Variant report

Variant	rs10504993
Chromosome Location	chr8:100609297-100609298
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:100607857..100609807-chr8:100619167..100621104,2	K562	blood:
2	chr8:100607378..100609807-chr8:100619167..100621147,2	K562	blood:

Extended variants
information (count: 167 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs1027243	0.83[ASN][1000 genomes]
rs10504994	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10955213	1.00[JPT][hapmap]
rs10955214	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10955215	1.00[JPT][hapmap]
rs10955216	0.97[ASN][1000 genomes]
rs10955218	0.99[ASN][1000 genomes]
rs10955219	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1117459	0.88[ASN][1000 genomes]
rs11787264	0.97[ASN][1000 genomes]
rs12541307	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12541910	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12542004	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12542214	1.00[JPT][hapmap]
rs12543912	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12544405	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12544690	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12545238	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12546122	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12546643	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12547022	0.99[ASN][1000 genomes]
rs12548482	0.97[ASN][1000 genomes]
rs12549452	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549477	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12550139	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12676915	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12677357	0.99[ASN][1000 genomes]
rs1386373	0.96[ASN][1000 genomes]
rs1386375	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1388657	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1449784	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1449785	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1449792	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1487022	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1487024	0.97[ASN][1000 genomes]
rs1502132	0.91[ASN][1000 genomes]
rs1545959	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1615498	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1616204	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1617299	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1667631	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1667634	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1667635	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1667637	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1667638	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1667639	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1667642	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1667643	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1667644	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16897430	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16897435	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16897440	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16897453	0.97[ASN][1000 genomes]
rs16897473	0.99[ASN][1000 genomes]
rs16897489	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897493	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897501	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897514	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16897517	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16897526	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16897527	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16897528	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16897533	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16897536	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16897542	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16897546	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1788143	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1788145	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1788146	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1788147	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1788148	0.82[EUR][1000 genomes]
rs1788151	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1788153	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1788154	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1788156	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1788158	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1788162	0.81[EUR][1000 genomes]
rs1825754	0.89[ASN][1000 genomes]
rs1825755	0.96[ASN][1000 genomes]
rs1844947	0.85[ASN][1000 genomes]
rs1949123	0.96[ASN][1000 genomes]
rs2035617	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2035618	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2167102	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2280060	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2442757	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2510201	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2510203	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3103100	0.89[ASN][1000 genomes]
rs3103103	0.89[ASN][1000 genomes]
rs3103702	1.00[JPT][hapmap]
rs3103723	0.85[ASN][1000 genomes]
rs3103724	0.85[ASN][1000 genomes]
rs3105168	0.89[ASN][1000 genomes]
rs3105169	0.89[ASN][1000 genomes]
rs3105170	0.89[ASN][1000 genomes]
rs3105174	0.89[ASN][1000 genomes]
rs3105176	0.90[ASN][1000 genomes]
rs3105177	0.90[ASN][1000 genomes]
rs3105198	0.81[ASN][1000 genomes]
rs3105201	0.85[ASN][1000 genomes]
rs3105203	0.85[ASN][1000 genomes]
rs3105204	0.85[ASN][1000 genomes]
rs3105205	0.83[ASN][1000 genomes]
rs3134150	0.80[ASN][1000 genomes]
rs3134151	1.00[JPT][hapmap]
rs3134153	1.00[JPT][hapmap]
rs3134156	0.83[ASN][1000 genomes]
rs3134158	0.86[ASN][1000 genomes]
rs3134162	0.88[ASN][1000 genomes]
rs3134166	0.89[ASN][1000 genomes]
rs3134167	0.89[ASN][1000 genomes]
rs3134168	0.90[ASN][1000 genomes]
rs3134171	1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs34273034	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34966198	0.81[ASN][1000 genomes]
rs35462366	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4391399	0.99[ASN][1000 genomes]
rs57281571	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58152103	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6468690	1.00[JPT][hapmap]
rs6468691	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6986467	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7004966	0.94[ASN][1000 genomes]
rs7008019	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7009315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7016477	0.89[ASN][1000 genomes]
rs717365	1.00[JPT][hapmap]
rs72674627	0.80[ASN][1000 genomes]
rs72674643	0.94[ASN][1000 genomes]
rs72674647	0.95[ASN][1000 genomes]
rs72674650	0.96[ASN][1000 genomes]
rs72674652	0.97[ASN][1000 genomes]
rs72674679	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674684	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674687	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674689	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72674702	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72676209	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72676216	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72676220	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72676221	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72676228	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7462767	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7816355	0.97[ASN][1000 genomes]
rs7816771	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816837	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7829651	0.98[ASN][1000 genomes]
rs7832109	0.97[ASN][1000 genomes]
rs7835824	0.97[ASN][1000 genomes]
rs7837577	0.95[ASN][1000 genomes]
rs7838809	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9693360	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1022914	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv539695	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv891226	chr8:100295634-100708595	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv891227	chr8:100295634-100743556	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
7	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	esv2758167	chr8:100404151-100838624	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	esv2759633	chr8:100404151-100838624	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv933879	chr8:100417371-100622310	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1029616	chr8:100442135-100796643	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1023922	chr8:100474230-100702005	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
13	nsv831408	chr8:100523523-100721507	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1033795	chr8:100557344-100666640	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10504993	ARHGEF12	trans	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100560400-100619600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:100581800-100612400	Weak transcription	HSMMtube	muscle
3	chr8:100582000-100610400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:100586600-100617400	Weak transcription	Fetal Kidney	kidney
5	chr8:100590000-100612800	Weak transcription	Brain Substantia Nigra	brain
6	chr8:100590800-100610600	Weak transcription	Gastric	stomach
7	chr8:100591400-100609600	Weak transcription	Brain Hippocampus Middle	brain
8	chr8:100596800-100618800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:100597400-100612600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr8:100598400-100611200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:100598400-100612000	Weak transcription	Fetal Lung	lung
12	chr8:100598400-100618000	Weak transcription	Aorta	Aorta
13	chr8:100598400-100620800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr8:100598400-100622800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr8:100598400-100631200	Weak transcription	Left Ventricle	heart
16	chr8:100598600-100623400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr8:100598800-100625000	Weak transcription	Adipose Nuclei	Adipose
18	chr8:100599000-100609400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr8:100599000-100610200	Weak transcription	Psoas Muscle	Psoas
20	chr8:100599000-100611200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:100599000-100611600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:100599000-100614800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:100599400-100609400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:100599400-100609800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:100599400-100618200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:100599400-100630800	Weak transcription	Primary T cells from cord blood	blood
27	chr8:100599400-100632400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:100602600-100631200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr8:100604400-100610000	Strong transcription	Primary B cells from cord blood	blood
30	chr8:100605000-100618000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:100606200-100611400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:100607200-100610800	Weak transcription	Liver	Liver
33	chr8:100608600-100609400	Weak transcription	GM12878-XiMat	blood
34	chr8:100609200-100609800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:100609200-100612800	Weak transcription	Ovary	ovary

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