Variant report

Variant	rs4403445
Chromosome Location	chr8:61432007-61432008
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr8:61431989-61432083	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr8:61428909-61432038	HepG2	liver:	n/a	n/a
3	WRNIP1	chr8:61431587-61432015	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000251396	TF binding region

Extended variants
information (count: 107 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10096140	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10098769	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10102740	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10435601	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808709	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10808710	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10957142	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10957144	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10957145	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957147	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10957151	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1120591	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11774081	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777673	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11777706	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11995549	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11996592	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12678742	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12680781	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12681129	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1319104	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1319105	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13257359	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13262390	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13265543	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13276831	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13439252	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1842389	0.89[EUR][1000 genomes]
rs1893272	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1941463	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2013112	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2056415	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2096890	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2155829	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2186986	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2272620	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2272621	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2326560	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2326561	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2326562	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2326568	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2326569	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2326570	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2326571	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2625441	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2625446	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28649594	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2875967	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2875968	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2875973	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2875974	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930040	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2946154	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2981277	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735825	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3735826	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3929643	0.93[EUR][1000 genomes]
rs41420549	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4452821	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55825491	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56294255	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs586377	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs595255	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs600811	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs608401	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs615031	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs617834	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs625850	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs629268	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs631408	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6471875	0.80[EUR][1000 genomes]
rs6471885	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471886	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6471888	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs652422	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs659118	0.92[EUR][1000 genomes]
rs660865	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs669599	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67420552	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs684066	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs687978	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6987084	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6992869	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6993019	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6995515	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7000166	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7001696	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7007434	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012181	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7013249	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7413	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7815543	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7822169	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824045	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7825612	0.89[EUR][1000 genomes]
rs7827453	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7829359	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7834395	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7839474	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7839516	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7842586	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9298039	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs948422	0.94[EUR][1000 genomes]
rs9643523	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	nsv971314	chr8:61359401-61436209	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4403445	RAB2A	cis	Thyroid	GTEx
rs4403445	RP11-163N6.2	cis	Thyroid	GTEx
rs4403445	RAB2A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61428600-61432400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:61428600-61434400	Active TSS	GM12878-XiMat	blood
3	chr8:61428800-61432200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:61428800-61432200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:61428800-61432400	Active TSS	HSMMtube	muscle
6	chr8:61428800-61432600	Active TSS	Right Ventricle	heart
7	chr8:61428800-61433200	Active TSS	Right Atrium	heart
8	chr8:61429000-61432200	Active TSS	Fetal Intestine Large	intestine
9	chr8:61430200-61432400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr8:61430400-61432200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:61430400-61432200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:61430400-61432600	Flanking Active TSS	Fetal Brain Female	brain
13	chr8:61430400-61432800	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr8:61430600-61432200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr8:61430600-61432400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:61430600-61432400	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr8:61430600-61433400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:61430800-61432200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr8:61430800-61432200	Flanking Active TSS	Fetal Lung	lung
20	chr8:61430800-61432200	Flanking Active TSS	NHEK	skin
21	chr8:61430800-61432600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:61430800-61432600	Flanking Active TSS	Dnd41	blood
23	chr8:61430800-61433000	Flanking Active TSS	HUVEC	blood vessel
24	chr8:61430800-61433200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr8:61431000-61432200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr8:61431000-61432200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr8:61431000-61432600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr8:61431000-61432800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:61431000-61433400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:61431000-61433800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:61431000-61433800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:61431000-61435400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr8:61431000-61436600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr8:61431000-61438200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:61431200-61432200	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr8:61431200-61432200	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr8:61431200-61432200	Flanking Active TSS	Fetal Intestine Small	intestine
38	chr8:61431200-61432200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr8:61431200-61432200	Flanking Active TSS	Hela-S3	cervix
40	chr8:61431200-61432200	Flanking Active TSS	HepG2	liver
41	chr8:61431200-61432200	Flanking Active TSS	HMEC	breast
42	chr8:61431200-61432400	Flanking Active TSS	K562	blood
43	chr8:61431200-61432600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr8:61431200-61432600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr8:61431200-61433000	Flanking Active TSS	Fetal Heart	heart
46	chr8:61431200-61433200	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr8:61431200-61433200	Enhancers	Stomach Mucosa	stomach
48	chr8:61431200-61433400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:61431200-61433400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr8:61431200-61434800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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