Variant report

Variant	rs1334144
Chromosome Location	chr1:86893284-86893285
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	chr1:86892715..86895192-chr1:86898265..86899891,2	K562	blood:
2	chr1:86891052..86893486-chr1:86893692..86895662,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10493789	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10873780	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10873782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161818	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11161819	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1158505	0.98[AFR][1000 genomes]
rs1158506	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1182102	0.90[ASN][1000 genomes]
rs1334143	0.97[AFR][1000 genomes]
rs1334147	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2104962	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2151709	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2390055	0.81[ASN][1000 genomes]
rs2390056	0.81[ASN][1000 genomes]
rs3765975	0.97[AFR][1000 genomes]
rs4288573	0.85[AFR][1000 genomes]
rs883200	0.98[AFR][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	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86882200-86894800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:86887200-86895000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:86888000-86894800	Weak transcription	NHDF-Ad	bronchial
4	chr1:86888200-86894600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:86889400-86894400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:86889800-86895200	Weak transcription	Psoas Muscle	Psoas
7	chr1:86890200-86895200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:86890400-86895000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:86890600-86894600	Weak transcription	Osteobl	bone
10	chr1:86890600-86894800	Weak transcription	Adipose Nuclei	Adipose
11	chr1:86890600-86903000	Weak transcription	Esophagus	oesophagus
12	chr1:86890800-86894400	Weak transcription	Hela-S3	cervix
13	chr1:86890800-86894600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:86890800-86894600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:86891600-86894800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:86892000-86894400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:86893000-86894000	Weak transcription	HMEC	breast
18	chr1:86893000-86894400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:86893000-86894600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:86893000-86894600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:86893000-86894800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:86893000-86895200	Genic enhancers	NHEK	skin

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