Variant report

Variant	rs6656769
Chromosome Location	chr1:160915968-160915969
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	chr1:160915728..160918562-chr1:160922253..160924481,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10908815	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11265522	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11265526	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11265533	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11265534	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11265535	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12126310	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1981048	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2184066	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28368883	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34655593	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3829790	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3928803	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3928804	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4656968	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4656971	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4656972	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61802165	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6680969	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6691389	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7526396	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs955615	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	esv3430322	chr1:160851829-160920480	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6656769	RP11-312J18.6	cis	Thyroid	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160905800-160919800	Weak transcription	Right Atrium	heart
2	chr1:160911800-160920800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:160913200-160916400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:160913200-160916800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:160915000-160916600	Weak transcription	Fetal Intestine Small	intestine
6	chr1:160915200-160916800	Enhancers	A549	lung
7	chr1:160915400-160916000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:160915400-160916200	Enhancers	HMEC	breast
9	chr1:160915400-160916600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:160915400-160916600	Weak transcription	Fetal Heart	heart
11	chr1:160915400-160917800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:160915400-160918200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:160915400-160918800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:160915600-160916600	Weak transcription	K562	blood
15	chr1:160915600-160917800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:160915600-160917800	Weak transcription	Ovary	ovary
17	chr1:160915600-160918800	Weak transcription	Hela-S3	cervix
18	chr1:160915600-160919400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:160915800-160916000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:160915800-160916600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:160915800-160918000	Enhancers	NHEK	skin

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