Variant report

Variant	rs57172552
Chromosome Location	chr12:68405454-68405455
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:68405131..68407341-chr12:68430769..68432626,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs4913391	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56370523	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57346651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315219	0.97[ASN][1000 genomes]
rs73324874	0.88[ASN][1000 genomes]
rs73324884	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73324885	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73324894	0.82[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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	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	chr12:68392600-68413800	Weak transcription	Primary T cells from cord blood	blood
2	chr12:68398400-68422200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:68404200-68406400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:68404400-68407000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:68404600-68406000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr12:68404600-68406400	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr12:68404800-68406400	Enhancers	Primary T cells fromperipheralblood	blood
8	chr12:68404800-68407800	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:68405000-68406400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:68405200-68406400	Enhancers	GM12878-XiMat	blood
11	chr12:68405200-68407200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:68405200-68407400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:68405400-68405600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:68405400-68405600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:68405400-68405600	Enhancers	HSMM	muscle
16	chr12:68405400-68405800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:68405400-68405800	Enhancers	NHDF-Ad	bronchial
18	chr12:68405400-68406000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:68405400-68406000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:68405400-68406200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:68405400-68406400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:68405400-68406400	Enhancers	Fetal Thymus	thymus
23	chr12:68405400-68406800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:68405400-68407200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:68405400-68407200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:68405400-68407600	Enhancers	Primary B cells from cord blood	blood
27	chr12:68405400-68407600	Enhancers	HSMMtube	muscle
28	chr12:68405400-68408000	Enhancers	Dnd41	blood

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