Variant report

Variant	nsv972969
Chromosome Location	chr11:107299401-107307004
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:107298284..107300612-chr11:107304027..107305588,2	K562	blood:
2	chr11:107297886..107300140-chr11:107301084..107303948,2	K562	blood:
3	chr11:107297886..107300140-chr11:107301084..107303948,2	K562	blood:
4	chr11:107294275..107298559-chr11:107301689..107304153,3	K562	blood:
5	chr11:107298284..107300612-chr11:107304027..107305588,2	K562	blood:
6	chr11:107292984..107295950-chr11:107297622..107299672,2	K562	blood:

Extended variants
information (count: 334 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:334 , 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	rs73549861	chr11:107299431-107299432	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576234764	chr11:107299504-107299505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547569130	chr11:107299529-107299530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536844866	chr11:107299539-107299540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200509385	chr11:107299542-107299543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576679420	chr11:107299549-107299550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540647484	chr11:107299550-107299551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144073973	chr11:107299598-107299599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35968518	chr11:107299623-107299624	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541935304	chr11:107299626-107299627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199676846	chr11:107299627-107299628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375383027	chr11:107299628-107299629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs659040	chr11:107299631-107299632	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs79735062	chr11:107299653-107299654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34087819	chr11:107299671-107299672	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs139311970	chr11:107299687-107299688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369773047	chr11:107299699-107299700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371866466	chr11:107299700-107299701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377101069	chr11:107299702-107299703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117094448	chr11:107299725-107299726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369813284	chr11:107299751-107299752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146066428	chr11:107299765-107299766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374567065	chr11:107299797-107299798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183721372	chr11:107299804-107299805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188530929	chr11:107299811-107299812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377368577	chr11:107299831-107299832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369104991	chr11:107299843-107299844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373338353	chr11:107299845-107299846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201959444	chr11:107299862-107299863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376346076	chr11:107299900-107299901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140038037	chr11:107299902-107299903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143466020	chr11:107299922-107299923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145664438	chr11:107299956-107299957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536850636	chr11:107299961-107299962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550302523	chr11:107299966-107299967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184997463	chr11:107299969-107299970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148454199	chr11:107299975-107299976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142616863	chr11:107300011-107300012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546669599	chr11:107300036-107300037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374180859	chr11:107300057-107300058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367678991	chr11:107300069-107300070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370351070	chr11:107300071-107300072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150946177	chr11:107300108-107300109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148810189	chr11:107300125-107300126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552824393	chr11:107300173-107300174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574419410	chr11:107300174-107300175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541448585	chr11:107300194-107300195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377341279	chr11:107300220-107300221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190242649	chr11:107300221-107300222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575224113	chr11:107300249-107300250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	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
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Obesity	19966786	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107241600-107327800	Weak transcription	HSMMtube	muscle
2	chr11:107252600-107323800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:107255000-107327600	Weak transcription	Fetal Heart	heart
4	chr11:107256600-107327600	Weak transcription	NHDF-Ad	bronchial
5	chr11:107258800-107324200	Weak transcription	Small Intestine	intestine
6	chr11:107259200-107299600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:107259600-107323400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:107261600-107310200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:107262200-107324000	Weak transcription	Pancreas	Pancrea
10	chr11:107263200-107309400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:107263200-107310200	Weak transcription	Psoas Muscle	Psoas
12	chr11:107263200-107310400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:107263600-107308200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:107263600-107309400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:107263600-107309400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr11:107263600-107310600	Weak transcription	Brain Angular Gyrus	brain
17	chr11:107268600-107312200	Weak transcription	K562	blood
18	chr11:107268600-107323400	Weak transcription	Gastric	stomach
19	chr11:107268800-107309400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:107268800-107309400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:107269000-107324600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:107269800-107299600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:107270000-107312400	Weak transcription	Brain Germinal Matrix	brain
24	chr11:107272600-107312600	Weak transcription	Fetal Brain Female	brain
25	chr11:107274400-107312600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:107274600-107308800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:107274600-107312600	Weak transcription	Lung	lung
28	chr11:107274600-107323400	Weak transcription	Esophagus	oesophagus
29	chr11:107275400-107309400	Weak transcription	Fetal Stomach	stomach
30	chr11:107275400-107309400	Weak transcription	Right Ventricle	heart
31	chr11:107275400-107309400	Weak transcription	Spleen	Spleen
32	chr11:107275600-107314800	Weak transcription	NHEK	skin
33	chr11:107275800-107309400	Weak transcription	Thymus	Thymus
34	chr11:107278000-107309400	Weak transcription	HUVEC	blood vessel
35	chr11:107281200-107308800	Weak transcription	Brain Anterior Caudate	brain
36	chr11:107281600-107308600	Weak transcription	Fetal Intestine Large	intestine
37	chr11:107281800-107309400	Weak transcription	Fetal Intestine Small	intestine
38	chr11:107282000-107309400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr11:107284400-107299600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr11:107284400-107309400	Weak transcription	Aorta	Aorta
41	chr11:107284400-107309400	Weak transcription	Ovary	ovary
42	chr11:107284400-107309600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr11:107284800-107308600	Weak transcription	GM12878-XiMat	blood
44	chr11:107284800-107309400	Weak transcription	Brain Hippocampus Middle	brain
45	chr11:107286200-107308600	Weak transcription	Placenta	Placenta
46	chr11:107286600-107309400	Weak transcription	Left Ventricle	heart
47	chr11:107286600-107322800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr11:107286800-107309400	Weak transcription	Fetal Muscle Leg	muscle
49	chr11:107288400-107299600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:107288400-107302400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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