Variant report

Variant	esv2486941
Chromosome Location	chr11:9502781-9509444
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	chr11:9334375..9337218-chr11:9507648..9509638,2	K562	blood:
3	chr11:9496196..9499185-chr11:9501862..9504317,2	K562	blood:

Variant related genes	Relation type
ENSG00000166471	chromatin interactions

Extended variants
information (count: 341 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:341 , 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	rs577546695	chr11:9502788-9502789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557056389	chr11:9502858-9502859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187695451	chr11:9502860-9502861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143030888	chr11:9502992-9502993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562876930	chr11:9503006-9503007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138508759	chr11:9503007-9503008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79337834	chr11:9503015-9503016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191989388	chr11:9503059-9503060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115718309	chr11:9503078-9503079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539265745	chr11:9503233-9503234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531275396	chr11:9503305-9503306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141473466	chr11:9503307-9503308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571241716	chr11:9503332-9503333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528038926	chr11:9503339-9503340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111411191	chr11:9503400-9503401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
16	rs374206045	chr11:9503432-9503433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572870014	chr11:9503433-9503434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72852991	chr11:9503449-9503450	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs187662336	chr11:9503466-9503467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192766236	chr11:9503489-9503490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113959257	chr11:9503491-9503492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183942632	chr11:9503494-9503495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538740591	chr11:9503505-9503506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71034714	chr11:9503521-9503522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12807142	chr11:9503522-9503523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs398015316	chr11:9503535-9503536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113262182	chr11:9503550-9503551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187172892	chr11:9503556-9503557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572102387	chr11:9503611-9503612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12280819	chr11:9503618-9503619	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs540989467	chr11:9503662-9503663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575337700	chr11:9503666-9503667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12293634	chr11:9503679-9503680	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs564183064	chr11:9503710-9503711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532694434	chr11:9503722-9503723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12289062	chr11:9503759-9503760	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs559939108	chr11:9503767-9503768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12289117	chr11:9503768-9503769	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs12289121	chr11:9503772-9503773	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs12287703	chr11:9503778-9503779	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs544774160	chr11:9503817-9503818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184346053	chr11:9503840-9503841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564913523	chr11:9503856-9503857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527291891	chr11:9503880-9503881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530829043	chr11:9503887-9503888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567981334	chr11:9503919-9503920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189085985	chr11:9503937-9503938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181030466	chr11:9503993-9503994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185689210	chr11:9504050-9504051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138218795	chr11:9504052-9504053	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:347 , 50 per page) page: 1 2 3 4 5 6 7

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	chr11:9492000-9506000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr11:9492000-9527200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:9492200-9503000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:9492200-9525400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:9492600-9502800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:9492600-9505800	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:9492800-9507800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:9492800-9527800	Strong transcription	Fetal Stomach	stomach
17	chr11:9493200-9503200	Strong transcription	Placenta	Placenta
18	chr11:9493200-9506600	Strong transcription	Fetal Intestine Small	intestine
19	chr11:9493400-9503000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:9495400-9503600	Strong transcription	Brain Germinal Matrix	brain
21	chr11:9495600-9525400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:9495800-9505800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:9496200-9520000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr11:9496200-9522600	Weak transcription	Fetal Heart	heart
25	chr11:9496600-9507000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:9496600-9516000	Weak transcription	Fetal Brain Male	brain
27	chr11:9496600-9517000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:9496600-9528200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:9496800-9503000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:9497400-9517400	Weak transcription	Small Intestine	intestine
31	chr11:9498600-9503200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:9498600-9503400	Strong transcription	Stomach Smooth Muscle	stomach
33	chr11:9498800-9503000	Strong transcription	Primary B cells from cord blood	blood
34	chr11:9498800-9505600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:9498800-9506200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:9499000-9503000	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:9499000-9503200	Strong transcription	Primary T cells from cord blood	blood
38	chr11:9499200-9502800	Strong transcription	Dnd41	blood
39	chr11:9499200-9503000	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:9499200-9503200	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr11:9499200-9503200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:9499200-9503200	Strong transcription	Duodenum Mucosa	Duodenum
43	chr11:9499200-9503400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:9499200-9503600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr11:9499200-9504800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:9499200-9504800	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr11:9499200-9505800	Strong transcription	Adipose Nuclei	Adipose
48	chr11:9499200-9506000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:9499200-9506200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:9499200-9507800	Strong transcription	Fetal Muscle Trunk	muscle

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