Variant report

Variant	rs817399
Chromosome Location	chr1:85613551-85613552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85607229..85609639-chr1:85613340..85615534,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1674162	0.93[EUR][1000 genomes]
rs1674175	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17386490	0.87[EUR][1000 genomes]
rs4907025	0.91[EUR][1000 genomes]
rs61769452	0.87[EUR][1000 genomes]
rs61769454	0.85[EUR][1000 genomes]
rs817389	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817390	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817391	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817392	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817393	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817394	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817398	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817401	1.00[CEU][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817403	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs817404	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs817411	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817415	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817422	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817423	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817425	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817428	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817434	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817436	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817438	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817445	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817446	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs817447	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs817451	1.00[EUR][1000 genomes]
rs817453	1.00[EUR][1000 genomes]
rs817456	0.93[EUR][1000 genomes]
rs817457	0.83[EUR][1000 genomes]
rs860140	0.93[EUR][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85594800-85614400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:85603800-85614200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:85603800-85615600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:85603800-85618800	Weak transcription	Gastric	stomach
5	chr1:85603800-85632200	Weak transcription	Fetal Lung	lung
6	chr1:85608600-85614200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:85608600-85655200	Weak transcription	Aorta	Aorta
8	chr1:85608800-85629200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:85609200-85614200	Weak transcription	Left Ventricle	heart
10	chr1:85610400-85613800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:85610400-85614200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:85610400-85615600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:85610400-85647800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:85610600-85613800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:85610600-85613800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:85610600-85630600	Weak transcription	Fetal Intestine Small	intestine
17	chr1:85611200-85613800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:85611200-85615200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:85611400-85613600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:85611400-85613600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:85611400-85613800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:85611400-85614200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:85611400-85614400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:85611400-85617000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:85611400-85629600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:85612000-85614200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:85612800-85616000	Enhancers	GM12878-XiMat	blood
28	chr1:85613000-85614200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:85613200-85614800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:85613400-85614400	Weak transcription	NHLF	lung
31	chr1:85613400-85614800	Weak transcription	NHEK	skin

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