Variant report

Variant	rs58317460
Chromosome Location	chr1:211596279-211596280
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211591294..211593237-chr1:211594620..211596952,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56114647	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58281296	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58282668	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58393607	0.85[AFR][1000 genomes]
rs6684161	1.00[AMR][1000 genomes]
rs6698819	1.00[AMR][1000 genomes]
rs74137663	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74138736	0.91[AFR][1000 genomes]
rs74138737	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7554670	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762141	chr1:211538685-211603843	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	esv1824154	chr1:211565640-211614280	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
3	nsv945612	chr1:211593276-211615726	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211581400-211608200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr1:211589600-211608800	Weak transcription	GM12878-XiMat	blood
3	chr1:211590200-211601000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:211590400-211604400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:211590400-211607200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:211590400-211607600	Weak transcription	Left Ventricle	heart
7	chr1:211590400-211609000	Weak transcription	Primary B cells from cord blood	blood
8	chr1:211590600-211602400	Weak transcription	Liver	Liver
9	chr1:211590600-211605600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:211591000-211607400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:211592200-211605600	Weak transcription	Fetal Intestine Small	intestine
12	chr1:211594600-211599800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:211594600-211601400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:211594800-211605800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:211594800-211606200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:211594800-211607200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:211594800-211608400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:211595000-211603000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:211595200-211596400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:211595400-211605800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:211595800-211596400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:211596200-211596400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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