Variant report

Variant	esv35134
Chromosome Location	chr2:151542492-151741492
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:53)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:151569398..151571442-chr2:151579997..151582186,2	MCF-7	breast:
2	chr2:151607201..151610194-chr2:151614017..151616219,2	K562	blood:
3	chr2:151634541..151636776-chr2:151640394..151644038,3	K562	blood:
4	chr2:151664077..151666029-chr2:151667999..151669580,2	K562	blood:
5	chr2:151616816..151619630-chr2:151619910..151622607,3	MCF-7	breast:
6	chr2:151669959..151672613-chr2:151673437..151676374,2	K562	blood:
7	chr2:151554399..151557033-chr2:151557508..151559022,2	MCF-7	breast:
8	chr2:151586036..151588410-chr2:151590838..151593388,2	MCF-7	breast:
9	chr2:151634541..151636776-chr2:151640394..151644038,3	K562	blood:
10	chr2:151679943..151682282-chr2:151683627..151685819,2	K562	blood:
11	chr2:151660723..151663706-chr2:151665493..151667253,2	K562	blood:
12	chr2:151554399..151557033-chr2:151557508..151559022,2	MCF-7	breast:
13	chr2:151468907..151471781-chr2:151558771..151560648,2	K562	blood:
14	chr2:151342790..151344508-chr2:151701178..151703599,2	MCF-7	breast:
15	chr2:151729118..151732985-chr2:151733017..151737026,4	K562	blood:
16	chr2:151669959..151672613-chr2:151673437..151676374,2	K562	blood:
17	chr2:151550317..151552227-chr2:151553148..151555899,3	MCF-7	breast:
18	chr2:151680782..151682381-chr2:151683775..151685819,2	K562	blood:
19	chr2:151729118..151732985-chr2:151733017..151737026,4	K562	blood:
20	chr2:151713893..151716276-chr2:151721161..151722735,2	K562	blood:
21	chr2:151664077..151666029-chr2:151667999..151669580,2	K562	blood:
22	chr2:151563813..151565858-chr2:151568466..151570901,2	MCF-7	breast:
23	chr2:151580206..151582720-chr2:151585105..151587713,2	K562	blood:
24	chr2:151680782..151682381-chr2:151683775..151685819,2	K562	blood:
25	chr2:151602745..151605688-chr2:151608426..151610874,3	MCF-7	breast:
26	chr2:151550317..151552227-chr2:151553148..151555899,3	MCF-7	breast:
27	chr2:151617268..151619341-chr2:151619965..151622687,3	MCF-7	breast:
28	chr2:151602745..151605688-chr2:151608426..151610874,3	MCF-7	breast:
29	chr2:151563813..151565858-chr2:151568466..151570901,2	MCF-7	breast:
30	chr2:151586036..151588410-chr2:151590838..151593388,2	MCF-7	breast:
31	chr2:151541056..151543593-chr2:151547271..151548987,2	K562	blood:
32	chr2:151679943..151682282-chr2:151683627..151685819,2	K562	blood:
33	chr2:151541056..151543593-chr2:151547271..151548987,2	K562	blood:
34	chr2:151661353..151663578-chr2:151667658..151669550,3	K562	blood:
35	chr2:151580206..151582720-chr2:151585105..151587713,2	K562	blood:
36	chr18:11001924..11002437-chr2:151673182..151673730,2	MCF-7	breast:
37	chr2:151607201..151610194-chr2:151614017..151616219,2	K562	blood:
38	chr2:151616816..151619630-chr2:151619910..151622607,3	MCF-7	breast:
39	chr2:151713893..151716276-chr2:151721161..151722735,2	K562	blood:
40	chr10:5933821..5935712-chr2:151735859..151737363,2	K562	blood:
41	chr2:151660723..151663706-chr2:151665493..151667253,2	K562	blood:
42	chr2:151726245..151728996-chr2:151735766..151738645,2	K562	blood:
43	chr2:151726245..151728996-chr2:151735766..151738645,2	K562	blood:
44	chr2:151661353..151663578-chr2:151667658..151669550,3	K562	blood:
45	chr2:151718532..151720265-chr2:151722000..151724171,2	K562	blood:
46	chr2:151617268..151619341-chr2:151619965..151622687,3	MCF-7	breast:
47	chr2:151543063..151545209-chr2:151589638..151591531,2	MCF-7	breast:
48	chr2:151343448..151345424-chr2:151666040..151668021,2	MCF-7	breast:
49	chr2:151543063..151545209-chr2:151589638..151591531,2	MCF-7	breast:
50	chr2:151569398..151571442-chr2:151579997..151582186,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RND3-6	chr2:151564830-151565082	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	chr2:151565085-151565086	FPKM1_group_17405_transcript_1

