Variant report

Variant	nsv817205
Chromosome Location	chr11:84497319-84628963
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:35)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:84525910..84528533-chr11:84530847..84533253,2	MCF-7	breast:
2	chr11:84541693..84544292-chr11:84548983..84550682,2	K562	blood:
3	chr11:84541693..84544292-chr11:84548983..84550682,2	K562	blood:
4	chr11:84612827..84615559-chr11:84618627..84620812,2	MCF-7	breast:
5	chr11:84611520..84613778-chr11:84615685..84617408,2	MCF-7	breast:
6	chr11:84521250..84522082-chr9:80503046..80503774,2	MCF-7	breast:
7	chr11:84511565..84512221-chr11:85301607..85302438,2	MCF-7	breast:
8	chr11:84528411..84530417-chr11:84577098..84579531,2	MCF-7	breast:
9	chr11:84552115..84554820-chr11:84563186..84564917,2	MCF-7	breast:
10	chr11:84511529..84512428-chr11:84891320..84891992,2	MCF-7	breast:
11	chr11:84510123..84510756-chr9:110818697..110819229,2	MCF-7	breast:
12	chr11:84611520..84613778-chr11:84615685..84617408,2	MCF-7	breast:
13	chr11:84567200..84570703-chr11:84574977..84578515,4	MCF-7	breast:
14	chr11:84341502..84343647-chr11:84513297..84515436,2	MCF-7	breast:
15	chr11:84575601..84576409-chr3:114324860..114325495,2	MCF-7	breast:
16	chr11:84511571..84512337-chr11:84793091..84793705,2	MCF-7	breast:
17	chr11:84612827..84615559-chr11:84618627..84620812,2	MCF-7	breast:
18	chr11:84525910..84528533-chr11:84530847..84533253,2	MCF-7	breast:
19	chr11:84539274..84541625-chr11:84541915..84544256,2	MCF-7	breast:
20	chr11:84534635..84536505-chr11:84543344..84545069,2	MCF-7	breast:
21	chr11:84601788..84603295-chr11:84825346..84828031,2	K562	blood:
22	chr11:84534635..84536505-chr11:84543344..84545069,2	MCF-7	breast:
23	chr11:84546124..84548481-chr11:84550668..84552632,2	MCF-7	breast:
24	chr11:84602211..84602764-chr12:93743812..93744346,2	MCF-7	breast:
25	chr11:84552115..84554820-chr11:84563186..84564917,2	MCF-7	breast:
26	chr11:84491046..84493285-chr11:84497010..84499873,2	MCF-7	breast:
27	chr11:84528411..84530417-chr11:84577098..84579531,2	MCF-7	breast:
28	chr11:84546124..84548481-chr11:84550668..84552632,2	MCF-7	breast:
29	chr11:84567200..84570703-chr11:84574977..84578515,4	MCF-7	breast:
30	chr11:84563887..84565561-chr11:84566594..84569120,2	MCF-7	breast:
31	chr11:84563887..84565561-chr11:84566594..84569120,2	MCF-7	breast:
32	chr11:84511526..84512253-chr11:84704190..84705142,4	MCF-7	breast:
33	chr11:84620550..84623155-chr11:84629095..84630856,2	MCF-7	breast:
34	chr11:84511513..84512396-chr11:85301539..85302262,2	MCF-7	breast:
35	chr11:84539274..84541625-chr11:84541915..84544256,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM126B-4	chr11:84595375-84600529	NONHSAT023429
2	lnc-TMEM126B-4	chr11:84600536-84604026	NONHSAT023429
3	lnc-TMEM126B-4	chr11:84604034-84604599	NONHSAT023429
4	lnc-TMEM126B-4	chr11:84594424-84595369	NONHSAT023429
5	lnc-TMEM126B-2	chr11:84511574-84511744	ENSG00000254787.1

