Variant report

Variant	rs4722632
Chromosome Location	chr7:26780826-26780827
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1024454	0.95[ASN][1000 genomes]
rs11764558	0.95[ASN][1000 genomes]
rs11770344	0.93[ASN][1000 genomes]
rs12700754	0.93[ASN][1000 genomes]
rs12700756	0.92[ASN][1000 genomes]
rs12700757	0.96[ASN][1000 genomes]
rs12700762	0.91[ASN][1000 genomes]
rs1548022	0.90[ASN][1000 genomes]
rs1548480	0.93[ASN][1000 genomes]
rs212837	0.82[ASN][1000 genomes]
rs212845	0.85[ASN][1000 genomes]
rs212851	0.85[ASN][1000 genomes]
rs212854	0.85[ASN][1000 genomes]
rs2299101	0.91[ASN][1000 genomes]
rs2893256	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3801872	0.94[ASN][1000 genomes]
rs4722628	0.87[ASN][1000 genomes]
rs4722637	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs687254	0.82[ASN][1000 genomes]
rs757129	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7784257	0.89[ASN][1000 genomes]
rs7795313	0.96[ASN][1000 genomes]
rs7802771	0.87[ASN][1000 genomes]
rs7810179	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv1018125	chr7:26745074-26789814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4722632	SKAP2	cis	Whole Blood	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26740400-26782400	Weak transcription	Fetal Intestine Small	intestine
2	chr7:26749600-26781000	Weak transcription	NHEK	skin
3	chr7:26750400-26812000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:26753600-26782200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:26754400-26782400	Weak transcription	Fetal Stomach	stomach
6	chr7:26754800-26783200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:26755600-26782400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:26773400-26781000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr7:26776000-26781000	Weak transcription	Colonic Mucosa	Colon
10	chr7:26776200-26800000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:26777000-26782800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:26777200-26781000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:26777800-26782000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:26779200-26783600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:26779200-26787200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:26779400-26782800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:26779600-26781200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:26779600-26781400	Weak transcription	Fetal Lung	lung
19	chr7:26779600-26782200	Weak transcription	Adipose Nuclei	Adipose
20	chr7:26779600-26810600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:26779800-26782800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:26779800-26798600	Weak transcription	Primary B cells from cord blood	blood
23	chr7:26779800-26809000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr7:26780200-26783400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:26780200-26784200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr7:26780600-26782400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr7:26780800-26797400	Weak transcription	Primary monocytes fromperipheralblood	blood

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