Variant report

Variant	rs17163554
Chromosome Location	chr1:223082643-223082644
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17011848	1.00[ASN][1000 genomes]
rs2378616	1.00[ASN][1000 genomes]
rs61837499	1.00[ASN][1000 genomes]
rs61837506	1.00[ASN][1000 genomes]
rs61840884	0.83[EUR][1000 genomes]
rs7531333	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv873207	chr1:223078802-223292632	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223055800-223082800	Weak transcription	Fetal Heart	heart
2	chr1:223065200-223083000	Weak transcription	Aorta	Aorta
3	chr1:223067800-223089400	Weak transcription	Fetal Intestine Small	intestine
4	chr1:223068200-223083000	Weak transcription	Fetal Stomach	stomach
5	chr1:223071600-223082800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:223071600-223082800	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:223071600-223083000	Weak transcription	HSMM	muscle
8	chr1:223071600-223089600	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:223071600-223092400	Weak transcription	Ovary	ovary
10	chr1:223071800-223082800	Weak transcription	Right Atrium	heart
11	chr1:223071800-223089800	Weak transcription	Fetal Lung	lung
12	chr1:223073200-223083200	Weak transcription	Left Ventricle	heart
13	chr1:223078200-223090600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:223082200-223083200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:223082600-223084200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr1:223082600-223084400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr1:223082600-223084400	Enhancers	Hela-S3	cervix
18	chr1:223082600-223086200	Enhancers	NHDF-Ad	bronchial
19	chr1:223082600-223086400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:223082600-223086800	Enhancers	Osteobl	bone

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