Variant report

Variant	nsv517664
Chromosome Location	chr11:93866147-93913036
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:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:93867049..93869190-chr11:94275385..94277277,2	K562	blood:
2	chr11:93877656..93879395-chr11:93882351..93886074,3	MCF-7	breast:
3	chr11:93835888..93838608-chr11:93905991..93908122,2	K562	blood:
4	chr11:93899070..93901614-chr11:93903324..93905599,3	K562	blood:
5	chr11:93880754..93883524-chr11:93885061..93886886,2	K562	blood:
6	chr11:93861895..93865118-chr11:93874866..93877940,3	K562	blood:
7	chr11:93877718..93879953-chr11:94225579..94227905,2	K562	blood:
8	chr11:93874386..93876238-chr11:93877234..93879680,2	MCF-7	breast:
9	chr11:93907084..93908799-chr11:93910378..93911922,2	K562	blood:
10	chr11:93867029..93870976-chr11:93873101..93877852,6	K562	blood:
11	chr11:93860451..93862555-chr11:93865619..93868399,2	MCF-7	breast:
12	chr11:93899070..93901614-chr11:93903324..93905599,3	K562	blood:
13	chr11:93904956..93905513-chr11:94237606..94238533,2	K562	blood:
14	chr11:93875120..93879114-chr11:93880737..93884211,6	K562	blood:
15	chr11:93860855..93863542-chr11:93879661..93882968,3	MCF-7	breast:
16	chr11:93862864..93865828-chr11:93884142..93886084,2	MCF-7	breast:
17	chr11:93874386..93876238-chr11:93877234..93879680,2	MCF-7	breast:
18	chr11:93861121..93863513-chr11:93882964..93886089,4	K562	blood:
19	chr11:93875120..93879114-chr11:93880737..93884211,6	K562	blood:
20	chr11:93877656..93879395-chr11:93882351..93886074,3	MCF-7	breast:
21	chr11:93866030..93868662-chr11:93884389..93887583,3	K562	blood:
22	chr11:93899070..93901930-chr11:93903657..93905599,2	K562	blood:
23	chr11:93899070..93901930-chr11:93903657..93905599,2	K562	blood:
24	chr11:93904970..93905492-chr11:93917118..93917628,2	K562	blood:
25	chr11:93867029..93870976-chr11:93873101..93877852,6	K562	blood:
26	chr11:93880754..93883524-chr11:93885061..93886886,2	K562	blood:
27	chr11:93865596..93867137-chr11:94149327..94151295,2	MCF-7	breast:
28	chr11:93861143..93863415-chr11:93902863..93904604,2	MCF-7	breast:
29	chr11:93866030..93868662-chr11:93884389..93887583,3	K562	blood:
30	chr11:93907084..93908799-chr11:93910378..93911922,2	K562	blood:
31	chr11:93883205..93885186-chr9:20620722..20622616,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000110218	chromatin interactions
ENSG00000196371	chromatin interactions
ENSG00000263966	chromatin interactions
ENSG00000134627	chromatin interactions
ENSG00000171843	chromatin interactions
ENSG00000020922	chromatin interactions
ENSG00000168876	chromatin interactions

