Variant report

Variant	nsv525639
Chromosome Location	chr11:93406063-93411153
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93410711..93413098-chr11:93461356..93464039,2	K562	blood:
2	chr11:93408933..93411947-chr11:93412897..93417212,4	K562	blood:
3	chr11:93403553..93406233-chr11:93412548..93415297,2	K562	blood:
4	chr11:93411054..93413899-chr11:93422766..93424907,2	K562	blood:

Variant related genes	Relation type
ENSG00000166004	chromatin interactions
ENSG00000207112	chromatin interactions

Extended variants
information (count: 181 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17650369	chr11:93406063-93406064	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537463869	chr11:93406098-93406099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4753096	chr11:93406115-93406116	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs572079877	chr11:93406140-93406141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4753490	chr11:93406147-93406148	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs372760069	chr11:93406177-93406178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558013369	chr11:93406239-93406240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576721535	chr11:93406243-93406244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543647131	chr11:93406261-93406262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575346960	chr11:93406265-93406266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562269075	chr11:93406274-93406275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10831085	chr11:93406282-93406283	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs10831086	chr11:93406365-93406366	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs560308661	chr11:93406404-93406405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374128460	chr11:93406406-93406407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141617514	chr11:93406429-93406430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552232150	chr11:93406470-93406471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564367642	chr11:93406486-93406487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369393417	chr11:93406528-93406529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150493936	chr11:93406578-93406579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537642169	chr11:93406609-93406610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549813558	chr11:93406617-93406618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533249975	chr11:93406647-93406648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535311829	chr11:93406705-93406706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540267890	chr11:93406708-93406709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181305161	chr11:93406709-93406710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185038935	chr11:93406712-93406713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565869222	chr11:93406729-93406730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61597860	chr11:93406746-93406747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539446144	chr11:93406749-93406750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10765625	chr11:93406763-93406764	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs190800192	chr11:93406769-93406770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537702930	chr11:93406855-93406856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555810886	chr11:93406871-93406872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372772082	chr11:93406912-93406913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10831087	chr11:93406950-93406951	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs541682262	chr11:93406977-93406978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143996510	chr11:93406979-93406980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35136327	chr11:93406993-93406994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572214926	chr11:93407005-93407006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11020476	chr11:93407014-93407015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34110461	chr11:93407109-93407110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs398115649	chr11:93407115-93407116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112349226	chr11:93407116-93407117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113074303	chr11:93407117-93407118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146172542	chr11:93407118-93407119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201269222	chr11:93407119-93407120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370065262	chr11:93407136-93407137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183899203	chr11:93407157-93407158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531208559	chr11:93407215-93407216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:220 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93395400-93406400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:93395400-93406800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:93395400-93406800	Weak transcription	Lung	lung
4	chr11:93395400-93412200	Weak transcription	Gastric	stomach
5	chr11:93395400-93412200	Weak transcription	Pancreas	Pancrea
6	chr11:93395400-93417800	Weak transcription	Small Intestine	intestine
7	chr11:93395600-93408200	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:93395600-93411800	Weak transcription	Aorta	Aorta
9	chr11:93395600-93412200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:93395600-93412400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr11:93395600-93412600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:93395600-93412600	Weak transcription	Colonic Mucosa	Colon
13	chr11:93395600-93417400	Weak transcription	Stomach Mucosa	stomach
14	chr11:93395600-93446800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr11:93395800-93411800	Weak transcription	HSMMtube	muscle
16	chr11:93395800-93412200	Weak transcription	Thymus	Thymus
17	chr11:93395800-93413200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:93395800-93413400	Weak transcription	Right Ventricle	heart
19	chr11:93395800-93415800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:93396200-93411800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:93396400-93406400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:93396400-93410400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:93396400-93412200	Weak transcription	Brain Angular Gyrus	brain
24	chr11:93396400-93417600	Weak transcription	Fetal Heart	heart
25	chr11:93396600-93407200	Weak transcription	Spleen	Spleen
26	chr11:93396600-93412000	Weak transcription	Psoas Muscle	Psoas
27	chr11:93396600-93413200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:93396600-93417600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr11:93396800-93412600	Weak transcription	A549	lung
30	chr11:93396800-93413200	Weak transcription	NHLF	lung
31	chr11:93396800-93415200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr11:93397400-93441400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr11:93397600-93409600	Strong transcription	K562	blood
34	chr11:93397600-93416400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:93397600-93441000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:93397800-93408000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:93397800-93416200	Weak transcription	Fetal Brain Male	brain
38	chr11:93398000-93426200	Strong transcription	Hela-S3	cervix
39	chr11:93398400-93408600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:93398600-93426000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:93398800-93406800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:93398800-93414000	Strong transcription	Fetal Thymus	thymus
43	chr11:93398800-93440800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:93398800-93442200	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:93398800-93443200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:93399000-93426200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr11:93399000-93426200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:93399200-93439800	Strong transcription	Dnd41	blood
49	chr11:93399600-93414800	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr11:93399600-93415400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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