Variant report

Variant	nsv39083
Chromosome Location	chr11:108786697-108792970
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108791030..108793676-chr11:108795093..108797855,3	K562	blood:
2	chr11:108791917..108793676-chr11:108795093..108797181,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATM-4	chr11:108788600-108788651	NONHSAT024042

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	DDX10	hsa-let-7b-5p	chr11:108790698-108790721
2	DDX10	hsa-miR-155-5p	chr11:108791003-108791025

Extended variants
information (count: 240 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:240 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538107931	chr11:108786777-108786778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556203090	chr11:108786795-108786796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569182632	chr11:108786884-108786885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147399174	chr11:108786928-108786929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558274383	chr11:108786955-108786956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376373268	chr11:108786956-108786957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181387221	chr11:108787000-108787001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554843299	chr11:108787015-108787016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373459404	chr11:108787035-108787036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139701690	chr11:108787088-108787089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186908115	chr11:108787106-108787107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574169247	chr11:108787151-108787152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs890238	chr11:108787170-108787171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563044620	chr11:108787177-108787178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184048093	chr11:108787198-108787199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574031762	chr11:108787199-108787200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74400616	chr11:108787221-108787222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559814653	chr11:108787248-108787249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147653244	chr11:108787283-108787284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142276696	chr11:108787296-108787297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562509655	chr11:108787310-108787311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142039546	chr11:108787335-108787336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186085476	chr11:108787367-108787368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs151147227	chr11:108787384-108787385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571490979	chr11:108787392-108787393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539838553	chr11:108787417-108787418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558211210	chr11:108787425-108787426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566954504	chr11:108787437-108787438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190936130	chr11:108787442-108787443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555603211	chr11:108787443-108787444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574132745	chr11:108787452-108787453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538066779	chr11:108787457-108787458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558904922	chr11:108787460-108787461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs578262662	chr11:108787461-108787462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182084252	chr11:108787518-108787519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140162829	chr11:108787524-108787525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571057694	chr11:108787536-108787537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542266930	chr11:108787569-108787570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560827492	chr11:108787596-108787597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113731729	chr11:108787605-108787606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150330384	chr11:108787609-108787610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549756019	chr11:108787650-108787651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565164527	chr11:108787659-108787660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186719262	chr11:108787748-108787749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547729830	chr11:108787753-108787754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192866742	chr11:108787782-108787783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115278274	chr11:108787825-108787826	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549417535	chr11:108787914-108787915	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567697322	chr11:108787931-108787932	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528033758	chr11:108787992-108787993	Weak transcription Enhancers 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
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
Chronic lymphocytic leukemia	21546498	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
Chronic lymphocytic leukemia	22228453	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108728400-108810600	Weak transcription	Left Ventricle	heart
2	chr11:108763000-108797600	Weak transcription	Fetal Muscle Leg	muscle
3	chr11:108768000-108810600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:108769000-108791200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:108769200-108788600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr11:108769800-108789600	Weak transcription	Primary B cells from cord blood	blood
7	chr11:108775000-108794400	Weak transcription	Aorta	Aorta
8	chr11:108777200-108797000	Weak transcription	Psoas Muscle	Psoas
9	chr11:108777800-108786800	Weak transcription	NHEK	skin
10	chr11:108778000-108786800	Weak transcription	NHDF-Ad	bronchial
11	chr11:108778000-108799600	Weak transcription	HMEC	breast
12	chr11:108778200-108810600	Weak transcription	Ovary	ovary
13	chr11:108780600-108810600	Weak transcription	Pancreas	Pancrea
14	chr11:108780800-108790000	Weak transcription	Dnd41	blood
15	chr11:108781400-108787800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:108781600-108810400	Weak transcription	GM12878-XiMat	blood
17	chr11:108781800-108793200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr11:108782200-108792000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:108783000-108810600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr11:108784000-108786800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:108784000-108787000	Weak transcription	HSMMtube	muscle
22	chr11:108784200-108786800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:108784200-108796600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:108784400-108786800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:108784400-108793200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:108784400-108804000	Weak transcription	K562	blood
27	chr11:108785000-108787600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:108785000-108787600	Enhancers	A549	lung
29	chr11:108785000-108788400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:108785200-108807800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:108785600-108788200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr11:108785800-108786800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:108786000-108787000	Weak transcription	NHLF	lung
34	chr11:108786000-108790200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr11:108786000-108793000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:108786200-108788200	Enhancers	Osteobl	bone
37	chr11:108786200-108789600	Weak transcription	Primary T cells from cord blood	blood
38	chr11:108786400-108788000	Enhancers	NH-A	brain
39	chr11:108786400-108810600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr11:108786800-108787000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:108786800-108787200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr11:108786800-108787400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:108786800-108787600	Enhancers	NHEK	skin
44	chr11:108786800-108788000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:108786800-108788000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:108786800-108788000	Enhancers	HSMM	muscle
47	chr11:108786800-108788000	Enhancers	HUVEC	blood vessel
48	chr11:108786800-108788000	Enhancers	NHDF-Ad	bronchial
49	chr11:108787000-108787200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:108787000-108787200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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