200-9503200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr11:9499200-9503400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:9499200-9503600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr11:9499200-9504800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:9499200-9504800	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr11:9499200-9505800	Strong transcription	Adipose Nuclei	Adipose
49	chr11:9499200-9506000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:9499200-9506200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links