Variant report

Variant	nsv834416
Chromosome Location	chr2:151517784-151699912
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:54)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:151536028..151537983-chr2:151543267..151545566,2	MCF-7	breast:
2	chr2:151527893..151530038-chr2:151538042..151540023,2	K562	blood:
3	chr2:151343448..151345424-chr2:151666040..151668021,2	MCF-7	breast:
4	chr2:151602745..151605688-chr2:151608426..151610874,3	MCF-7	breast:
5	chr2:151669959..151672613-chr2:151673437..151676374,2	K562	blood:
6	chr2:151634541..151636776-chr2:151640394..151644038,3	K562	blood:
7	chr18:11001924..11002437-chr2:151673182..151673730,2	MCF-7	breast:
8	chr2:151660723..151663706-chr2:151665493..151667253,2	K562	blood:
9	chr2:151586036..151588410-chr2:151590838..151593388,2	MCF-7	breast:
10	chr2:151616816..151619630-chr2:151619910..151622607,3	MCF-7	breast:
11	chr2:151531823..151533562-chr2:151538525..151541034,2	K562	blood:
12	chr2:151550317..151552227-chr2:151553148..151555899,3	MCF-7	breast:
13	chr2:151669959..151672613-chr2:151673437..151676374,2	K562	blood:
14	chr2:151554399..151557033-chr2:151557508..151559022,2	MCF-7	breast:
15	chr2:151664077..151666029-chr2:151667999..151669580,2	K562	blood:
16	chr2:151586036..151588410-chr2:151590838..151593388,2	MCF-7	breast:
17	chr2:151660723..151663706-chr2:151665493..151667253,2	K562	blood:
18	chr2:151543063..151545209-chr2:151589638..151591531,2	MCF-7	breast:
19	chr2:151342056..151344024-chr2:151662535..151664864,2	MCF-7	breast:
20	chr2:151664077..151666029-chr2:151667999..151669580,2	K562	blood:
21	chr2:151661353..151663578-chr2:151667658..151669550,3	K562	blood:
22	chr2:151661353..151663578-chr2:151667658..151669550,3	K562	blood:
23	chr2:151468907..151471781-chr2:151558771..151560648,2	K562	blood:
24	chr2:151518612..151521370-chr2:151528175..151529931,2	MCF-7	breast:
25	chr2:151617268..151619341-chr2:151619965..151622687,3	MCF-7	breast:
26	chr2:151602745..151605688-chr2:151608426..151610874,3	MCF-7	breast:
27	chr2:151518612..151521370-chr2:151528175..151529931,2	MCF-7	breast:
28	chr2:151563813..151565858-chr2:151568466..151570901,2	MCF-7	breast:
29	chr2:151541056..151543593-chr2:151547271..151548987,2	K562	blood:
30	chr2:151536028..151537983-chr2:151543267..151545566,2	MCF-7	breast:
31	chr2:151554399..151557033-chr2:151557508..151559022,2	MCF-7	breast:
32	chr2:151580206..151582720-chr2:151585105..151587713,2	K562	blood:
33	chr2:151512811..151515542-chr2:151522739..151525496,2	K562	blood:
34	chr2:151569398..151571442-chr2:151579997..151582186,2	MCF-7	breast:
35	chr2:151527893..151530038-chr2:151538042..151540023,2	K562	blood:
36	chr2:151617268..151619341-chr2:151619965..151622687,3	MCF-7	breast:
37	chr2:151512811..151515542-chr2:151521344..151525496,3	K562	blood:
38	chr2:151680782..151682381-chr2:151683775..151685819,2	K562	blood:
39	chr2:151541056..151543593-chr2:151547271..151548987,2	K562	blood:
40	chr2:151634541..151636776-chr2:151640394..151644038,3	K562	blood:
41	chr2:151533248..151535265-chr2:151536631..151538715,2	MCF-7	breast:
42	chr2:151679943..151682282-chr2:151683627..151685819,2	K562	blood:
43	chr2:151531823..151533562-chr2:151538525..151541034,2	K562	blood:
44	chr2:151580206..151582720-chr2:151585105..151587713,2	K562	blood:
45	chr2:151680782..151682381-chr2:151683775..151685819,2	K562	blood:
46	chr2:151607201..151610194-chr2:151614017..151616219,2	K562	blood:
47	chr2:151616816..151619630-chr2:151619910..151622607,3	MCF-7	breast:
48	chr2:151550317..151552227-chr2:151553148..151555899,3	MCF-7	breast:
49	chr2:151543063..151545209-chr2:151589638..151591531,2	MCF-7	breast:
50	chr2:151533248..151535265-chr2:151536631..151538715,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RND3-6	chr2:151565085-151565086	FPKM1_group_17405_transcript_1
2	lnc-RND3-6	chr2:151564830-151565082	NONHSAT074945
3	lnc-RND3-6	chr2:151567380-151567579	NONHSAT074945
4	lnc-RND3-6	chr2:151564830-151565082	FPKM1_group_17405_transcript_1

