Variant report

Variant	rs17127113
Chromosome Location	chr12:39813124-39813125
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:39806881..39808791-chr12:39811167..39813335,2	K562	blood:
2	chr12:39811412..39814654-chr12:39833634..39837106,4	K562	blood:
3	chr12:39803978..39806554-chr12:39812297..39814697,2	MCF-7	breast:
4	chr12:39812598..39816422-chr12:39836371..39838590,3	MCF-7	breast:
5	chr12:39810025..39813517-chr12:39819590..39821395,3	MCF-7	breast:
6	chr12:39804679..39806522-chr12:39811533..39813150,2	K562	blood:
7	chr12:39811288..39814144-chr12:39836391..39839254,3	K562	blood:

Variant related genes	Relation type
ENSG00000139116	Chromatin interaction
ENSG00000252974	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1015483	1.00[CEU][hapmap]
rs12424130	1.00[CEU][hapmap]
rs12424375	1.00[CEU][hapmap]
rs17127032	1.00[YRI][hapmap]
rs17127096	1.00[CEU][hapmap]
rs17127112	1.00[CEU][hapmap]
rs17127131	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35844572	0.80[AFR][1000 genomes]
rs58466406	1.00[EUR][1000 genomes]
rs7308295	0.80[YRI][hapmap]

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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39785000-39829200	Weak transcription	K562	blood
2	chr12:39790000-39816200	Weak transcription	Right Ventricle	heart
3	chr12:39794200-39824800	Weak transcription	Right Atrium	heart
4	chr12:39795400-39816600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:39800800-39814800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:39801000-39815800	Weak transcription	Psoas Muscle	Psoas
7	chr12:39802400-39816000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:39806600-39834200	Weak transcription	Hela-S3	cervix
9	chr12:39808600-39814000	Weak transcription	Brain Angular Gyrus	brain
10	chr12:39808600-39814800	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:39808600-39821600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:39808600-39830800	Weak transcription	Fetal Brain Female	brain
13	chr12:39809400-39815200	Weak transcription	Left Ventricle	heart
14	chr12:39809600-39813600	Weak transcription	Placenta	Placenta
15	chr12:39809600-39813800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:39809800-39813600	Weak transcription	GM12878-XiMat	blood
17	chr12:39810000-39813600	Weak transcription	A549	lung
18	chr12:39810000-39821000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:39810200-39816000	Weak transcription	Fetal Heart	heart
20	chr12:39811400-39815400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:39811800-39814400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:39812400-39814200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:39812400-39815000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:39812600-39814200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:39812600-39820200	Weak transcription	HepG2	liver
26	chr12:39812800-39820200	Weak transcription	HMEC	breast
27	chr12:39813000-39813600	Strong transcription	Brain Germinal Matrix	brain
28	chr12:39813000-39813800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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