Variant report

Variant	nsv898040
Chromosome Location	chr11:84524697-84600597
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:19)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:84528411..84530417-chr11:84577098..84579531,2	MCF-7	breast:
2	chr11:84541693..84544292-chr11:84548983..84550682,2	K562	blood:
3	chr11:84534635..84536505-chr11:84543344..84545069,2	MCF-7	breast:
4	chr11:84534635..84536505-chr11:84543344..84545069,2	MCF-7	breast:
5	chr11:84528411..84530417-chr11:84577098..84579531,2	MCF-7	breast:
6	chr11:84563887..84565561-chr11:84566594..84569120,2	MCF-7	breast:
7	chr11:84575601..84576409-chr3:114324860..114325495,2	MCF-7	breast:
8	chr11:84552115..84554820-chr11:84563186..84564917,2	MCF-7	breast:
9	chr11:84567200..84570703-chr11:84574977..84578515,4	MCF-7	breast:
10	chr11:84541693..84544292-chr11:84548983..84550682,2	K562	blood:
11	chr11:84525910..84528533-chr11:84530847..84533253,2	MCF-7	breast:
12	chr11:84563887..84565561-chr11:84566594..84569120,2	MCF-7	breast:
13	chr11:84546124..84548481-chr11:84550668..84552632,2	MCF-7	breast:
14	chr11:84539274..84541625-chr11:84541915..84544256,2	MCF-7	breast:
15	chr11:84546124..84548481-chr11:84550668..84552632,2	MCF-7	breast:
16	chr11:84552115..84554820-chr11:84563186..84564917,2	MCF-7	breast:
17	chr11:84539274..84541625-chr11:84541915..84544256,2	MCF-7	breast:
18	chr11:84567200..84570703-chr11:84574977..84578515,4	MCF-7	breast:
19	chr11:84525910..84528533-chr11:84530847..84533253,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM126B-4	chr11:84600536-84604026	NONHSAT023429
2	lnc-TMEM126B-4	chr11:84595375-84600529	NONHSAT023429
3	lnc-TMEM126B-4	chr11:84594424-84595369	NONHSAT023429

No data

Extended variants
information (count: 2393 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2393 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4370960	chr11:84524697-84524698	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565061871	chr11:84524700-84524701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532119851	chr11:84524718-84524719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547045595	chr11:84524736-84524737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190485040	chr11:84524796-84524797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529697811	chr11:84524807-84524808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532457448	chr11:84524885-84524886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547893564	chr11:84524890-84524891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567514535	chr11:84524905-84524906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577392690	chr11:84524962-84524963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183026680	chr11:84524964-84524965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79505901	chr11:84524976-84524977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74933517	chr11:84525039-84525040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553324822	chr11:84525063-84525064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531570149	chr11:84525152-84525153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547956521	chr11:84525155-84525156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113265162	chr11:84525158-84525159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17741171	chr11:84525204-84525205	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs371387046	chr11:84525230-84525231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542514621	chr11:84525235-84525236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576282372	chr11:84525290-84525291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533536716	chr11:84525296-84525297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543288468	chr11:84525323-84525324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186943015	chr11:84525341-84525342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577037282	chr11:84525386-84525387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146431569	chr11:84525405-84525406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558885387	chr11:84525415-84525416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs17741177	chr11:84525420-84525421	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs149029137	chr11:84525454-84525455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563075526	chr11:84525496-84525497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142243209	chr11:84525497-84525498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191529788	chr11:84525516-84525517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571813649	chr11:84525524-84525525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566780474	chr11:84525542-84525543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538922543	chr11:84525583-84525584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183083736	chr11:84525585-84525586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs151221934	chr11:84525603-84525604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536674043	chr11:84525644-84525645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555085651	chr11:84525668-84525669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531025148	chr11:84525751-84525752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187729606	chr11:84525774-84525775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537575454	chr11:84525787-84525788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369310401	chr11:84525803-84525804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192350574	chr11:84525806-84525807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558422394	chr11:84525853-84525854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140355993	chr11:84525861-84525862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540960544	chr11:84525869-84525870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559247235	chr11:84525880-84525881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34792445	chr11:84525902-84525903	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs138078737	chr11:84525928-84525929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84521800-84526200	Enhancers	Fetal Brain Male	brain
2	chr11:84522000-84525000	Enhancers	Fetal Brain Female	brain
3	chr11:84523800-84526800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:84525000-84528200	Weak transcription	Fetal Brain Female	brain
5	chr11:84525600-84525800	Enhancers	Fetal Stomach	stomach
6	chr11:84526800-84527200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:84527200-84529200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:84528200-84528800	Enhancers	Fetal Brain Female	brain
9	chr11:84528200-84530400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:84528400-84530600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:84528400-84530800	Enhancers	NHEK	skin
12	chr11:84528600-84529000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:84528600-84529600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr11:84528600-84530600	Enhancers	HMEC	breast
15	chr11:84528800-84529600	Enhancers	NHDF-Ad	bronchial
16	chr11:84529000-84529400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:84529200-84531400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:84529400-84530800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:84529600-84530000	Weak transcription	NHDF-Ad	bronchial
20	chr11:84529600-84530200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:84529600-84532000	Enhancers	Fetal Heart	heart
22	chr11:84530000-84530200	Enhancers	Left Ventricle	heart
23	chr11:84530000-84530600	Enhancers	NHDF-Ad	bronchial
24	chr11:84530000-84530800	Enhancers	HSMMtube	muscle
25	chr11:84530200-84530400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr11:84530200-84530600	Enhancers	Fetal Muscle Leg	muscle
27	chr11:84530200-84530600	Enhancers	NH-A	brain
28	chr11:84530200-84531000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr11:84530200-84535800	Weak transcription	Left Ventricle	heart
30	chr11:84530400-84530800	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr11:84530400-84531000	Enhancers	Fetal Lung	lung
32	chr11:84530600-84531000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:84531000-84535000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:84532000-84534600	Weak transcription	Fetal Heart	heart
35	chr11:84534600-84537200	Enhancers	Fetal Heart	heart
36	chr11:84535000-84536000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:84535000-84536400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:84535600-84536000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:84535800-84536000	Enhancers	Left Ventricle	heart
40	chr11:84535800-84536800	Enhancers	Fetal Intestine Small	intestine
41	chr11:84535800-84537000	Enhancers	Fetal Intestine Large	intestine
42	chr11:84536000-84536600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr11:84536000-84536800	Enhancers	Brain Angular Gyrus	brain
44	chr11:84536000-84536800	Enhancers	Fetal Kidney	kidney
45	chr11:84536000-84536800	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr11:84536000-84541200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:84536400-84540400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:84536800-84542800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr11:84537000-84542800	Weak transcription	Fetal Intestine Large	intestine
50	chr11:84540000-84540800	Enhancers	NHEK	skin

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