Variant report

Variant	rs2303792
Chromosome Location	chr16:70531366-70531367
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 29 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10852465	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs11075767	0.87[ASW][hapmap];0.84[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.84[MEX][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11075768	0.88[ASN][1000 genomes]
rs11075769	0.80[ASN][1000 genomes]
rs11075770	0.89[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.84[MEX][hapmap];0.89[ASN][1000 genomes]
rs11641683	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11643344	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11643373	0.89[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.91[JPT][hapmap]
rs11645437	0.84[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11645585	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11648402	0.84[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11649624	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11865527	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11866400	0.89[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12447090	0.84[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap]
rs12597401	0.87[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.84[MEX][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12909	0.85[ASN][1000 genomes]
rs12925729	0.87[ASW][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12933634	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2168606	0.88[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs2288491	0.87[ASW][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.84[MEX][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2303793	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs33910368	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs34567847	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs34890962	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3762171	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.84[MEX][hapmap];0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3859068	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4277334	0.89[ASN][1000 genomes]
rs4284632	0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4324119	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4436771	0.87[ASW][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.84[MEX][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4513092	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs58963621	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6499320	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6499321	0.89[ASN][1000 genomes]
rs71401814	0.88[ASN][1000 genomes]
rs7189474	0.95[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs7192268	0.95[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs7194521	0.99[ASN][1000 genomes]
rs7195030	0.81[ASN][1000 genomes]
rs7197262	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7199859	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7200430	1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7201750	0.89[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7204583	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs722579	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.84[MEX][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs744672	0.85[ASN][1000 genomes]
rs7919	0.89[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs8045651	1.00[ASN][1000 genomes]
rs8046881	0.88[ASN][1000 genomes]
rs8049641	0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.89[ASN][1000 genomes]
rs8049786	0.91[ASN][1000 genomes]
rs8051506	0.87[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.84[MEX][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs8052125	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8053436	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8057610	0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs8058224	0.95[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap]
rs8062178	0.94[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs8062183	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs8063990	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8064013	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs936994	0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs9635522	0.87[ASN][1000 genomes]
rs9929904	1.00[ASN][1000 genomes]
rs9934440	0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs9936225	0.95[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.99[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	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:29)

SNP	Gene	Cis/trans	Tissue	Source
rs2303792	EXOSC6	cis	Adipose Subcutaneous	GTEx
rs2303792	PDPR	cis	cerebellum	SCAN
rs2303792	ZFP90	cis	cerebellum	SCAN
rs2303792	RP11-296I10.6	cis	Artery Tibial	GTEx
rs2303792	RP11-296I10.6	cis	lung	GTEx
rs2303792	PDPR	cis	parietal	SCAN
rs2303792	EXOSC6	Cis_1M	lymphoblastoid	RTeQTL
rs2303792	PDXDC2P	cis	Muscle Skeletal	GTEx
rs2303792	RP11-296I10.6	cis	Thyroid	GTEx
rs2303792	EXOSC6	cis	parietal	SCAN
rs2303792	EXOSC6	cis	Muscle Skeletal	GTEx
rs2303792	RP11-296I10.6	cis	Skin Sun Exposed Lower leg	GTEx
rs2303792	EXOSC6	cis	Heart Left Ventricle	GTEx
rs2303792	SF3B3	cis	cerebellum	SCAN
rs2303792	WWP2	cis	parietal	SCAN
rs2303792	RP11-296I10.6	cis	Heart Left Ventricle	GTEx
rs2303792	WWP2	cis	cerebellum	SCAN
rs2303792	RP11-296I10.6	cis	Nerve Tibial	GTEx
rs2303792	EXOSC6	cis	multi-tissue	Pritchard
rs2303792	IL34	cis	parietal	SCAN
rs2303792	EXOSC6	cis	cerebellum	SCAN
rs2303792	RP11-296I10.6	cis	Muscle Skeletal	GTEx
rs2303792	LOC440348	cis	multi-tissue	Pritchard
rs2303792	RP11-296I10.6	cis	Esophagus Muscularis	GTEx
rs2303792	IL34	cis	Nerve Tibial	GTEx
rs2303792	CLEC18A	cis	Whole Blood	GTEx
rs2303792	SF3B3	cis	parietal	SCAN
rs2303792	RP11-296I10.6	cis	Adipose Subcutaneous	GTEx
rs2303792	LOC440348	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70489400-70556400	Weak transcription	Stomach Mucosa	stomach
2	chr16:70501200-70535800	Strong transcription	Fetal Intestine Small	intestine
3	chr16:70501400-70535200	Strong transcription	Fetal Intestine Large	intestine
4	chr16:70501400-70536400	Strong transcription	Fetal Stomach	stomach
5	chr16:70504200-70532000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr16:70504400-70535200	Strong transcription	Liver	Liver
7	chr16:70506400-70535200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr16:70506600-70535400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr16:70511800-70535600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr16:70512000-70535400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr16:70512800-70533600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:70512800-70556400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr16:70513800-70532200	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr16:70517600-70538800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr16:70518000-70545800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:70519800-70532200	Strong transcription	Primary T cells from cord blood	blood
17	chr16:70519800-70533400	Strong transcription	Duodenum Mucosa	Duodenum
18	chr16:70522200-70532000	Strong transcription	Fetal Lung	lung
19	chr16:70522800-70531800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr16:70522800-70532200	Strong transcription	Stomach Smooth Muscle	stomach
21	chr16:70523200-70535200	Strong transcription	Brain Germinal Matrix	brain
22	chr16:70523200-70542400	Weak transcription	Hela-S3	cervix
23	chr16:70523400-70535200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr16:70523400-70535200	Strong transcription	Dnd41	blood
25	chr16:70524000-70532200	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr16:70524400-70542400	Weak transcription	Fetal Brain Male	brain
27	chr16:70524600-70532000	Strong transcription	Lung	lung
28	chr16:70524600-70535200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr16:70525200-70535200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr16:70525400-70535800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr16:70525600-70532000	Strong transcription	Placenta Amnion	Placenta Amnion
32	chr16:70525600-70533400	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr16:70525600-70534000	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr16:70525600-70535400	Strong transcription	Fetal Muscle Leg	muscle
35	chr16:70525600-70535800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr16:70525600-70538200	Strong transcription	Fetal Thymus	thymus
37	chr16:70525800-70533200	Strong transcription	Osteobl	bone
38	chr16:70525800-70533400	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr16:70525800-70533800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr16:70525800-70535200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr16:70525800-70535200	Strong transcription	Adipose Nuclei	Adipose
42	chr16:70525800-70535600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr16:70525800-70535600	Strong transcription	Placenta	Placenta
44	chr16:70525800-70535800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:70525800-70537000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr16:70526000-70539000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr16:70526600-70532000	Strong transcription	Brain Hippocampus Middle	brain
48	chr16:70526600-70532000	Strong transcription	Esophagus	oesophagus
49	chr16:70526600-70532000	Strong transcription	Spleen	Spleen
50	chr16:70526600-70533400	Strong transcription	Ovary	ovary

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