Variant report

Variant	rs10092109
Chromosome Location	chr8:66539918-66539919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66536010..66541591-chr8:66543618..66546783,7	K562	blood:
2	chr8:66538337..66541485-chr8:66544938..66547674,5	MCF-7	breast:
3	chr8:66538964..66541698-chr8:66621567..66623438,2	K562	blood:

Variant related genes	Relation type
ENSG00000104442	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10087361	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10089029	1.00[ASN][1000 genomes]
rs10089708	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10097461	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10100131	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10110985	0.83[ASN][1000 genomes]
rs1053085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1053087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1053088	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10957361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776709	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11776712	0.91[ASN][1000 genomes]
rs11985628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990855	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12335006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12335276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12543053	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12544767	0.95[ASN][1000 genomes]
rs12677419	0.98[ASN][1000 genomes]
rs12678467	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs13252358	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13266834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13267942	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13268343	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs13281155	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs14213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1473601	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1533285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932245	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16932250	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16932314	0.94[ASN][1000 genomes]
rs1877638	0.95[ASN][1000 genomes]
rs2048650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2102648	0.97[ASN][1000 genomes]
rs2175809	0.98[ASN][1000 genomes]
rs2175810	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2357476	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28415299	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28576524	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs28613797	1.00[ASN][1000 genomes]
rs3268	0.99[ASN][1000 genomes]
rs34226237	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34494846	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34533611	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34851482	0.98[ASN][1000 genomes]
rs35038843	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35790435	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35941313	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3750184	0.99[ASN][1000 genomes]
rs3765205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3812412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4275254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4320587	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4384016	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4384017	0.84[ASN][1000 genomes]
rs4388482	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4397444	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4637885	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4637886	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4737222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4737747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4737748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4737749	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5018458	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57419568	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60023200	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60058315	0.99[ASN][1000 genomes]
rs6472210	0.91[CHB][hapmap]
rs6472213	0.99[ASN][1000 genomes]
rs6472214	0.88[ASN][1000 genomes]
rs6472215	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6472216	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6472217	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6472218	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66467166	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66486920	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67046768	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67131486	0.95[ASN][1000 genomes]
rs67685675	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6985897	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6985932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986445	0.82[AMR][1000 genomes]
rs6986691	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986866	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6991731	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6993876	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6994213	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6995242	0.99[ASN][1000 genomes]
rs6997959	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006648	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7007505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011464	0.91[CHB][hapmap]
rs7012578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7012856	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016472	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs71930161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236948	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73236986	1.00[ASN][1000 genomes]
rs73239011	1.00[ASN][1000 genomes]
rs73239085	0.99[ASN][1000 genomes]
rs7459737	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7464123	0.92[ASN][1000 genomes]
rs7464223	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7812390	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7812446	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7814841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7815488	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7817112	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7823840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7832407	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7836746	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7841652	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7842162	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7846527	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs953593	0.90[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs10092109	CTD-3025N20.3	cis	Esophagus Mucosa	GTEx
rs10092109	ARMC1	cis	multi-tissue	Pritchard
rs10092109	CTD-3025N20.3	cis	Artery Tibial	GTEx
rs10092109	CTD-3025N20.3	cis	Esophagus Muscularis	GTEx
rs10092109	CTD-3025N20.3	cis	lung	GTEx
rs10092109	CTD-3025N20.3	cis	Muscle Skeletal	GTEx
rs10092109	CTD-3025N20.3	cis	Thyroid	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66504000-66545200	Weak transcription	Fetal Brain Male	brain
2	chr8:66506800-66545200	Weak transcription	Stomach Mucosa	stomach
3	chr8:66508000-66545200	Weak transcription	Fetal Heart	heart
4	chr8:66518000-66545600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:66519600-66545200	Weak transcription	Right Atrium	heart
6	chr8:66520000-66545000	Weak transcription	NHEK	skin
7	chr8:66522600-66545200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:66525600-66545200	Weak transcription	Fetal Kidney	kidney
9	chr8:66529200-66541800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:66529600-66540200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:66529600-66540400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:66529600-66541800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr8:66529800-66540000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:66529800-66540000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:66529800-66540000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:66529800-66540000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr8:66529800-66540200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:66529800-66540400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr8:66529800-66540600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr8:66529800-66540600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr8:66529800-66540600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:66529800-66540600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr8:66529800-66541800	Strong transcription	Fetal Thymus	thymus
24	chr8:66529800-66542000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:66530000-66540600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:66530000-66540600	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:66530000-66541200	Strong transcription	Fetal Muscle Trunk	muscle
28	chr8:66530200-66545000	Weak transcription	Hela-S3	cervix
29	chr8:66530600-66540600	Strong transcription	Adipose Nuclei	Adipose
30	chr8:66530600-66541400	Strong transcription	Fetal Intestine Small	intestine
31	chr8:66530800-66540200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr8:66530800-66540200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr8:66532000-66545600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:66532400-66545600	Weak transcription	Aorta	Aorta
35	chr8:66533600-66542600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:66533600-66545200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr8:66534000-66545200	Weak transcription	Brain Angular Gyrus	brain
38	chr8:66534200-66545200	Weak transcription	Colonic Mucosa	Colon
39	chr8:66534400-66545200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:66534600-66545200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr8:66535000-66544800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:66535000-66545200	Weak transcription	Brain Hippocampus Middle	brain
43	chr8:66535200-66545200	Weak transcription	Esophagus	oesophagus
44	chr8:66535200-66545600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:66536200-66540200	Strong transcription	Liver	Liver
46	chr8:66536400-66540400	Strong transcription	Dnd41	blood
47	chr8:66536400-66543200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:66537000-66540000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:66537200-66540200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:66537200-66540200	Strong transcription	Primary T cells from cord blood	blood

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