Variant report

Variant	nsv1010993
Chromosome Location	chr2:151535786-151742522
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:57)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:151617268..151619341-chr2:151619965..151622687,3	MCF-7	breast:
2	chr2:151580206..151582720-chr2:151585105..151587713,2	K562	blood:
3	chr2:151664077..151666029-chr2:151667999..151669580,2	K562	blood:
4	chr2:151580206..151582720-chr2:151585105..151587713,2	K562	blood:
5	chr2:151602745..151605688-chr2:151608426..151610874,3	MCF-7	breast:
6	chr2:151541056..151543593-chr2:151547271..151548987,2	K562	blood:
7	chr2:151669959..151672613-chr2:151673437..151676374,2	K562	blood:
8	chr2:151468907..151471781-chr2:151558771..151560648,2	K562	blood:
9	chr2:151536028..151537983-chr2:151543267..151545566,2	MCF-7	breast:
10	chr2:151527893..151530038-chr2:151538042..151540023,2	K562	blood:
11	chr2:151554399..151557033-chr2:151557508..151559022,2	MCF-7	breast:
12	chr2:151536028..151537983-chr2:151543267..151545566,2	MCF-7	breast:
13	chr2:151554399..151557033-chr2:151557508..151559022,2	MCF-7	breast:
14	chr2:151550317..151552227-chr2:151553148..151555899,3	MCF-7	breast:
15	chr2:151531823..151533562-chr2:151538525..151541034,2	K562	blood:
16	chr2:151661353..151663578-chr2:151667658..151669550,3	K562	blood:
17	chr2:151602745..151605688-chr2:151608426..151610874,3	MCF-7	breast:
18	chr2:151616816..151619630-chr2:151619910..151622607,3	MCF-7	breast:
19	chr2:151569398..151571442-chr2:151579997..151582186,2	MCF-7	breast:
20	chr2:151543063..151545209-chr2:151589638..151591531,2	MCF-7	breast:
21	chr2:151726245..151728996-chr2:151735766..151738645,2	K562	blood:
22	chr2:151729118..151732985-chr2:151733017..151737026,4	K562	blood:
23	chr2:151607201..151610194-chr2:151614017..151616219,2	K562	blood:
24	chr10:5933821..5935712-chr2:151735859..151737363,2	K562	blood:
25	chr2:151607201..151610194-chr2:151614017..151616219,2	K562	blood:
26	chr2:151680782..151682381-chr2:151683775..151685819,2	K562	blood:
27	chr2:151660723..151663706-chr2:151665493..151667253,2	K562	blood:
28	chr2:151550317..151552227-chr2:151553148..151555899,3	MCF-7	breast:
29	chr2:151342056..151344024-chr2:151662535..151664864,2	MCF-7	breast:
30	chr2:151661353..151663578-chr2:151667658..151669550,3	K562	blood:
31	chr2:151634541..151636776-chr2:151640394..151644038,3	K562	blood:
32	chr2:151543063..151545209-chr2:151589638..151591531,2	MCF-7	breast:
33	chr2:151713893..151716276-chr2:151721161..151722735,2	K562	blood:
34	chr2:151569398..151571442-chr2:151579997..151582186,2	MCF-7	breast:
35	chr2:151586036..151588410-chr2:151590838..151593388,2	MCF-7	breast:
36	chr2:151343448..151345424-chr2:151666040..151668021,2	MCF-7	breast:
37	chr2:151679943..151682282-chr2:151683627..151685819,2	K562	blood:
38	chr2:151718532..151720265-chr2:151722000..151724171,2	K562	blood:
39	chr2:151342790..151344508-chr2:151701178..151703599,2	MCF-7	breast:
40	chr2:151718532..151720265-chr2:151722000..151724171,2	K562	blood:
41	chr2:151669959..151672613-chr2:151673437..151676374,2	K562	blood:
42	chr2:151664077..151666029-chr2:151667999..151669580,2	K562	blood:
43	chr2:151634541..151636776-chr2:151640394..151644038,3	K562	blood:
44	chr2:151541056..151543593-chr2:151547271..151548987,2	K562	blood:
45	chr2:151616816..151619630-chr2:151619910..151622607,3	MCF-7	breast:
46	chr2:151679943..151682282-chr2:151683627..151685819,2	K562	blood:
47	chr2:151586036..151588410-chr2:151590838..151593388,2	MCF-7	breast:
48	chr2:151729118..151732985-chr2:151733017..151737026,4	K562	blood:
49	chr2:151533248..151535265-chr2:151536631..151538715,2	MCF-7	breast:
50	chr18:11001924..11002437-chr2:151673182..151673730,2	MCF-7	breast:

