Variant report

Variant	rs17163519
Chromosome Location	chr1:223010805-223010806
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2378614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28834670	1.00[EUR][1000 genomes]
rs73126884	1.00[EUR][1000 genomes]
rs73126893	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73126902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128611	1.00[EUR][1000 genomes]
rs73128618	1.00[EUR][1000 genomes]
rs73128629	1.00[EUR][1000 genomes]
rs73128632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128633	1.00[EUR][1000 genomes]
rs73128635	1.00[EUR][1000 genomes]
rs73128639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128643	1.00[EUR][1000 genomes]
rs73128645	1.00[EUR][1000 genomes]
rs73128668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128682	1.00[EUR][1000 genomes]
rs73128692	1.00[EUR][1000 genomes]
rs73130611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222989400-223026800	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:222990400-223027400	Weak transcription	Primary B cells from cord blood	blood
3	chr1:222991800-223017200	Weak transcription	Aorta	Aorta
4	chr1:222997000-223016600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:222999600-223015600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:223001800-223012000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:223001800-223012200	Weak transcription	Hela-S3	cervix
8	chr1:223002200-223017000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:223002600-223019800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:223003600-223013400	Weak transcription	Fetal Stomach	stomach
11	chr1:223003800-223011800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:223004000-223011400	Weak transcription	Pancreas	Pancrea
13	chr1:223007200-223017200	Weak transcription	Fetal Lung	lung
14	chr1:223007400-223012400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:223007400-223012400	Weak transcription	Gastric	stomach
16	chr1:223007400-223016200	Weak transcription	Fetal Intestine Large	intestine
17	chr1:223007800-223012200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:223007800-223016200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:223007800-223016800	Weak transcription	Fetal Intestine Small	intestine
20	chr1:223007800-223017400	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:223008000-223017000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:223008200-223013400	Weak transcription	HSMMtube	muscle
23	chr1:223008800-223011200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:223010000-223015200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr1:223010800-223015800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:223010800-223027600	Weak transcription	Primary B cells from peripheral blood	blood

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