Variant report

Variant	nsv555608
Chromosome Location	chr11:83633189-83651102
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:17230207..17233001-chr11:83646156..83647676,2	K562	blood:
2	chr1:17231501..17233018-chr11:83646156..83647676,2	K562	blood:
3	chr1:17231273..17231972-chr11:83647156..83648176,4	Hela-S3	cervix:
4	chr11:83629933..83631663-chr11:83638370..83639939,2	K562	blood:

Variant related genes	Relation type
ENSG00000272426	chromatin interactions

Extended variants
information (count: 731 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:731 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs790377	chr11:83633189-83633190	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565216663	chr11:83633205-83633206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532321420	chr11:83633206-83633207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547583564	chr11:83633220-83633221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565894154	chr11:83633237-83633238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547284431	chr11:83633281-83633282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549503519	chr11:83633290-83633291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34420686	chr11:83633303-83633304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs790378	chr11:83633318-83633319	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs538272663	chr11:83633323-83633324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34642240	chr11:83633343-83633344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111551708	chr11:83633358-83633359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201623489	chr11:83633437-83633438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1400312	chr11:83633441-83633442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200026561	chr11:83633444-83633445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538964219	chr11:83633497-83633498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141592166	chr11:83633501-83633502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532822037	chr11:83633555-83633556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551176542	chr11:83633577-83633578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186745255	chr11:83633588-83633589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113349649	chr11:83633633-83633634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191551638	chr11:83633650-83633651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575929712	chr11:83633654-83633655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78625705	chr11:83633657-83633658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564748007	chr11:83633684-83633685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532411776	chr11:83633698-83633699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149617123	chr11:83633699-83633700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559585540	chr11:83633705-83633706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184825826	chr11:83633713-83633714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs790379	chr11:83633736-83633737	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs555667094	chr11:83633830-83633831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370919959	chr11:83633834-83633835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550115609	chr11:83633903-83633904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113211645	chr11:83633906-83633907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375023016	chr11:83633930-83633931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370946691	chr11:83633946-83633947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554089900	chr11:83633949-83633950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567539546	chr11:83634002-83634003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565925738	chr11:83634029-83634030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376515550	chr11:83634030-83634031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565835273	chr11:83634049-83634050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs790380	chr11:83634051-83634052	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs543166015	chr11:83634063-83634064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201322211	chr11:83634121-83634122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75195139	chr11:83634176-83634177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190472070	chr11:83634196-83634197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs969968	chr11:83634230-83634231	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs559721179	chr11:83634243-83634244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529894132	chr11:83634313-83634314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117577829	chr11:83634319-83634320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	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
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	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
Cancer	20164920	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83608400-83634600	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:83618200-83641200	Weak transcription	Brain Anterior Caudate	brain
3	chr11:83623200-83635800	Weak transcription	Brain Substantia Nigra	brain
4	chr11:83624600-83636000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:83629800-83634200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:83629800-83661800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:83630200-83643200	Weak transcription	Brain Angular Gyrus	brain
8	chr11:83630400-83633400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:83630400-83633400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:83633000-83636800	Enhancers	Liver	Liver
11	chr11:83633400-83633800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:83633400-83634600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:83634200-83634600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr11:83634600-83635400	Enhancers	Brain Hippocampus Middle	brain
15	chr11:83634600-83649400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:83634800-83635200	Enhancers	Fetal Kidney	kidney
17	chr11:83635400-83638600	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:83635800-83636200	Enhancers	Brain Substantia Nigra	brain
19	chr11:83636000-83636600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:83636200-83644200	Weak transcription	Brain Substantia Nigra	brain
21	chr11:83636600-83642600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:83637200-83637400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:83637400-83638800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:83638600-83639400	Strong transcription	Brain Hippocampus Middle	brain
25	chr11:83638800-83639000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:83638800-83641400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:83639000-83639400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:83639400-83641200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:83639400-83649600	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:83639600-83642800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:83639600-83659400	Weak transcription	Ovary	ovary
32	chr11:83640200-83642600	Weak transcription	Left Ventricle	heart
33	chr11:83640200-83644000	Weak transcription	Brain Germinal Matrix	brain
34	chr11:83641000-83641200	Weak transcription	Aorta	Aorta
35	chr11:83641200-83641400	ZNF genes & repeats	Pancreas	Pancrea
36	chr11:83641200-83641600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:83641200-83641800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:83641200-83642000	Strong transcription	Brain Anterior Caudate	brain
39	chr11:83641600-83642400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:83641600-83642400	Weak transcription	Aorta	Aorta
41	chr11:83642000-83643600	Weak transcription	Brain Anterior Caudate	brain
42	chr11:83643800-83644400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:83644000-83645600	Enhancers	Brain Germinal Matrix	brain
44	chr11:83644200-83644400	Enhancers	Brain Substantia Nigra	brain
45	chr11:83649200-83649800	Enhancers	GM12878-XiMat	blood
46	chr11:83649200-83662400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:83649400-83650000	Enhancers	Liver	Liver
48	chr11:83649400-83650400	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr11:83649600-83649800	Enhancers	Brain Hippocampus Middle	brain
50	chr11:83649800-83650200	Weak transcription	Brain Hippocampus Middle	brain

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