Variant report

Variant	rs8046881
Chromosome Location	chr16:70562511-70562512
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70562406-70562587	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr16:70562482-70563158	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70556775..70558967-chr16:70559981..70563082,4	K562	blood:
2	chr16:70544700..70547086-chr16:70561359..70563295,2	MCF-7	breast:
3	chr16:70558865..70562951-chr16:70591784..70595478,3	MCF-7	breast:
4	chr16:70320190..70323478-chr16:70561149..70564718,3	K562	blood:
5	chr16:70413215..70416772-chr16:70556199..70563150,13	MCF-7	breast:
6	chr16:70560516..70563489-chr16:70597585..70599581,2	MCF-7	breast:
7	chr16:70559458..70561590-chr16:70562032..70564631,5	K562	blood:
8	chr16:70379157..70381349-chr16:70561785..70563465,2	MCF-7	breast:

No data

Variant related genes	Relation type
SNORD111B	TF binding region
ENSG00000168872	Chromatin interaction
ENSG00000260111	Chromatin interaction
ENSG00000261777	Chromatin interaction
ENSG00000090861	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000103051	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10852465	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11075767	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11075768	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11075769	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11075770	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11640374	0.88[EUR][1000 genomes]
rs11641683	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11643344	1.00[ASN][1000 genomes]
rs11643373	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11643823	0.88[EUR][1000 genomes]
rs11645092	0.88[EUR][1000 genomes]
rs11645214	0.93[EUR][1000 genomes]
rs11645287	0.88[EUR][1000 genomes]
rs11645437	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11645585	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11648402	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11649624	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11865527	1.00[ASN][1000 genomes]
rs11866400	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12597401	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12909	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12925729	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12931402	0.86[EUR][1000 genomes]
rs12933634	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2168606	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2288491	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2303791	0.84[AMR][1000 genomes]
rs2303792	0.88[ASN][1000 genomes]
rs2303793	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs33910368	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34567847	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34890962	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3762171	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4277334	0.83[EUR][1000 genomes]
rs4284632	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4324119	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4432264	0.88[AMR][1000 genomes]
rs4436771	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4513092	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4592653	0.93[EUR][1000 genomes]
rs4985533	0.88[AMR][1000 genomes]
rs4985534	0.88[AMR][1000 genomes]
rs58963621	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6499317	0.83[AMR][1000 genomes]
rs6499320	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6499321	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71401814	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7190039	0.86[AMR][1000 genomes]
rs7194521	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7195030	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7197262	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7197840	0.93[EUR][1000 genomes]
rs7198317	0.91[EUR][1000 genomes]
rs7199859	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7200430	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7201750	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7204583	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs722579	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8045651	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8049641	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8049786	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8051506	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8052031	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8052125	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8053436	0.99[ASN][1000 genomes]
rs8057610	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8062178	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8063990	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8064013	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9635522	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9929904	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9936225	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs8046881	CLEC18A	cis	Artery Aorta	GTEx
rs8046881	LOC440348	Cis_chr	lymphoblastoid	RTeQTL
rs8046881	RP11-419C5.2	cis	Skin Sun Exposed Lower leg	GTEx
rs8046881	CLEC18A	cis	Whole Blood	GTEx
rs8046881	RP11-296I10.6	cis	Thyroid	GTEx
rs8046881	PDXDC2P	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70558800-70565200	Weak transcription	Aorta	Aorta
2	chr16:70559400-70562800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:70559400-70564200	Weak transcription	Esophagus	oesophagus
4	chr16:70559400-70564200	Weak transcription	Right Ventricle	heart
5	chr16:70559400-70564600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:70559400-70606200	Strong transcription	Fetal Stomach	stomach
7	chr16:70559600-70562600	Weak transcription	HSMMtube	muscle
8	chr16:70559600-70562800	Weak transcription	Colonic Mucosa	Colon
9	chr16:70559600-70563200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr16:70559600-70563800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr16:70559600-70564200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr16:70559600-70564600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr16:70559600-70571400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr16:70559800-70562600	Weak transcription	Lung	lung
15	chr16:70559800-70564200	Genic enhancers	Primary T cells fromperipheralblood	blood
16	chr16:70560200-70562600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr16:70560200-70563600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
18	chr16:70560400-70563200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr16:70560400-70563200	Genic enhancers	Primary T cells from cord blood	blood
20	chr16:70560400-70564000	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr16:70560400-70564600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr16:70560400-70565200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr16:70560400-70605200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr16:70560400-70605600	Strong transcription	Placenta	Placenta
25	chr16:70560400-70607800	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr16:70560600-70562800	Weak transcription	Right Atrium	heart
27	chr16:70560600-70568800	Strong transcription	Brain Substantia Nigra	brain
28	chr16:70560600-70598800	Strong transcription	Stomach Smooth Muscle	stomach
29	chr16:70560600-70609600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr16:70560800-70608800	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr16:70561000-70562800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr16:70561000-70563200	Strong transcription	Primary hematopoietic stem cells	blood
33	chr16:70561000-70563200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr16:70561000-70563600	Genic enhancers	HepG2	liver
35	chr16:70561000-70564400	Weak transcription	Small Intestine	intestine
36	chr16:70561000-70569400	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr16:70561000-70569600	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr16:70561000-70605200	Strong transcription	Fetal Muscle Leg	muscle
39	chr16:70561000-70608800	Strong transcription	Fetal Thymus	thymus
40	chr16:70561000-70609000	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr16:70561000-70609400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr16:70561000-70610000	Strong transcription	Thymus	Thymus
43	chr16:70561200-70562600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr16:70561200-70562800	Strong transcription	Liver	Liver
45	chr16:70561200-70562800	Weak transcription	Brain Angular Gyrus	brain
46	chr16:70561200-70562800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr16:70561200-70562800	Weak transcription	Brain Hippocampus Middle	brain
48	chr16:70561200-70562800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr16:70561200-70562800	Weak transcription	Stomach Mucosa	stomach
50	chr16:70561200-70568000	Strong transcription	Fetal Kidney	kidney

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