Variant report

Variant	rs12730114
Chromosome Location	chr1:151486026-151486027
allele	A/T
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151485882..151487565-chr1:151583414..151585697,2	MCF-7	breast:
2	chr1:151484738..151486460-chr1:151566819..151569782,2	MCF-7	breast:
3	chr1:151485152..151487043-chr1:151528542..151531345,2	MCF-7	breast:
4	chr1:151428938..151433041-chr1:151480813..151490135,53	MCF-7	breast:
5	chr1:151481429..151491154-chr1:151502501..151517487,49	MCF-7	breast:
6	chr1:151481542..151488437-chr1:151515636..151525415,14	MCF-7	breast:
7	chr1:151482538..151486660-chr1:151496961..151502245,5	MCF-7	breast:
8	chr1:151485273..151486153-chr9:129979565..129980370,2	MCF-7	breast:
9	chr1:151388224..151390291-chr1:151485508..151488200,2	MCF-7	breast:
10	chr1:11967458..11970072-chr1:151484306..151486601,2	MCF-7	breast:
11	chr1:151484895..151488476-chr1:151501295..151502821,3	MCF-7	breast:
12	chr1:151477348..151494376-chr1:151504804..151515249,50	MCF-7	breast:
13	chr1:151461959..151463906-chr1:151484479..151486691,3	MCF-7	breast:
14	chr1:151414283..151420812-chr1:151481565..151487481,13	MCF-7	breast:
15	chr1:151478802..151481504-chr1:151485653..151487936,2	K562	blood:
16	chr1:151030533..151032242-chr1:151484532..151486618,2	MCF-7	breast:
17	chr1:151484902..151486680-chr1:151588656..151591283,2	MCF-7	breast:
18	chr1:151253961..151255761-chr1:151484819..151487293,2	MCF-7	breast:
19	chr1:151483462..151487382-chr1:151518217..151524477,9	MCF-7	breast:
20	chr1:151284079..151286106-chr1:151485875..151487755,2	MCF-7	breast:
21	chr1:151414651..151422317-chr1:151482271..151486624,12	MCF-7	breast:
22	chr1:150958810..150961134-chr1:151484440..151487024,2	MCF-7	breast:
23	chr1:151484691..151486621-chr1:151962085..151964758,2	MCF-7	breast:
24	chr1:151042074..151044319-chr1:151484025..151486310,2	MCF-7	breast:
25	chr1:151485360..151486235-chr6:142698194..142698929,2	HCT-116	colon:
26	chr1:151484288..151487227-chr1:151592351..151595029,2	MCF-7	breast:
27	chr1:151485543..151487847-chr1:151566753..151569094,2	MCF-7	breast:
28	chr1:151484241..151487066-chr1:151733947..151738739,4	MCF-7	breast:
29	chr1:151427202..151436068-chr1:151477865..151490153,60	MCF-7	breast:
30	chr1:151483888..151486262-chr1:151734424..151737312,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000252840	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000223861	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000143376	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000207606	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000201801	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000232937	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1009289	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10127622	0.89[AMR][1000 genomes]
rs10788807	0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10788808	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10888418	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10888419	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11204834	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11204835	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11204837	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11204838	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11204839	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11583133	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12026585	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12032983	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12037100	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12118440	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12128578	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1547832	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1573129	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1573130	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2211435	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2298167	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2298168	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2337359	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61261719	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6675984	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7548090	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7552458	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151482400-151486200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr1:151483200-151486200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:151484200-151486400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:151484200-151486600	Bivalent/Poised TSS	Fetal Kidney	kidney
5	chr1:151484200-151487400	Flanking Active TSS	Liver	Liver
6	chr1:151484400-151486800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr1:151484600-151486200	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr1:151484600-151486400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:151484600-151486400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr1:151484600-151486600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr1:151484600-151486600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr1:151484600-151486800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:151484600-151512000	Weak transcription	Right Atrium	heart
14	chr1:151484800-151486200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr1:151484800-151486200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr1:151484800-151486400	Enhancers	Fetal Thymus	thymus
17	chr1:151484800-151486400	Enhancers	HUVEC	blood vessel
18	chr1:151484800-151486600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:151484800-151486600	Enhancers	Brain Cingulate Gyrus	brain
20	chr1:151484800-151487000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr1:151484800-151487200	Enhancers	A549	lung
22	chr1:151484800-151487400	Enhancers	HMEC	breast
23	chr1:151484800-151491200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:151485000-151486200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr1:151485000-151486200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr1:151485000-151486400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr1:151485000-151486400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:151485000-151486400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:151485000-151486400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:151485000-151486600	Enhancers	Primary hematopoietic stem cells	blood
31	chr1:151485000-151486600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:151485000-151486600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr1:151485000-151486600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr1:151485000-151486600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:151485000-151486800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:151485000-151487000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr1:151485000-151492400	Weak transcription	Ovary	ovary
38	chr1:151485200-151486200	Active TSS	Pancreas	Pancrea
39	chr1:151485200-151486400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:151485200-151486400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr1:151485200-151486400	Weak transcription	Lung	lung
42	chr1:151485200-151486400	Enhancers	Dnd41	blood
43	chr1:151485200-151486600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr1:151485200-151486600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr1:151485200-151486600	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr1:151485200-151486600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:151485200-151486600	Enhancers	GM12878-XiMat	blood
48	chr1:151485200-151487200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:151485200-151487200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:151485200-151511800	Weak transcription	Fetal Brain Female	brain

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