Extended variants
information (count: 1932 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1932 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11607757	chr11:93866147-93866148	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs79107742	chr11:93866173-93866174	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs368359825	chr11:93866201-93866202	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs116595307	chr11:93866204-93866205	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs72970704	chr11:93866228-93866229	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs192167747	chr11:93866229-93866230	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs141935173	chr11:93866234-93866235	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs77785352	chr11:93866248-93866249	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs532911131	chr11:93866272-93866273	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs551066146	chr11:93866278-93866279	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs182671219	chr11:93866292-93866293	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs563006954	chr11:93866328-93866329	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs548848679	chr11:93866333-93866334	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs530544477	chr11:93866350-93866351	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs566964348	chr11:93866374-93866375	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs115700993	chr11:93866466-93866467	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs187323011	chr11:93866510-93866511	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs534600308	chr11:93866542-93866543	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs147123017	chr11:93866578-93866579	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs12803387	chr11:93866594-93866595	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs538789487	chr11:93866595-93866596	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs375000504	chr11:93866598-93866599	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs369197814	chr11:93866650-93866651	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs538694356	chr11:93866669-93866670	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs569219053	chr11:93866719-93866720	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs536671562	chr11:93866755-93866756	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs554643174	chr11:93866760-93866761	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs532113898	chr11:93866765-93866766	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs573514170	chr11:93866815-93866816	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs369494786	chr11:93866842-93866843	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs144041326	chr11:93866948-93866949	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs558780811	chr11:93866993-93866994	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs577033791	chr11:93867005-93867006	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs544366523	chr11:93867009-93867010	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs4753542	chr11:93867039-93867040	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs530501982	chr11:93867070-93867071	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs542644118	chr11:93867075-93867076	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs549357866	chr11:93867130-93867131	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs528431545	chr11:93867149-93867150	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs112822859	chr11:93867153-93867154	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs112309609	chr11:93867182-93867183	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs71958753	chr11:93867183-93867184	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs571524610	chr11:93867206-93867207	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs532359259	chr11:93867222-93867223	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs192259859	chr11:93867240-93867241	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs144314260	chr11:93867269-93867270	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs536331478	chr11:93867279-93867280	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs554986927	chr11:93867302-93867303	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs536508904	chr11:93867335-93867336	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs533893602	chr11:93867489-93867490	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	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
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
Breast cancer	18852474	CNVD
Breast cancer	22844521	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1995 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93863000-93866600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:93863000-93866600	Enhancers	Spleen	Spleen
3	chr11:93863000-93867200	Enhancers	Esophagus	oesophagus
4	chr11:93863200-93866600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:93863400-93866200	Enhancers	Gastric	stomach
6	chr11:93863400-93866600	Enhancers	Fetal Heart	heart
7	chr11:93863400-93867400	Enhancers	Primary T cells fromperipheralblood	blood
8	chr11:93863400-93868600	Enhancers	Pancreas	Pancrea
9	chr11:93863600-93866200	Enhancers	Fetal Intestine Large	intestine
10	chr11:93863600-93868400	Enhancers	Lung	lung
11	chr11:93863600-93868600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr11:93863600-93868800	Enhancers	Placenta	Placenta
13	chr11:93863600-93871400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:93863800-93866200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:93863800-93866400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr11:93863800-93868800	Enhancers	Left Ventricle	heart
17	chr11:93863800-93869800	Enhancers	Fetal Muscle Leg	muscle
18	chr11:93863800-93870200	Enhancers	Right Ventricle	heart
19	chr11:93864000-93867800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:93864000-93868200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:93864000-93871200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:93864000-93879800	Weak transcription	Primary T cells from cord blood	blood
23	chr11:93864200-93868000	Enhancers	HUVEC	blood vessel
24	chr11:93864200-93868600	Enhancers	K562	blood
25	chr11:93864400-93866600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr11:93864400-93867600	Weak transcription	Primary B cells from cord blood	blood
27	chr11:93864400-93868200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr11:93864400-93868400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:93864400-93868600	Enhancers	Right Atrium	heart
30	chr11:93864400-93869000	Enhancers	Liver	Liver
31	chr11:93864400-93869400	Enhancers	Placenta Amnion	Placenta Amnion
32	chr11:93864400-93870000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr11:93864400-93870200	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr11:93864400-93872800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:93864600-93866400	Enhancers	H9 Cell Line	embryonic stem cell
36	chr11:93864600-93867200	Enhancers	Brain Angular Gyrus	brain
37	chr11:93864600-93867400	Active TSS	GM12878-XiMat	blood
38	chr11:93864600-93868000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr11:93864600-93868200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr11:93864800-93866200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr11:93864800-93866400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:93864800-93867200	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr11:93864800-93867400	Weak transcription	Ovary	ovary
44	chr11:93864800-93867800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:93864800-93867800	Weak transcription	Fetal Thymus	thymus
46	chr11:93864800-93868200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:93864800-93868200	Weak transcription	Colonic Mucosa	Colon
48	chr11:93864800-93869600	Enhancers	Colon Smooth Muscle	Colon
49	chr11:93864800-93871200	Weak transcription	Thymus	Thymus
50	chr11:93864800-93873200	Weak transcription	Rectal Mucosa Donor 29	rectum

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