Variant report

Variant	rs60368956
Chromosome Location	chr12:51898512-51898513
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51896929..51898933-chr12:51913039..51915806,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17125850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17125880	0.97[ASN][1000 genomes]
rs2271150	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2279951	1.00[ASN][1000 genomes]
rs2292215	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2292216	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34555885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57024323	0.88[ASN][1000 genomes]
rs57960673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61736806	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7294353	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7301925	0.95[ASN][1000 genomes]
rs7958793	0.86[ASN][1000 genomes]
rs7959067	0.86[ASN][1000 genomes]
rs7971145	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7974113	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038285	chr12:51762953-51916723	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv519438	chr12:51837789-51900105	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51853400-51898600	Weak transcription	Fetal Brain Male	brain
2	chr12:51854600-51914200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:51855200-51906000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:51865600-51914600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:51867600-51906000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:51869600-51907400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:51869800-51901400	Weak transcription	Brain Anterior Caudate	brain
8	chr12:51870000-51912600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:51877000-51899600	Weak transcription	NHLF	lung
10	chr12:51877200-51899000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:51877200-51901800	Weak transcription	Fetal Stomach	stomach
12	chr12:51879200-51904400	Weak transcription	Dnd41	blood
13	chr12:51888200-51899000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:51889600-51907400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:51891400-51899000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:51891400-51901200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:51891400-51907200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:51891600-51899200	Weak transcription	Brain Germinal Matrix	brain
19	chr12:51891600-51901000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:51891600-51901200	Weak transcription	Brain Substantia Nigra	brain
21	chr12:51891600-51901400	Weak transcription	Primary T cells from cord blood	blood
22	chr12:51893800-51899200	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:51893800-51904600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:51894000-51901400	Weak transcription	Brain Angular Gyrus	brain
25	chr12:51895400-51899200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:51896000-51903400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:51897800-51906400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr12:51898000-51898600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:51898200-51898800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:51898400-51898800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:51898400-51899400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr12:51898400-51899600	Enhancers	Ovary	ovary
33	chr12:51898400-51906000	Strong transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links