Variant report

Variant	rs7810179
Chromosome Location	chr7:26811991-26811992
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10224133	0.81[EUR][1000 genomes]
rs10227140	0.80[EUR][1000 genomes]
rs10232697	0.81[EUR][1000 genomes]
rs10238253	0.82[EUR][1000 genomes]
rs10241952	0.82[EUR][1000 genomes]
rs1024454	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10245162	0.82[EUR][1000 genomes]
rs10247509	0.81[EUR][1000 genomes]
rs10255249	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10256799	0.82[EUR][1000 genomes]
rs10261915	0.82[EUR][1000 genomes]
rs10273468	0.81[EUR][1000 genomes]
rs10276636	0.81[EUR][1000 genomes]
rs1030644	0.81[EUR][1000 genomes]
rs10807834	0.83[AFR][1000 genomes]
rs10951149	0.82[EUR][1000 genomes]
rs1123157	0.82[EUR][1000 genomes]
rs1123158	0.82[EUR][1000 genomes]
rs11764558	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11770043	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs11770344	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11773029	0.81[EUR][1000 genomes]
rs11773050	0.81[EUR][1000 genomes]
rs12700754	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12700756	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12700757	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12700758	0.80[EUR][1000 genomes]
rs12700759	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12700760	0.81[EUR][1000 genomes]
rs12700761	0.81[EUR][1000 genomes]
rs12700762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1548022	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1548480	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1859101	0.81[EUR][1000 genomes]
rs2017794	0.81[EUR][1000 genomes]
rs2023819	0.80[EUR][1000 genomes]
rs2023821	0.91[EUR][1000 genomes]
rs212845	0.93[EUR][1000 genomes]
rs212851	0.93[EUR][1000 genomes]
rs212854	0.93[EUR][1000 genomes]
rs2299101	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2391359	0.80[EUR][1000 genomes]
rs2391360	0.82[EUR][1000 genomes]
rs28403911	0.82[EUR][1000 genomes]
rs3801853	0.82[EUR][1000 genomes]
rs3801854	0.81[EUR][1000 genomes]
rs3801855	0.82[EUR][1000 genomes]
rs3801860	0.80[EUR][1000 genomes]
rs3801864	0.81[EUR][1000 genomes]
rs3801872	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4345466	0.82[EUR][1000 genomes]
rs4512299	0.82[EUR][1000 genomes]
rs4573150	0.80[EUR][1000 genomes]
rs4722628	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4722632	0.87[ASN][1000 genomes]
rs4722634	0.80[EUR][1000 genomes]
rs4722637	0.89[ASN][1000 genomes]
rs484426	0.84[AMR][1000 genomes]
rs498561	0.84[AMR][1000 genomes]
rs5012512	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6461964	0.84[AFR][1000 genomes]
rs6461965	0.81[EUR][1000 genomes]
rs6461971	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs687254	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs687603	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6970591	0.81[EUR][1000 genomes]
rs6973237	0.81[EUR][1000 genomes]
rs744611	0.82[EUR][1000 genomes]
rs744612	0.81[EUR][1000 genomes]
rs7777316	0.81[EUR][1000 genomes]
rs7784206	0.83[EUR][1000 genomes]
rs7784257	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7784548	0.81[EUR][1000 genomes]
rs7793663	0.81[EUR][1000 genomes]
rs7795313	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7802771	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7807640	0.82[EUR][1000 genomes]
rs891874	0.82[EUR][1000 genomes]
rs891875	0.82[EUR][1000 genomes]
rs891876	0.82[EUR][1000 genomes]
rs934410	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9648018	0.81[EUR][1000 genomes]
rs9648020	0.81[EUR][1000 genomes]
rs9648330	0.81[EUR][1000 genomes]
rs9648331	0.80[EUR][1000 genomes]
rs989250	0.80[EUR][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
rs7810179	SKAP2	cis	Whole Blood	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26750400-26812000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:26797800-26812000	Weak transcription	Fetal Lung	lung
3	chr7:26799800-26812000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:26806600-26829400	Weak transcription	Adipose Nuclei	Adipose
5	chr7:26807800-26825400	Weak transcription	Lung	lung
6	chr7:26808000-26813400	Weak transcription	Ovary	ovary
7	chr7:26808000-26825200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:26808000-26854800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:26808800-26812000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:26808800-26812200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:26809000-26814600	Strong transcription	Primary B cells from peripheral blood	blood
12	chr7:26809000-26815000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:26809200-26813600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr7:26809400-26816600	Strong transcription	Primary B cells from cord blood	blood
15	chr7:26809600-26824600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr7:26810200-26814800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:26810400-26829000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:26810600-26812000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:26810600-26812000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:26810600-26813000	Weak transcription	Fetal Stomach	stomach
21	chr7:26810600-26814200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr7:26810600-26835200	Weak transcription	Spleen	Spleen
23	chr7:26811600-26812800	Strong transcription	Primary hematopoietic stem cells	blood
24	chr7:26811800-26812400	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr7:26811800-26812400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:26811800-26812800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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