No data

Variant related genes	Relation type
ENSG00000115963	chromatin interactions

Extended variants
information (count: 6265 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:6265 , 50 per page) page: 1 2 3 4 5 6 7 ... 126

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532811729	chr2:151542522-151542523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192718409	chr2:151542542-151542543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184064854	chr2:151542550-151542551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373742391	chr2:151542565-151542566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76131037	chr2:151542707-151542708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574893520	chr2:151542759-151542760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201605213	chr2:151542771-151542772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10195931	chr2:151542804-151542805	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs6706427	chr2:151542873-151542874	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs370410816	chr2:151542874-151542875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552942500	chr2:151542882-151542883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs151061563	chr2:151542901-151542902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531894003	chr2:151542917-151542918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78120529	chr2:151542987-151542988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116169126	chr2:151542990-151542991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13028819	chr2:151543074-151543075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs58532065	chr2:151543191-151543192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147884162	chr2:151543213-151543214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566173434	chr2:151543313-151543314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538257332	chr2:151543370-151543371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558386037	chr2:151543384-151543385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188359217	chr2:151543393-151543394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77681541	chr2:151543479-151543480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537619257	chr2:151543482-151543483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs367913784	chr2:151543531-151543532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371652942	chr2:151543597-151543598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374145156	chr2:151543635-151543636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569723150	chr2:151543637-151543638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180774065	chr2:151543659-151543660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540765566	chr2:151543756-151543757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368325802	chr2:151543808-151543809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186577792	chr2:151543814-151543815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534772127	chr2:151543838-151543839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190339592	chr2:151543845-151543846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537057125	chr2:151543847-151543848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563146429	chr2:151543855-151543856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114621352	chr2:151543859-151543860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548477973	chr2:151543864-151543865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562354453	chr2:151543941-151543942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs36104308	chr2:151543955-151543956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558490775	chr2:151544025-151544026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577082536	chr2:151544037-151544038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529743642	chr2:151544069-151544070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142241793	chr2:151544094-151544095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566233120	chr2:151544129-151544130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553511891	chr2:151544167-151544168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551772311	chr2:151544197-151544198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113775131	chr2:151544211-151544212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182221604	chr2:151544267-151544268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs578071029	chr2:151544303-151544304	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:815 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151534400-151557800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:151538800-151544200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:151539200-151544200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:151539400-151542800	Weak transcription	Hela-S3	cervix
5	chr2:151539400-151542800	Weak transcription	Osteobl	bone
6	chr2:151539400-151543000	Weak transcription	NHLF	lung
7	chr2:151539600-151545800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:151541000-151545800	Weak transcription	HSMM	muscle
9	chr2:151541400-151548200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:151541600-151542600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:151541600-151543800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:151541800-151543600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:151542000-151544600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:151542400-151545000	Weak transcription	NHDF-Ad	bronchial
15	chr2:151542600-151547400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:151542800-151543200	Enhancers	Hela-S3	cervix
17	chr2:151542800-151546200	Enhancers	Osteobl	bone
18	chr2:151543000-151543600	Enhancers	NHLF	lung
19	chr2:151543200-151544200	Weak transcription	Hela-S3	cervix
20	chr2:151543600-151544600	Weak transcription	NHLF	lung
21	chr2:151543600-151545600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:151543800-151544200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:151544200-151544600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr2:151544200-151544800	Enhancers	Hela-S3	cervix
25	chr2:151544200-151545000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:151544200-151545200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:151544200-151545600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:151544600-151545200	Enhancers	NHLF	lung
29	chr2:151544600-151545600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:151544600-151545800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:151544800-151545000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:151545000-151545200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:151545000-151545200	Enhancers	Adipose Nuclei	Adipose
34	chr2:151545000-151545200	Enhancers	NHDF-Ad	bronchial
35	chr2:151545000-151545400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:151545000-151545600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:151545200-151545600	Weak transcription	NHDF-Ad	bronchial
38	chr2:151545200-151545800	Weak transcription	NHLF	lung
39	chr2:151545200-151546000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:151545400-151546600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:151545600-151545800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:151545600-151546200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:151545600-151546200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:151545600-151546200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:151545600-151546400	Enhancers	Dnd41	blood
46	chr2:151545600-151547000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr2:151545600-151547600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:151545600-151547600	Enhancers	NHDF-Ad	bronchial
49	chr2:151545800-151546000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:151545800-151546000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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