Variant report

Variant	rs744612
Chromosome Location	chr7:26812121-26812122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 164 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:162)

rs_ID	r²[population]
rs10085721	0.94[ASN][1000 genomes]
rs10224133	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10227140	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10231161	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10232697	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10232770	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10232778	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1023712	0.86[AFR][1000 genomes]
rs10237921	0.93[ASN][1000 genomes]
rs10238253	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10239608	0.93[ASN][1000 genomes]
rs10241952	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10245162	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10245367	0.93[ASN][1000 genomes]
rs10246641	0.93[ASN][1000 genomes]
rs10247509	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10249824	0.90[ASN][1000 genomes]
rs10250223	0.94[ASN][1000 genomes]
rs10255249	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10256561	0.93[ASN][1000 genomes]
rs10256799	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261915	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10263118	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10269731	0.94[ASN][1000 genomes]
rs10273468	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10276636	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1030644	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10807834	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10951145	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10951146	0.86[AFR][1000 genomes]
rs10951147	0.86[AFR][1000 genomes]
rs10951148	0.81[AFR][1000 genomes]
rs10951149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1123156	0.86[AFR][1000 genomes]
rs1123157	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1123158	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770043	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11772673	0.86[ASN][1000 genomes]
rs11773029	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11773050	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11977233	0.86[AFR][1000 genomes]
rs11980739	0.85[AFR][1000 genomes]
rs12532339	0.93[ASN][1000 genomes]
rs12535078	0.93[ASN][1000 genomes]
rs12668948	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12700755	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12700758	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12700759	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12700760	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12700761	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12700762	0.80[EUR][1000 genomes]
rs13186	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13234201	0.86[ASN][1000 genomes]
rs13234336	0.86[ASN][1000 genomes]
rs1468203	0.82[AFR][1000 genomes]
rs1548022	0.80[EUR][1000 genomes]
rs1548478	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1548479	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17372780	0.86[AFR][1000 genomes]
rs1859101	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2015543	0.89[ASN][1000 genomes]
rs2017794	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2023819	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs212840	0.92[EUR][1000 genomes]
rs212842	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs212844	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs212846	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs212847	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs212849	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs212852	0.90[EUR][1000 genomes]
rs212853	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs212855	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs212858	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2237328	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2282906	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2299102	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2391359	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2391360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28403911	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801846	0.89[ASN][1000 genomes]
rs3801847	0.94[ASN][1000 genomes]
rs3801848	0.94[ASN][1000 genomes]
rs3801853	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801854	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801860	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3801864	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3801866	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3801867	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3801868	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3823939	0.94[ASN][1000 genomes]
rs4345466	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4512299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4573150	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4719879	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4722631	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4722633	0.89[ASN][1000 genomes]
rs4722634	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5012512	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs503110	0.81[ASN][1000 genomes]
rs55649724	0.86[AFR][1000 genomes]
rs55836768	0.93[ASN][1000 genomes]
rs55904994	0.93[ASN][1000 genomes]
rs55959127	0.88[AFR][1000 genomes]
rs56359409	0.93[ASN][1000 genomes]
rs56374720	0.89[AFR][1000 genomes]
rs58988613	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs639221	0.81[AMR][1000 genomes]
rs6461961	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6461964	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6461965	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6461970	0.89[AFR][1000 genomes]
rs6461971	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6461973	0.93[ASN][1000 genomes]
rs6461974	0.89[ASN][1000 genomes]
rs6461975	0.91[ASN][1000 genomes]
rs6461976	0.82[ASN][1000 genomes]
rs6943568	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6943623	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6944529	0.93[ASN][1000 genomes]
rs6965167	0.93[ASN][1000 genomes]
rs6970591	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6973237	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs727449	0.84[AFR][1000 genomes]
rs73061889	0.84[AFR][1000 genomes]
rs73063604	0.88[AFR][1000 genomes]
rs73065526	0.93[ASN][1000 genomes]
rs744611	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs774367	0.81[ASN][1000 genomes]
rs7777316	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7777744	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7779604	0.93[ASN][1000 genomes]
rs7779843	0.93[ASN][1000 genomes]
rs7782621	0.84[AFR][1000 genomes]
rs7784206	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7784257	0.80[EUR][1000 genomes]
rs7784548	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7788165	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7793663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794399	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7798696	0.93[ASN][1000 genomes]
rs7799888	0.93[ASN][1000 genomes]
rs7802514	0.82[ASN][1000 genomes]
rs7802852	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7803699	0.89[AFR][1000 genomes]
rs7807640	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810109	0.86[ASN][1000 genomes]
rs7810127	0.86[ASN][1000 genomes]
rs7810179	0.81[EUR][1000 genomes]
rs7811764	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs891874	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs891875	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs891876	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs934410	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9648018	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9648019	0.84[AFR][1000 genomes]
rs9648020	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9648021	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9648330	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9648331	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9770851	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs989250	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[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
rs744612	SKAP2	cis	Whole Blood	GTEx

Chromatin state (count:26 , 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	chr7:26808000-26813400	Weak transcription	Ovary	ovary
4	chr7:26808000-26825200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:26808000-26854800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:26808800-26812200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:26809000-26814600	Strong transcription	Primary B cells from peripheral blood	blood
8	chr7:26809000-26815000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:26809200-26813600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr7:26809400-26816600	Strong transcription	Primary B cells from cord blood	blood
11	chr7:26809600-26824600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr7:26810200-26814800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:26810400-26829000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:26810600-26813000	Weak transcription	Fetal Stomach	stomach
15	chr7:26810600-26814200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr7:26810600-26835200	Weak transcription	Spleen	Spleen
17	chr7:26811600-26812800	Strong transcription	Primary hematopoietic stem cells	blood
18	chr7:26811800-26812400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr7:26811800-26812400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:26811800-26812800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:26812000-26812200	ZNF genes & repeats	Fetal Lung	lung
22	chr7:26812000-26812200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr7:26812000-26812400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:26812000-26812800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr7:26812000-26813000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:26812000-26813000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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