No data

Extended variants
information (count: 4235 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:4235 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181432601	chr11:84497606-84497607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561926224	chr11:84497608-84497609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1943701	chr11:84497615-84497616	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs138251380	chr11:84497639-84497640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186870572	chr11:84497653-84497654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531056845	chr11:84497661-84497662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77242070	chr11:84497701-84497702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574291828	chr11:84497716-84497717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17741047	chr11:84497747-84497748	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs528308419	chr11:84497757-84497758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546528386	chr11:84497758-84497759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34240195	chr11:84497767-84497768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373513334	chr11:84497771-84497772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10501572	chr11:84497816-84497817	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs541706555	chr11:84497851-84497852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17741065	chr11:84497853-84497854	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs552728156	chr11:84497868-84497869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34695563	chr11:84497931-84497932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149488974	chr11:84497932-84497933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568589542	chr11:84497953-84497954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191719445	chr11:84497974-84497975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373138327	chr11:84498000-84498001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539113094	chr11:84498016-84498017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376125860	chr11:84498032-84498033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557453551	chr11:84498039-84498040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577319245	chr11:84498042-84498043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183230102	chr11:84498045-84498046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553383774	chr11:84498052-84498053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17808315	chr11:84498053-84498054	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542223743	chr11:84498114-84498115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11826109	chr11:84498119-84498120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11821444	chr11:84498124-84498125	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs369237160	chr11:84498161-84498162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571940006	chr11:84498188-84498189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377684174	chr11:84498189-84498190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191578500	chr11:84503688-84503689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552393282	chr11:84503700-84503701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564201502	chr11:84503710-84503711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77199199	chr11:84503721-84503722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528993413	chr11:84503736-84503737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs80018447	chr11:84503776-84503777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549231874	chr11:84503802-84503803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567688827	chr11:84503821-84503822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567446688	chr11:84503839-84503840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184105376	chr11:84503841-84503842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550221021	chr11:84503843-84503844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568974377	chr11:84503896-84503897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370368401	chr11:84503901-84503902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188108006	chr11:84503903-84503904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577383378	chr11:84503939-84503940	Enhancers Weak transcription	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:418 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84497600-84498200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:84503600-84504800	Enhancers	Fetal Heart	heart
3	chr11:84503800-84505400	Weak transcription	Fetal Stomach	stomach
4	chr11:84504400-84504600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr11:84504600-84504800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr11:84504800-84505200	Flanking Active TSS	Fetal Heart	heart
7	chr11:84505200-84506400	Enhancers	Fetal Heart	heart
8	chr11:84505400-84506000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:84505400-84506600	Strong transcription	Fetal Stomach	stomach
10	chr11:84505600-84506400	Enhancers	Right Ventricle	heart
11	chr11:84505800-84507200	Enhancers	Thymus	Thymus
12	chr11:84506400-84506800	Weak transcription	Right Ventricle	heart
13	chr11:84506400-84511800	Weak transcription	Fetal Heart	heart
14	chr11:84506600-84510000	Weak transcription	Fetal Stomach	stomach
15	chr11:84506800-84507200	Enhancers	Right Ventricle	heart
16	chr11:84509600-84510600	Enhancers	Fetal Muscle Leg	muscle
17	chr11:84509800-84510200	Enhancers	Fetal Muscle Trunk	muscle
18	chr11:84510000-84510400	Enhancers	Fetal Stomach	stomach
19	chr11:84511800-84512200	Enhancers	Fetal Heart	heart
20	chr11:84512200-84514400	Weak transcription	Fetal Heart	heart
21	chr11:84514400-84515800	Enhancers	Fetal Heart	heart
22	chr11:84517600-84517800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
23	chr11:84521200-84522600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr11:84521600-84522600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr11:84521800-84526200	Enhancers	Fetal Brain Male	brain
26	chr11:84522000-84525000	Enhancers	Fetal Brain Female	brain
27	chr11:84522200-84522600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr11:84522200-84522600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:84522600-84523800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:84523400-84523800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:84523400-84523800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:84523400-84524000	Enhancers	Fetal Heart	heart
33	chr11:84523400-84524000	Enhancers	Fetal Stomach	stomach
34	chr11:84523600-84524000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:84523600-84524000	Enhancers	Fetal Lung	lung
36	chr11:84523800-84524000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr11:84523800-84524400	Enhancers	Fetal Muscle Leg	muscle
38	chr11:84523800-84526800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:84525000-84528200	Weak transcription	Fetal Brain Female	brain
40	chr11:84525600-84525800	Enhancers	Fetal Stomach	stomach
41	chr11:84526800-84527200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:84527200-84529200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:84528200-84528800	Enhancers	Fetal Brain Female	brain
44	chr11:84528200-84530400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:84528400-84530600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:84528400-84530800	Enhancers	NHEK	skin
47	chr11:84528600-84529000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:84528600-84529600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr11:84528600-84530600	Enhancers	HMEC	breast
50	chr11:84528800-84529600	Enhancers	NHDF-Ad	bronchial

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