Variant report

Variant	rs2272621
Chromosome Location	chr8:61452302-61452303
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61440745..61443424-chr8:61450205..61452347,2	MCF-7	breast:
2	chr8:61446080..61449984-chr8:61450187..61453162,6	K562	blood:
3	chr8:61445869..61450091-chr8:61450711..61454496,4	K562	blood:

Extended variants
information (count: 117 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10096140	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10098769	0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10102740	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10435601	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10808709	0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10808710	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10957142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957144	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957145	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10957147	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10957150	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10957151	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1120591	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11774081	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11776939	0.84[EUR][1000 genomes]
rs11777673	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11777706	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11995549	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11996592	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12678742	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12680781	0.89[EUR][1000 genomes]
rs12681129	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1319104	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1319105	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13257359	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13262390	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13265543	0.89[EUR][1000 genomes]
rs13276831	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13439252	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1552071	0.83[EUR][1000 genomes]
rs17814894	0.84[JPT][hapmap];0.83[EUR][1000 genomes]
rs1842389	0.83[EUR][1000 genomes]
rs1893272	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1941463	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2013112	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2056415	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2096890	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2155829	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2186986	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2272620	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]
rs2326560	0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2326561	0.83[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2326562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2326568	0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2326569	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2326570	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2326571	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2625441	0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2625446	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28649594	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2875967	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2875968	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2875973	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2875974	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2930040	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2946154	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2981277	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3735825	0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3735826	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]
rs3929643	0.90[EUR][1000 genomes]
rs41420549	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4403445	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4452821	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55825491	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56294255	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs586377	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs595255	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs600811	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs601778	0.83[JPT][hapmap]
rs603035	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs608401	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs609264	0.82[JPT][hapmap]
rs615031	0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs617834	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs625850	0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs625979	0.82[JPT][hapmap]
rs626913	0.82[JPT][hapmap]
rs629268	0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs631408	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6471885	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6471886	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6471888	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652422	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs659118	0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs660865	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs669599	0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs671576	0.83[JPT][hapmap]
rs67420552	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs684066	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs687978	0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6984378	0.82[EUR][1000 genomes]
rs6987084	0.83[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6992869	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6993019	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6995515	0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7000166	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7001696	0.89[EUR][1000 genomes]
rs7007434	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7012181	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013249	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7413	0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7815543	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822169	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7824045	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7825612	0.83[EUR][1000 genomes]
rs7827453	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7829359	0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7830710	0.83[EUR][1000 genomes]
rs7834395	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7839474	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839516	0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs7842586	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9298039	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs948422	0.89[EUR][1000 genomes]
rs9643523	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2272621	RAB2A	cis	Thyroid	GTEx
rs2272621	RP11-163N6.2	cis	Thyroid	GTEx
rs2272621	RAB2A	cis	multi-tissue	Pritchard
rs2272621	RAB2A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61433800-61472600	Weak transcription	HUVEC	blood vessel
2	chr8:61434600-61467600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr8:61434600-61472600	Weak transcription	Placenta	Placenta
4	chr8:61434800-61458000	Weak transcription	Dnd41	blood
5	chr8:61434800-61480600	Weak transcription	HMEC	breast
6	chr8:61435400-61470800	Weak transcription	NHEK	skin
7	chr8:61435400-61471800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr8:61437200-61462600	Weak transcription	NH-A	brain
9	chr8:61437400-61463200	Weak transcription	HSMM	muscle
10	chr8:61438000-61488600	Weak transcription	Fetal Brain Female	brain
11	chr8:61438400-61469600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:61439000-61453000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:61439400-61455800	Weak transcription	Fetal Thymus	thymus
14	chr8:61439400-61494600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:61440800-61480000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:61443800-61472800	Weak transcription	Thymus	Thymus
17	chr8:61444000-61462800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:61444800-61453400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:61446000-61462400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:61446800-61455400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:61446800-61459200	Weak transcription	Fetal Intestine Large	intestine
22	chr8:61447400-61453800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:61447400-61463600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:61447400-61466800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:61447600-61462800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr8:61447600-61465400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:61447600-61469200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:61447600-61472600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:61447800-61466600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:61447800-61466800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:61448000-61457600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:61448000-61457600	Weak transcription	K562	blood
33	chr8:61448200-61455600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:61448400-61453400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:61448400-61453600	Weak transcription	NHLF	lung
36	chr8:61448600-61452400	Weak transcription	Primary B cells from cord blood	blood
37	chr8:61448600-61453600	Weak transcription	Brain Angular Gyrus	brain
38	chr8:61448600-61465200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr8:61448600-61465800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:61448600-61505400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:61448800-61462200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:61449000-61473800	Weak transcription	HSMMtube	muscle
43	chr8:61449400-61458200	Weak transcription	NHDF-Ad	bronchial
44	chr8:61449400-61472800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr8:61449600-61462000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr8:61449600-61466200	Weak transcription	Fetal Lung	lung
47	chr8:61449800-61457600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:61449800-61462400	Weak transcription	Osteobl	bone
49	chr8:61450000-61453000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:61450400-61452400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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