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

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

No data

Variant related genes	Relation type
ENSG00000115963	chromatin interactions

Extended variants
information (count: 6552 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:6552 , 50 per page) page: 1 2 3 4 5 6 7 ... 132

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113709253	chr2:151535790-151535791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542614358	chr2:151535799-151535800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141309071	chr2:151535800-151535801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573075251	chr2:151535839-151535840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72869182	chr2:151535852-151535853	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs565082793	chr2:151535877-151535878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530580659	chr2:151535897-151535898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147012119	chr2:151535906-151535907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4664722	chr2:151535966-151535967	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs115124541	chr2:151535981-151535982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4664723	chr2:151536032-151536033	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs72869188	chr2:151536034-151536035	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs539314587	chr2:151536058-151536059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs59252687	chr2:151536105-151536106	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs569543503	chr2:151536135-151536136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11895368	chr2:151536159-151536160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561176877	chr2:151536160-151536161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180791210	chr2:151536163-151536164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555220440	chr2:151536167-151536168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531603479	chr2:151536174-151536175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550022698	chr2:151536196-151536197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138064449	chr2:151536220-151536221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536384993	chr2:151536253-151536254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552932489	chr2:151536265-151536266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78106342	chr2:151536297-151536298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199548112	chr2:151536307-151536308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545000096	chr2:151536393-151536394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143622510	chr2:151536446-151536447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575186359	chr2:151536528-151536529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543968838	chr2:151536573-151536574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147203168	chr2:151536575-151536576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186591006	chr2:151536581-151536582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540415867	chr2:151536588-151536589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560528184	chr2:151536592-151536593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532320536	chr2:151536598-151536599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532362237	chr2:151536610-151536611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114596299	chr2:151536612-151536613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569540675	chr2:151536620-151536621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532059278	chr2:151536685-151536686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191008647	chr2:151536694-151536695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138713716	chr2:151536706-151536707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536338683	chr2:151536713-151536714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552753821	chr2:151536771-151536772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566566018	chr2:151536785-151536786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538227804	chr2:151536791-151536792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149278455	chr2:151536797-151536798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566955178	chr2:151536803-151536804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183253002	chr2:151536897-151536898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186116245	chr2:151536915-151536916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575177603	chr2:151536926-151536927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:869 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151532400-151535800	Weak transcription	NHDF-Ad	bronchial
2	chr2:151533800-151536200	Weak transcription	Right Atrium	heart
3	chr2:151534400-151557800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:151534800-151536800	Weak transcription	Fetal Intestine Large	intestine
5	chr2:151534800-151537400	Weak transcription	Fetal Intestine Small	intestine
6	chr2:151535000-151539600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:151535200-151539600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:151535400-151539400	Enhancers	Osteobl	bone
9	chr2:151535800-151537400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:151535800-151537800	Enhancers	NH-A	brain
11	chr2:151535800-151539400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:151535800-151539400	Enhancers	NHDF-Ad	bronchial
13	chr2:151536000-151536600	Enhancers	HSMM	muscle
14	chr2:151536000-151536600	Enhancers	NHEK	skin
15	chr2:151536000-151539400	Enhancers	Hela-S3	cervix
16	chr2:151536200-151536600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:151536600-151537400	Weak transcription	HSMM	muscle
18	chr2:151536600-151539400	Enhancers	NHLF	lung
19	chr2:151536800-151539400	Enhancers	Fetal Intestine Large	intestine
20	chr2:151536800-151539600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:151537400-151537600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:151537400-151537800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:151537400-151538000	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr2:151537400-151538000	Enhancers	HSMM	muscle
25	chr2:151537400-151538200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:151537400-151538200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:151537400-151538800	Enhancers	HUVEC	blood vessel
28	chr2:151537400-151539200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr2:151537600-151538000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:151537800-151538000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:151537800-151538000	Flanking Active TSS	NH-A	brain
32	chr2:151537800-151538200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:151538000-151538200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:151538000-151538400	Weak transcription	Fetal Intestine Small	intestine
35	chr2:151538000-151538800	Enhancers	NH-A	brain
36	chr2:151538200-151538600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:151538200-151538600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:151538200-151539200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:151538200-151539200	Weak transcription	HSMM	muscle
40	chr2:151538400-151539200	Enhancers	Fetal Intestine Small	intestine
41	chr2:151538600-151538800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:151538600-151538800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:151538800-151541600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:151538800-151544200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:151539200-151540400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:151539200-151544200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:151539400-151541800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr2:151539400-151541800	Weak transcription	NHDF-Ad	bronchial
49	chr2:151539400-151542800	Weak transcription	Hela-S3	cervix
50	chr2:151539400-151542800	Weak transcription	Osteobl	bone

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