Variant report

Variant	esv2441718
Chromosome Location	chr11:9433000-9434204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9286000..9287603-chr11:9432684..9435250,2	K562	blood:
2	chr11:9434001..9435891-chr11:9461817..9464038,2	K562	blood:
3	chr11:9425009..9427171-chr11:9432321..9434699,2	MCF-7	breast:
4	chr11:9429811..9433973-chr11:9481355..9484368,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184014	chromatin interactions
ENSG00000268403	chromatin interactions
ENSG00000166478	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575416090	chr11:9433008-9433009	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs566841919	chr11:9433030-9433031	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs112864855	chr11:9433035-9433036	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs564219167	chr11:9433089-9433090	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs77948613	chr11:9433106-9433107	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs16906804	chr11:9433118-9433119	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs575422527	chr11:9433191-9433192	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs560181382	chr11:9433235-9433236	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs181400194	chr11:9433241-9433242	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs200086702	chr11:9433242-9433243	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs557835423	chr11:9433262-9433263	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs569423401	chr11:9433275-9433276	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs138936143	chr11:9433293-9433294	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs373856656	chr11:9433340-9433341	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs367672468	chr11:9433387-9433388	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs577624737	chr11:9433457-9433458	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs551635546	chr11:9433469-9433470	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs571760213	chr11:9433475-9433476	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs186597440	chr11:9433476-9433477	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs376986162	chr11:9433494-9433495	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs372725744	chr11:9433512-9433513	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs375797912	chr11:9433569-9433570	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs372428917	chr11:9433590-9433591	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs529739989	chr11:9433620-9433621	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs201266687	chr11:9433624-9433625	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs573675421	chr11:9433654-9433655	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs536214459	chr11:9433672-9433673	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs560162614	chr11:9433678-9433679	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs113253974	chr11:9433911-9433912	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs190584689	chr11:9433929-9433930	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs4910465	chr11:9433939-9433940	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs564126345	chr11:9433951-9433952	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs181617178	chr11:9433979-9433980	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs573159303	chr11:9434018-9434019	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs186184778	chr11:9434035-9434036	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs528918922	chr11:9434045-9434046	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs548957983	chr11:9434069-9434070	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs563198179	chr11:9434148-9434149	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs531909354	chr11:9434150-9434151	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs191039861	chr11:9434175-9434176	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs182187903	chr11:9434180-9434181	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs372712767	chr11:9434204-9434205	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9407600-9442000	Weak transcription	Fetal Brain Male	brain
2	chr11:9407600-9464000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:9416000-9456000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:9419200-9446600	Weak transcription	Small Intestine	intestine
5	chr11:9419600-9471000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:9419800-9444200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr11:9420000-9440200	Weak transcription	Fetal Kidney	kidney
8	chr11:9420600-9442000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:9420600-9450400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:9421000-9471200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:9421600-9436400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr11:9423000-9470400	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:9424200-9470400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr11:9424800-9437800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:9424800-9438200	Strong transcription	Fetal Thymus	thymus
16	chr11:9424800-9438200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:9424800-9468600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:9424800-9469000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:9424800-9470600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:9425000-9434000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr11:9425000-9468200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr11:9425000-9468400	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr11:9425200-9467200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:9425400-9438800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:9425600-9446800	Weak transcription	Colonic Mucosa	Colon
26	chr11:9425800-9468000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:9426200-9471600	Strong transcription	Dnd41	blood
28	chr11:9426400-9443000	Strong transcription	Hela-S3	cervix
29	chr11:9426800-9437800	Strong transcription	HepG2	liver
30	chr11:9426800-9468400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr11:9426800-9470600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:9427000-9433200	Strong transcription	HSMM	muscle
33	chr11:9427000-9433400	Strong transcription	Osteobl	bone
34	chr11:9427200-9466800	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr11:9427600-9471000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:9428200-9433400	Strong transcription	HMEC	breast
37	chr11:9428800-9435800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:9429400-9433800	Strong transcription	K562	blood
39	chr11:9429600-9433400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:9429800-9433200	Strong transcription	GM12878-XiMat	blood
41	chr11:9429800-9433600	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr11:9429800-9434200	Strong transcription	Liver	Liver
43	chr11:9429800-9437600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr11:9429800-9443000	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr11:9429800-9469000	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:9430000-9433600	Strong transcription	Primary hematopoietic stem cells	blood
47	chr11:9430000-9433600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:9430000-9434000	Strong transcription	NHEK	skin
49	chr11:9430000-9438800	Strong transcription	Placenta	Placenta
50	chr11:9430200-9437200	Strong transcription	Fetal Muscle Leg	muscle

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