Variant report

Variant	rs57960673
Chromosome Location	chr12:51886496-51886497
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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]
rs60368956	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:29 , 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	chr12:51869400-51890200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:51869600-51907400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:51869800-51890200	Weak transcription	Brain Substantia Nigra	brain
9	chr12:51869800-51898000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:51869800-51898400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:51869800-51901400	Weak transcription	Brain Anterior Caudate	brain
12	chr12:51870000-51891000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:51870000-51912600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:51870600-51890800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:51877000-51899600	Weak transcription	NHLF	lung
16	chr12:51877200-51899000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:51877200-51901800	Weak transcription	Fetal Stomach	stomach
18	chr12:51879200-51904400	Weak transcription	Dnd41	blood
19	chr12:51879400-51890400	Weak transcription	Primary T cells from cord blood	blood
20	chr12:51880800-51888600	Weak transcription	Fetal Brain Female	brain
21	chr12:51881400-51890800	Weak transcription	Brain Germinal Matrix	brain
22	chr12:51883600-51891000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:51883800-51887600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:51883800-51888000	Weak transcription	Brain Angular Gyrus	brain
25	chr12:51883800-51890800	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:51883800-51893000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:51885200-51887000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:51885800-51893800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:51885800-51898400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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