Variant report

Variant	rs17127115
Chromosome Location	chr12:39816474-39816475
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:39815775..39818623-chr12:39834712..39837857,3	MCF-7	breast:
2	chr12:39815681..39818065-chr12:39831801..39835369,3	K562	blood:
3	chr12:39814931..39819046-chr12:39820377..39824549,5	K562	blood:

Variant related genes	Relation type
ENSG00000252974	Chromatin interaction
ENSG00000139116	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11171669	0.81[ASN][1000 genomes]
rs11171732	0.92[AFR][1000 genomes]
rs11171794	0.92[AFR][1000 genomes]
rs11171834	0.92[AFR][1000 genomes]
rs11171844	0.81[AFR][1000 genomes]
rs11171940	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11171949	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11171955	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11171957	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11172024	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11172035	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11172082	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11172105	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11172109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11172168	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11172175	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11172204	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11172263	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11172347	0.85[EUR][1000 genomes]
rs11172359	0.85[EUR][1000 genomes]
rs11172373	0.85[EUR][1000 genomes]
rs11172471	0.85[EUR][1000 genomes]
rs11172474	0.85[EUR][1000 genomes]
rs11172502	0.85[EUR][1000 genomes]
rs11172566	0.85[EUR][1000 genomes]
rs11172603	0.81[EUR][1000 genomes]
rs11543371	0.85[EUR][1000 genomes]
rs12227092	0.85[EUR][1000 genomes]
rs12227642	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12228285	0.85[EUR][1000 genomes]
rs12228664	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12231250	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs17127059	0.83[AFR][1000 genomes]
rs17127072	0.83[AFR][1000 genomes]
rs17127119	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57785083	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs58125663	0.92[AFR][1000 genomes]
rs58648215	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs59380486	0.85[EUR][1000 genomes]
rs60505849	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61101304	0.92[AFR][1000 genomes]
rs61453715	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9788260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39785000-39829200	Weak transcription	K562	blood
2	chr12:39794200-39824800	Weak transcription	Right Atrium	heart
3	chr12:39795400-39816600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:39806600-39834200	Weak transcription	Hela-S3	cervix
5	chr12:39808600-39821600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:39808600-39830800	Weak transcription	Fetal Brain Female	brain
7	chr12:39810000-39821000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:39812600-39820200	Weak transcription	HepG2	liver
9	chr12:39812800-39820200	Weak transcription	HMEC	breast
10	chr12:39813600-39833400	Weak transcription	Brain Germinal Matrix	brain
11	chr12:39813800-39820000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:39814200-39821200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:39814200-39821400	Weak transcription	Placenta	Placenta
14	chr12:39814200-39825800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:39814400-39833800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:39814800-39820800	Weak transcription	A549	lung
17	chr12:39815000-39818200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:39815400-39817800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:39815800-39816600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr12:39816000-39817400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:39816000-39818400	Enhancers	Fetal Heart	heart
22	chr12:39816000-39834000	Weak transcription	Left Ventricle	heart
23	chr12:39816200-39817400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:39816200-39817400	Enhancers	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links