Variant report

Variant	rs7811764
Chromosome Location	chr7:26742148-26742149
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 152 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:148)

rs_ID	r²[population]
rs10085721	0.86[ASN][1000 genomes]
rs10224133	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10227140	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10231161	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10232697	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10232770	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10232778	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10237921	0.84[ASN][1000 genomes]
rs10238253	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10239608	0.84[ASN][1000 genomes]
rs10241952	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1024454	0.81[EUR][1000 genomes]
rs10245162	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10245367	0.84[ASN][1000 genomes]
rs10246641	0.84[ASN][1000 genomes]
rs10247509	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10249824	0.82[ASN][1000 genomes]
rs10250223	0.86[ASN][1000 genomes]
rs10255249	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10256561	0.84[ASN][1000 genomes]
rs10256799	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10261915	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10263118	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10269731	0.86[ASN][1000 genomes]
rs10273468	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10276636	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1030644	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10807834	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10951145	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10951149	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1123157	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1123158	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11764558	0.81[EUR][1000 genomes]
rs11770043	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11770344	0.82[EUR][1000 genomes]
rs11772673	0.91[ASN][1000 genomes]
rs11773029	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11773050	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12532339	0.84[ASN][1000 genomes]
rs12535078	0.84[ASN][1000 genomes]
rs12668948	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12700754	0.82[EUR][1000 genomes]
rs12700755	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12700756	0.81[EUR][1000 genomes]
rs12700757	0.81[EUR][1000 genomes]
rs12700758	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12700759	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12700760	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12700761	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13186	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13234201	0.91[ASN][1000 genomes]
rs13234336	0.91[ASN][1000 genomes]
rs1548478	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1548479	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1859101	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2015543	0.89[ASN][1000 genomes]
rs2017794	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2023819	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs212840	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs212842	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs212844	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs212845	0.80[EUR][1000 genomes]
rs212846	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212847	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212849	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212851	0.80[EUR][1000 genomes]
rs212852	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs212853	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212854	0.80[EUR][1000 genomes]
rs212855	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212858	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237328	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282906	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2299101	0.82[EUR][1000 genomes]
rs2299102	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2391359	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2391360	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28403911	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3801846	0.80[ASN][1000 genomes]
rs3801847	0.86[ASN][1000 genomes]
rs3801848	0.86[ASN][1000 genomes]
rs3801853	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3801854	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3801855	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3801860	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3801864	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3801866	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3801867	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3801868	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3801872	0.82[EUR][1000 genomes]
rs3823939	0.86[ASN][1000 genomes]
rs4345466	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4512299	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4573150	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4719879	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4722628	0.80[EUR][1000 genomes]
rs4722631	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4722633	0.89[ASN][1000 genomes]
rs4722634	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5012512	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55836768	0.84[ASN][1000 genomes]
rs55904994	0.84[ASN][1000 genomes]
rs56359409	0.84[ASN][1000 genomes]
rs58988613	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6461961	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6461964	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6461965	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6461971	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6461973	0.84[ASN][1000 genomes]
rs6461974	0.80[ASN][1000 genomes]
rs6461975	0.83[ASN][1000 genomes]
rs6943568	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6943623	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6944529	0.84[ASN][1000 genomes]
rs6965167	0.84[ASN][1000 genomes]
rs6970591	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6973237	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6978504	0.86[ASN][1000 genomes]
rs73065526	0.84[ASN][1000 genomes]
rs744611	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs744612	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7777316	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7777744	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7779604	0.84[ASN][1000 genomes]
rs7779843	0.84[ASN][1000 genomes]
rs7784206	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7784548	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7788165	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793663	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7794399	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7795074	0.81[AFR][1000 genomes]
rs7798696	0.84[ASN][1000 genomes]
rs7799888	0.84[ASN][1000 genomes]
rs7802852	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7807640	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7810109	0.91[ASN][1000 genomes]
rs7810127	0.91[ASN][1000 genomes]
rs891874	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs891875	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs891876	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs934410	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9648018	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9648020	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9648021	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9648330	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9648331	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9770851	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs989250	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv830929	chr7:26587888-26749735	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv5672	chr7:26711462-26757891	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7811764	SKAP2	cis	Whole Blood	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26705000-26759600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:26729000-26756400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:26729200-26747000	Weak transcription	Primary B cells from cord blood	blood
4	chr7:26729200-26747000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr7:26729600-26750000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:26730000-26743800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:26730000-26747000	Weak transcription	Fetal Kidney	kidney
8	chr7:26731800-26743800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:26731800-26779200	Weak transcription	Spleen	Spleen
10	chr7:26732200-26744600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:26732200-26765000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:26737000-26744400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:26737000-26745200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:26738000-26744000	Weak transcription	Fetal Lung	lung
15	chr7:26740200-26743800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:26740400-26743400	Weak transcription	Adipose Nuclei	Adipose
17	chr7:26740400-26743600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:26740400-26782400	Weak transcription	Fetal Intestine Small	intestine
19	chr7:26740600-26745400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr7:26740800-26743600	Weak transcription	Fetal Stomach	stomach
21	chr7:26741000-26744200	Weak transcription	A549	lung
22	chr7:26741000-26745200	Weak transcription	HepG2	liver
23	chr7:26741800-26743000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:26742000-26742800	Strong transcription	Primary monocytes fromperipheralblood	blood

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