Variant report

Variant	rs17163564
Chromosome Location	chr1:223087894-223087895
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17163548	0.81[ASN][1000 genomes]
rs17163550	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs17163557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17163559	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2609385	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2609386	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2609388	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2609390	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2609399	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2609400	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2609403	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2609405	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2609406	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2609407	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2789961	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2789966	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2789967	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2789975	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2841041	0.82[EUR][1000 genomes]
rs35185132	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73128670	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223067800-223089400	Weak transcription	Fetal Intestine Small	intestine
2	chr1:223071600-223089600	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:223071600-223092400	Weak transcription	Ovary	ovary
4	chr1:223071800-223089800	Weak transcription	Fetal Lung	lung
5	chr1:223078200-223090600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:223083200-223090200	Weak transcription	Esophagus	oesophagus
7	chr1:223083200-223090400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:223083200-223101400	Weak transcription	Fetal Heart	heart
9	chr1:223083400-223089600	Weak transcription	Psoas Muscle	Psoas
10	chr1:223083400-223089600	Weak transcription	Right Atrium	heart
11	chr1:223083400-223090400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:223083600-223090600	Weak transcription	Lung	lung
13	chr1:223083600-223101600	Weak transcription	Fetal Stomach	stomach
14	chr1:223083800-223088000	Weak transcription	Left Ventricle	heart
15	chr1:223084000-223088400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:223084200-223088600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:223084400-223088200	Weak transcription	HSMM	muscle
18	chr1:223084400-223088200	Weak transcription	HSMMtube	muscle
19	chr1:223084400-223088400	Weak transcription	Hela-S3	cervix
20	chr1:223084400-223088600	Weak transcription	NHEK	skin
21	chr1:223084800-223088000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:223085200-223089600	Weak transcription	Pancreas	Pancrea
23	chr1:223085400-223088000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:223085400-223088400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:223085800-223088200	Weak transcription	Stomach Mucosa	stomach
26	chr1:223085800-223089600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:223086200-223088400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:223086200-223090000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:223086400-223088000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:223086400-223088400	Weak transcription	NH-A	brain
31	chr1:223086600-223088200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:223087400-223090400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:223087600-223089000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:223087800-223089000	Enhancers	Osteobl	bone
35	chr1:223087800-223089200	Enhancers	NHDF-Ad	bronchial
36	chr1:223087800-223089800	Enhancers	NHLF	lung
37	chr1:223087800-223090200	Weak transcription	Thymus	Thymus

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