Variant report

Variant	rs2326568
Chromosome Location	chr8:61475274-61475275
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10096140	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10098769	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];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102740	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10435601	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10808709	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808710	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10957142	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10957144	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10957145	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10957147	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10957150	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs10957151	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1120591	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11774081	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11777673	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11777706	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11995549	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996592	0.96[CEU][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12678742	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12680781	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12681129	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1319104	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1319105	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13257359	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13262390	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13265543	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13276831	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13439252	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17814894	0.96[CEU][hapmap];0.86[JPT][hapmap]
rs1842389	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1893272	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1941463	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2013112	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2056415	0.93[CEU][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2096890	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2155829	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2186986	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2272620	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2272621	0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2326560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2326561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2326562	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2326569	0.93[CEU][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2326570	0.93[CEU][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2326571	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2625441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2625446	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28649594	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2875967	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2875968	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2875973	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2875974	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2930040	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2946154	0.93[CEU][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2981277	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3735825	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];1.00[ASN][1000 genomes]
rs3735826	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3929643	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41420549	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4403445	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4452821	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55825491	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56294255	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs586377	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs595255	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs600811	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs601778	0.81[JPT][hapmap]
rs603035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs608401	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs615031	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs617834	0.93[CEU][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs625850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs625979	0.80[JPT][hapmap]
rs629268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs631408	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6471885	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6471886	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6471888	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs652422	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs659118	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs660865	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs669599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs671576	0.81[JPT][hapmap]
rs67420552	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs684066	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs687978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6984378	0.96[CEU][hapmap]
rs6987084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6992869	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6993019	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6995041	1.00[CEU][hapmap]
rs6995515	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7000166	0.93[CEU][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7001696	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7007434	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7012181	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7013249	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7815543	0.93[CEU][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7822169	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7824045	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7825612	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7827453	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7829359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834395	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7839474	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7839516	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7842586	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9298039	0.96[CEU][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs948422	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9643523	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv3384611	chr8:61461615-61480346	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2326568	RAB2	cis	normal skin	skin_eQTL
rs2326568	RAB2	cis	lesional skin	skin_eQTL
rs2326568	RAB2	cis	uninvolved skin	skin_eQTL
rs2326568	RAB2A	cis	multi-tissue	Pritchard

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61434800-61480600	Weak transcription	HMEC	breast
2	chr8:61438000-61488600	Weak transcription	Fetal Brain Female	brain
3	chr8:61439400-61494600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:61440800-61480000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:61448600-61505400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:61451400-61482200	Weak transcription	Right Ventricle	heart
7	chr8:61451800-61475800	Weak transcription	Fetal Heart	heart
8	chr8:61455800-61475400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr8:61457800-61475800	Weak transcription	K562	blood
10	chr8:61458200-61480600	Weak transcription	Gastric	stomach
11	chr8:61458200-61497000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:61459400-61495800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:61463600-61482200	Weak transcription	Esophagus	oesophagus
14	chr8:61466400-61516800	Weak transcription	Stomach Mucosa	stomach
15	chr8:61467000-61476000	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:61467200-61515400	Weak transcription	Fetal Brain Male	brain
17	chr8:61468000-61482200	Weak transcription	Aorta	Aorta
18	chr8:61468800-61488600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:61469000-61495000	Weak transcription	Brain Germinal Matrix	brain
20	chr8:61469400-61488600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:61470000-61477200	Strong transcription	Primary T cells from cord blood	blood
22	chr8:61470200-61478000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:61470400-61476800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:61470800-61476400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:61470800-61477000	Strong transcription	Primary hematopoietic stem cells	blood
26	chr8:61470800-61478000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr8:61471400-61476200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr8:61471400-61477800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:61471400-61477800	Strong transcription	Dnd41	blood
30	chr8:61471600-61475400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr8:61471600-61477800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:61471800-61476600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:61471800-61477800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:61472000-61476400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr8:61472000-61478000	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr8:61472000-61488800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:61472400-61475600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr8:61472400-61476600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:61472400-61477800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:61472400-61478000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:61472400-61478000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:61472400-61479200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr8:61472600-61476000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr8:61472600-61477600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:61472600-61477800	Strong transcription	Primary B cells from cord blood	blood
46	chr8:61472600-61478000	Strong transcription	Placenta	Placenta
47	chr8:61473000-61476800	Strong transcription	Adipose Nuclei	Adipose
48	chr8:61473000-61480600	Weak transcription	Pancreas	Pancrea
49	chr8:61473200-61489200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:61473400-61475800	Weak transcription	Ovary	ovary

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