Variant report

Variant	rs17163574
Chromosome Location	chr1:223093117-223093118
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	chr1:223092526..223094736-chr1:223096745..223098289,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17163507	1.00[AMR][1000 genomes]
rs17163521	1.00[AMR][1000 genomes]
rs74145707	1.00[AMR][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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17163574	SKAP1	trans	lymphoblastoid	seeQTL
rs17163574	CXCL14	trans	lymphoblastoid	seeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223083200-223101400	Weak transcription	Fetal Heart	heart
2	chr1:223083600-223101600	Weak transcription	Fetal Stomach	stomach
3	chr1:223089000-223096400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:223090800-223101600	Weak transcription	Pancreas	Pancrea
5	chr1:223091000-223094800	Weak transcription	Stomach Mucosa	stomach
6	chr1:223091200-223097000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:223092200-223093200	Flanking Active TSS	Osteobl	bone
8	chr1:223092400-223098600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:223092400-223101400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:223092400-223116200	Weak transcription	Primary B cells from cord blood	blood
11	chr1:223092600-223094000	Enhancers	HSMMtube	muscle
12	chr1:223092600-223095400	Weak transcription	Ovary	ovary
13	chr1:223092800-223093200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:223092800-223093200	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr1:223092800-223094000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:223092800-223094000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:223092800-223094000	Enhancers	Fetal Lung	lung
18	chr1:223092800-223094000	Enhancers	HSMM	muscle
19	chr1:223092800-223096600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:223093000-223093400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:223093000-223093400	Enhancers	Rectal Smooth Muscle	rectum
22	chr1:223093000-223093400	Enhancers	NHEK	skin
23	chr1:223093000-223094000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:223093000-223094000	Enhancers	NHLF	lung
25	chr1:223093000-223094600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr1:223093000-223095400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:223093000-223097200	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:223093000-223097400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:223093000-223101200	Weak transcription	Adipose Nuclei	Adipose

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