Variant report

Variant	rs687254
Chromosome Location	chr7:26819774-26819775
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1024454	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11764558	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11770344	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12700754	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12700756	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12700757	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12700762	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1548022	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1548480	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2299101	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3801872	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4722632	0.82[ASN][1000 genomes]
rs4722637	0.84[ASN][1000 genomes]
rs484426	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs498561	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs643036	0.80[AMR][1000 genomes]
rs648297	0.80[AMR][1000 genomes]
rs687603	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7784257	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7795313	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7810179	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][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	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs687254	SKAP2	cis	Whole Blood	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26806600-26829400	Weak transcription	Adipose Nuclei	Adipose
2	chr7:26807800-26825400	Weak transcription	Lung	lung
3	chr7:26808000-26825200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:26808000-26854800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:26809600-26824600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:26810400-26829000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:26810600-26835200	Weak transcription	Spleen	Spleen
8	chr7:26812200-26820400	Weak transcription	Fetal Lung	lung
9	chr7:26812400-26822200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:26812400-26849000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr7:26812800-26822000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:26812800-26822200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr7:26812800-26841600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:26813000-26834000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:26813000-26871200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:26814800-26822600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:26814800-26823600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:26815000-26823800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:26815200-26823200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:26816600-26822600	Weak transcription	Primary B cells from cord blood	blood
21	chr7:26816600-26822600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr7:26816600-26834000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr7:26816800-26822200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr7:26819000-26820600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:26819200-26820000	Enhancers	Stomach Mucosa	stomach

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