No data

Variant related genes	Relation type
ENSG00000115963	chromatin interactions

Extended variants
information (count: 5589 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:5589 , 50 per page) page: 1 2 3 4 5 6 7 ... 112

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73970510	chr2:151517785-151517786	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541493108	chr2:151517823-151517824	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564604035	chr2:151517839-151517840	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533482704	chr2:151517882-151517883	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192591178	chr2:151517888-151517889	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563678356	chr2:151517968-151517969	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529553149	chr2:151517971-151517972	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72869151	chr2:151517979-151517980	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs4600651	chr2:151517999-151518000	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34910342	chr2:151518006-151518007	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138539457	chr2:151518035-151518036	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142665460	chr2:151518055-151518056	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551571816	chr2:151518087-151518088	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570182158	chr2:151518089-151518090	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146714049	chr2:151518116-151518117	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75969290	chr2:151518132-151518133	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569589274	chr2:151518141-151518142	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184830204	chr2:151518143-151518144	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4260239	chr2:151518176-151518177	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs111868340	chr2:151518183-151518184	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572190625	chr2:151518184-151518185	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541192632	chr2:151518195-151518196	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558006520	chr2:151518196-151518197	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs578110763	chr2:151518338-151518339	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541085163	chr2:151518343-151518344	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201767195	chr2:151518366-151518367	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543944860	chr2:151518371-151518372	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138902765	chr2:151518403-151518404	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529320634	chr2:151518506-151518507	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543287334	chr2:151518544-151518545	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559759525	chr2:151518550-151518551	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528801655	chr2:151518551-151518552	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574236767	chr2:151518568-151518569	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189251271	chr2:151518588-151518589	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372051542	chr2:151518601-151518602	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181714483	chr2:151518640-151518641	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571515995	chr2:151518647-151518648	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199565154	chr2:151518701-151518702	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532853090	chr2:151518706-151518707	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184306728	chr2:151518731-151518732	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188746563	chr2:151518737-151518738	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569610880	chr2:151518782-151518783	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369565577	chr2:151518817-151518818	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569875498	chr2:151518859-151518860	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115159009	chr2:151518880-151518881	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565810116	chr2:151518884-151518885	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181346607	chr2:151518888-151518889	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186355039	chr2:151518903-151518904	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577955158	chr2:151518963-151518964	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6751079	chr2:151519008-151519009	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:660 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151501600-151519400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:151516600-151519400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:151517400-151518600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:151517400-151518800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:151517400-151520000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr2:151518600-151519400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:151518800-151521800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:151519400-151519800	Enhancers	NH-A	brain
9	chr2:151519400-151520200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:151519400-151520600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:151519400-151520600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:151519400-151520600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:151519400-151520600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:151519400-151520600	Enhancers	HSMM	muscle
15	chr2:151519400-151520600	Enhancers	HUVEC	blood vessel
16	chr2:151519400-151520600	Enhancers	Osteobl	bone
17	chr2:151519400-151520800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:151519400-151520800	Enhancers	HMEC	breast
19	chr2:151519400-151521000	Enhancers	Hela-S3	cervix
20	chr2:151519400-151521200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:151519400-151521400	Enhancers	NHLF	lung
22	chr2:151519400-151521600	Enhancers	NHDF-Ad	bronchial
23	chr2:151519600-151519800	Enhancers	NHEK	skin
24	chr2:151519600-151520200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:151519600-151520600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:151519600-151520600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:151519800-151520200	Flanking Active TSS	NH-A	brain
28	chr2:151519800-151520200	Flanking Active TSS	NHEK	skin
29	chr2:151520000-151520600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:151520200-151520600	Enhancers	NH-A	brain
31	chr2:151520200-151520600	Enhancers	NHEK	skin
32	chr2:151520600-151521600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:151520800-151530200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:151521000-151521600	Enhancers	Fetal Brain Female	brain
35	chr2:151521200-151522200	Enhancers	Dnd41	blood
36	chr2:151521600-151521800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:151521600-151522800	Weak transcription	Fetal Brain Female	brain
38	chr2:151522200-151522600	Weak transcription	Dnd41	blood
39	chr2:151522600-151524800	Enhancers	Dnd41	blood
40	chr2:151522800-151523800	Enhancers	Fetal Brain Female	brain
41	chr2:151528200-151528600	Enhancers	NHDF-Ad	bronchial
42	chr2:151528600-151529800	Weak transcription	NHDF-Ad	bronchial
43	chr2:151529800-151531800	Enhancers	NHDF-Ad	bronchial
44	chr2:151530200-151530600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:151530200-151532600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:151530600-151535200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:151531400-151534000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:151531800-151532200	Weak transcription	NHDF-Ad	bronchial
49	chr2:151532000-151534600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:151532200-151532400	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links