Variant report

Variant	rs57024323
Chromosome Location	chr12:51899768-51899769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51899584..51902405-chr12:51916895..51918412,2	K562	blood:
2	chr12:51898569..51901364-chr12:51922697..51925440,2	MCF-7	breast:
3	chr12:51899376..51901267-chr12:51902784..51904916,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17125850	0.88[ASN][1000 genomes]
rs17125880	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2271150	0.85[ASN][1000 genomes]
rs2279951	0.88[ASN][1000 genomes]
rs2292215	0.85[ASN][1000 genomes]
rs2292216	0.85[ASN][1000 genomes]
rs34555885	0.88[ASN][1000 genomes]
rs57960673	0.88[ASN][1000 genomes]
rs60368956	0.88[ASN][1000 genomes]
rs61736806	0.85[ASN][1000 genomes]
rs7294353	0.85[ASN][1000 genomes]
rs7301925	0.83[ASN][1000 genomes]
rs7971145	0.85[ASN][1000 genomes]
rs7974113	0.85[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51854600-51914200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:51855200-51906000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:51865600-51914600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:51867600-51906000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:51869600-51907400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:51869800-51901400	Weak transcription	Brain Anterior Caudate	brain
7	chr12:51870000-51912600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:51877200-51901800	Weak transcription	Fetal Stomach	stomach
9	chr12:51879200-51904400	Weak transcription	Dnd41	blood
10	chr12:51889600-51907400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:51891400-51901200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:51891400-51907200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:51891600-51901000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:51891600-51901200	Weak transcription	Brain Substantia Nigra	brain
15	chr12:51891600-51901400	Weak transcription	Primary T cells from cord blood	blood
16	chr12:51893800-51904600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:51894000-51901400	Weak transcription	Brain Angular Gyrus	brain
18	chr12:51896000-51903400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:51897800-51906400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:51898400-51906000	Strong transcription	Fetal Brain Female	brain
21	chr12:51898600-51902400	Enhancers	Fetal Brain Male	brain
22	chr12:51898600-51904600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:51899000-51900000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:51899200-51899800	Strong transcription	Brain Germinal Matrix	brain
25	chr12:51899200-51900000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:51899200-51900000	Strong transcription	Brain Hippocampus Middle	brain
27	chr12:51899200-51902000	Enhancers	Fetal Muscle Leg	muscle
28	chr12:51899200-51903200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:51899400-51900400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:51899400-51901200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:51899400-51902800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:51899400-51906400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:51899400-51907600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:51899600-51904800	Weak transcription	Ovary	ovary
35	chr12:51899600-51914200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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