Variant report

Variant	nsv580971
Chromosome Location	chr2:11175395-11226507
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:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:111107958..111109838-chr2:11209436..11210956,2	MCF-7	breast:
2	chr2:11213530..11214067-chr2:11261337..11261855,2	MCF-7	breast:
3	chr2:11192261..11193853-chr2:11219534..11222472,2	MCF-7	breast:
4	chr2:11207479..11209731-chr2:11210577..11212814,2	K562	blood:
5	chr2:11183075..11185679-chr2:11187212..11189599,2	K562	blood:
6	chr2:11192261..11193853-chr2:11219534..11222472,2	MCF-7	breast:
7	chr2:11158514..11161172-chr2:11207047..11208600,2	MCF-7	breast:
8	chr2:11178793..11181388-chr2:11181451..11184006,2	K562	blood:
9	chr2:11221296..11223219-chr2:11223373..11224955,2	MCF-7	breast:
10	chr2:11217637..11219287-chr2:11222493..11224652,2	MCF-7	breast:
11	chr2:11215555..11217160-chr2:11266403..11268332,2	K562	blood:
12	chr2:11207479..11209731-chr2:11210577..11212814,2	K562	blood:
13	chr2:11214515..11217440-chr2:11219312..11221040,2	K562	blood:
14	chr2:11213355..11214082-chr2:11264187..11265377,5	MCF-7	breast:
15	chr2:11213696..11215266-chr2:11216231..11217770,2	MCF-7	breast:
16	chr2:11212343..11214819-chr2:11221166..11223502,2	MCF-7	breast:
17	chr2:11192659..11195010-chr2:11197326..11199050,2	K562	blood:
18	chr2:11183075..11185679-chr2:11187212..11189599,2	K562	blood:
19	chr2:11224082..11226359-chr2:11231709..11234438,2	MCF-7	breast:
20	chr2:11179228..11182108-chr2:11185674..11188009,2	K562	blood:
21	chr2:11051623..11053641-chr2:11180042..11182130,2	MCF-7	breast:
22	chr2:11192467..11195244-chr2:11216881..11219643,2	MCF-7	breast:
23	chr2:11049867..11053292-chr2:11184248..11187361,3	MCF-7	breast:
24	chr2:11217637..11219287-chr2:11222493..11224652,2	MCF-7	breast:
25	chr2:11212005..11213742-chr2:11263802..11265970,2	MCF-7	breast:
26	chr2:11212343..11214819-chr2:11221166..11223502,2	MCF-7	breast:
27	chr2:11192659..11195010-chr2:11197326..11199050,2	K562	blood:
28	chr2:11192467..11195244-chr2:11216881..11219643,2	MCF-7	breast:
29	chr2:11219892..11221971-chr2:11224243..11226682,2	MCF-7	breast:
30	chr2:11162921..11164453-chr2:11209182..11211936,2	MCF-7	breast:
31	chr2:11178793..11181432-chr2:11182506..11184487,2	K562	blood:
32	chr2:11165889..11168085-chr2:11176369..11179284,2	K562	blood:
33	chr2:11179228..11182108-chr2:11185674..11188009,2	K562	blood:
34	chr2:11213696..11215266-chr2:11216231..11217770,2	MCF-7	breast:
35	chr2:11178793..11181388-chr2:11181451..11184006,2	K562	blood:
36	chr2:11219892..11221971-chr2:11224243..11226682,2	MCF-7	breast:
37	chr2:11213548..11215079-chr2:11263052..11265124,2	MCF-7	breast:
38	chr2:11213126..11213688-chr2:11263390..11264093,2	MCF-7	breast:
39	chr2:11215499..11217750-chr2:11259402..11261884,2	MCF-7	breast:
40	chr2:11095672..11098504-chr2:11211086..11213871,2	MCF-7	breast:
41	chr2:11221296..11223219-chr2:11223373..11224955,2	MCF-7	breast:
42	chr2:11214515..11217440-chr2:11219312..11221040,2	K562	blood:
43	chr2:11178793..11181432-chr2:11182506..11184487,2	K562	blood:
44	chr2:11213310..11214023-chr2:11269749..11271029,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162975	chromatin interactions

