Variant report

Variant	rs12528781
Chromosome Location	chr6:109929308-109929309
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	chr6:109927783..109929912-chr6:109931522..109933858,2	K562	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10457192	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10457194	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10457195	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10457203	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10499053	0.95[ASN][1000 genomes]
rs10782162	0.85[ASN][1000 genomes]
rs10782163	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10872034	0.85[ASN][1000 genomes]
rs11153183	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11153188	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11153213	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11153215	0.85[EUR][1000 genomes]
rs11752791	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11754340	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11754455	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11755641	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11758651	0.86[AMR][1000 genomes]
rs12191353	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12192268	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12192776	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12193719	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12194061	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12194157	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12197180	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12197838	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12197950	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12198938	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12199154	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12201356	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12201444	0.85[EUR][1000 genomes]
rs12204548	0.86[EUR][1000 genomes]
rs12205140	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12205485	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12208018	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12208933	0.94[ASN][1000 genomes]
rs12210706	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12212476	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12214639	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12215077	0.85[EUR][1000 genomes]
rs13191066	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13199109	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13199135	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13201430	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13201947	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13201951	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13203587	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13204102	0.92[ASN][1000 genomes]
rs13204500	0.92[ASN][1000 genomes]
rs1321328	0.87[ASN][1000 genomes]
rs13220915	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1322124	0.85[EUR][1000 genomes]
rs1406899	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1476388	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1960325	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1980591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1998811	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2024849	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2024850	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2024852	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2024853	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2025148	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2148089	0.86[ASN][1000 genomes]
rs2208209	0.94[ASN][1000 genomes]
rs2273752	0.85[EUR][1000 genomes]
rs2277114	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2357124	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36131450	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3799845	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3799849	0.86[EUR][1000 genomes]
rs3899233	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4141930	0.85[EUR][1000 genomes]
rs4490694	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4945833	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4947016	0.85[EUR][1000 genomes]
rs6568592	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68042406	0.85[ASN][1000 genomes]
rs6906216	0.87[ASN][1000 genomes]
rs6911700	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6914498	0.94[ASN][1000 genomes]
rs6916579	0.86[ASN][1000 genomes]
rs6920292	0.86[ASN][1000 genomes]
rs6926096	0.87[ASN][1000 genomes]
rs71541003	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs729888	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7341297	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs749517	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7755941	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7767525	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7773950	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs971434	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026012	chr6:109851638-109999379	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv604484	chr6:109851937-109997529	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1019389	chr6:109868058-109987502	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv538416	chr6:109868058-109987502	Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv917318	chr6:109885195-109982375	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv949475	chr6:109907936-110160501	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs12528781	RP11-425D10.10	cis	Skin Sun Exposed Lower leg	GTEx
rs12528781	ZBTB24	Cis_1M	lymphoblastoid	RTeQTL
rs12528781	C6orf199	Cis_1M	lymphoblastoid	RTeQTL
rs12528781	RP11-425D10.10	cis	Esophagus Mucosa	GTEx
rs12528781	SMPD2	cis	Whole Blood	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109923600-109932000	Weak transcription	Spleen	Spleen
2	chr6:109923600-109952600	Weak transcription	Right Ventricle	heart
3	chr6:109925200-109932000	Weak transcription	Psoas Muscle	Psoas
4	chr6:109925200-109932600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:109925400-109932600	Weak transcription	Brain Angular Gyrus	brain
6	chr6:109925400-109932600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:109925600-109932600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:109925600-109933000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:109925800-109930600	Weak transcription	Primary B cells from cord blood	blood
10	chr6:109926000-109932600	Weak transcription	Brain Anterior Caudate	brain
11	chr6:109926000-109932600	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:109926200-109929400	Enhancers	Primary T cells from cord blood	blood
13	chr6:109926200-109932600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:109926400-109932200	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:109926400-109932400	Weak transcription	Adipose Nuclei	Adipose
16	chr6:109926400-109934200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr6:109926600-109932600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr6:109926600-109932600	Weak transcription	Liver	Liver
19	chr6:109926600-109934400	Weak transcription	Brain Substantia Nigra	brain
20	chr6:109926800-109935400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:109927000-109932600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:109927200-109932200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr6:109927600-109935200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr6:109928000-109931000	Weak transcription	Thymus	Thymus
25	chr6:109928000-109931800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:109928000-109932000	Weak transcription	Aorta	Aorta
27	chr6:109928000-109932000	Weak transcription	Gastric	stomach
28	chr6:109928000-109932000	Weak transcription	Lung	lung
29	chr6:109928000-109932600	Weak transcription	Left Ventricle	heart
30	chr6:109928000-109966400	Weak transcription	Pancreas	Pancrea
31	chr6:109928200-109932000	Weak transcription	Fetal Thymus	thymus
32	chr6:109928200-109932000	Weak transcription	Dnd41	blood

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