Extended variants
information (count: 1562 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1562 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555462563	chr2:11178801-11178802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs561421346	chr2:11178888-11178889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs184285949	chr2:11178893-11178894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs574083530	chr2:11178926-11178927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs189841452	chr2:11178940-11178941	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs140818966	chr2:11178958-11178959	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs111624156	chr2:11178966-11178967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs144905646	chr2:11178992-11178993	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs146745867	chr2:11179013-11179014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs76623455	chr2:11179138-11179139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs140520760	chr2:11179187-11179188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs542720138	chr2:11179197-11179198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs143181680	chr2:11180038-11180039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544888363	chr2:11180051-11180052	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs4669681	chr2:11180104-11180105	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs4669682	chr2:11180113-11180114	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs186991810	chr2:11180167-11180168	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs548751898	chr2:11180241-11180242	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566959416	chr2:11180257-11180258	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs528138636	chr2:11180343-11180344	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs546310377	chr2:11180357-11180358	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs570874022	chr2:11180367-11180368	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs147540137	chr2:11180372-11180373	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs140146786	chr2:11180428-11180429	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs142699018	chr2:11180536-11180537	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs150729779	chr2:11180550-11180551	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs190667241	chr2:11180551-11180552	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs74340678	chr2:11180610-11180611	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs540704371	chr2:11180654-11180655	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559112489	chr2:11180665-11180666	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs560502909	chr2:11180670-11180671	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577450449	chr2:11180700-11180701	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs544597765	chr2:11180728-11180729	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs77250598	chr2:11180810-11180811	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs182006939	chr2:11180840-11180841	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs542159714	chr2:11180861-11180862	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560706418	chr2:11180894-11180895	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs527894406	chr2:11181011-11181012	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs552388199	chr2:11181100-11181101	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs148394979	chr2:11181153-11181154	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs369480672	chr2:11181159-11181160	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs71439044	chr2:11181175-11181176	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs532121773	chr2:11181195-11181196	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs550542000	chr2:11181214-11181215	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs184998413	chr2:11181263-11181264	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs377739117	chr2:11181268-11181269	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs112251813	chr2:11181303-11181304	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs117933190	chr2:11181363-11181364	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs566627801	chr2:11181365-11181366	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs149912310	chr2:11181489-11181490	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:233 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11178800-11179200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:11180000-11180200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:11180000-11181200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:11180200-11181000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:11180200-11181200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:11180200-11181800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:11180600-11181000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:11180600-11181000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:11180600-11181200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:11180800-11181400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:11180800-11181400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:11181000-11181400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr2:11181000-11181400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr2:11181000-11181600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr2:11181000-11182600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:11181200-11181800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:11181200-11181800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:11181200-11182600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:11181800-11183000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:11182600-11184200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr2:11182600-11184200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:11182600-11184200	Enhancers	Fetal Brain Male	brain
23	chr2:11182800-11183800	Enhancers	Brain Hippocampus Middle	brain
24	chr2:11183000-11183800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:11183000-11183800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:11183000-11183800	Enhancers	Brain Cingulate Gyrus	brain
27	chr2:11183200-11183400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:11183200-11184200	Enhancers	Fetal Brain Female	brain
29	chr2:11183600-11183800	Enhancers	Fetal Muscle Leg	muscle
30	chr2:11183800-11188800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:11184200-11187800	Weak transcription	Fetal Brain Male	brain
32	chr2:11187800-11188000	Enhancers	Fetal Brain Male	brain
33	chr2:11188000-11188800	Weak transcription	Fetal Brain Male	brain
34	chr2:11188800-11189000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:11188800-11189200	Enhancers	Fetal Brain Male	brain
36	chr2:11189200-11191000	Weak transcription	Fetal Brain Male	brain
37	chr2:11189400-11190600	Enhancers	Brain Anterior Caudate	brain
38	chr2:11190200-11190600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr2:11190200-11191000	Enhancers	Fetal Brain Female	brain
40	chr2:11190600-11190800	Enhancers	HMEC	breast
41	chr2:11191000-11191400	Enhancers	Fetal Brain Male	brain
42	chr2:11191000-11196800	Weak transcription	Fetal Brain Female	brain
43	chr2:11191400-11194200	Weak transcription	Fetal Brain Male	brain
44	chr2:11191600-11191800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:11194000-11194200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:11194200-11194400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr2:11194200-11195400	Enhancers	Fetal Brain Male	brain
48	chr2:11194400-11196600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:11195000-11195400	ZNF genes & repeats	Spleen	Spleen
50	chr2:11195400-11196600	Weak transcription	Fetal Brain Male	brain

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