Variant report

Variant	rs8052031
Chromosome Location	chr16:70560121-70560122
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70559740-70560192	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr16:70560016-70560419	K562	blood:	n/a	n/a
3	POLR2A	chr16:70559929-70560490	HepG2	liver:	n/a	n/a
4	POLR2A	chr16:70559914-70560549	SK-N-MC	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:70560099-70560149	HIPEpiC	eye:	n/a
2	chr16:70560099-70560149	Caco-2	colon:	n/a
3	chr16:70560099-70560149	Hela-S3	cervix:	n/a
4	chr16:70560099-70560149	HUVEC	blood vessel:	n/a
5	chr16:70560099-70560149	HAEpiC	amniotic membrane:	n/a
6	chr16:70560099-70560149	NHBE	bronchial:	n/a
7	chr16:70560099-70560149	BJ	skin:	n/a
8	chr16:70560099-70560149	AG04450	lung:	fetal
9	chr16:70560099-70560149	NHDF-neo	bronchial:	n/a
10	chr16:70560099-70560149	GM12878	blood:	n/a
11	chr16:70560099-70560149	GM19239	blood:	n/a
12	chr16:70560099-70560149	NH-A	brain:	n/a
13	chr16:70560099-70560149	HRE	kidney:	n/a
14	chr16:70560099-70560149	HCM	heart:	n/a
15	chr16:70560099-70560149	T-47D	breast:	n/a
16	chr16:70560099-70560149	MCF10A-Er-Src	breast:	n/a
17	chr16:70560099-70560149	PANC-1	pancreas:	n/a
18	chr16:70560099-70560149	ECC-1	luminal epithelium:	n/a
19	chr16:70560099-70560149	HepG2	liver:	n/a
20	chr16:70560099-70560149	SKMC	muscle:	n/a
21	chr16:70560099-70560149	Hepatocyte	liver:	n/a
22	chr16:70560099-70560149	SK-N-SH	brain:	n/a
23	chr16:70560099-70560149	HRPEpiC	eye:	n/a
24	chr16:70560099-70560149	HEEpiC	esophagus:	n/a
25	chr16:70560099-70560149	HEK293	kidney:	embryo
26	chr16:70560099-70560149	AG09319	gingival:	n/a
27	chr16:70560099-70560149	NB4	blood:	n/a
28	chr16:70560099-70560149	CMK	blood:	n/a
29	chr16:70560099-70560149	HL-60	blood:	n/a
30	chr16:70560099-70560149	AoSMC	blood vessel:	n/a
31	chr16:70560099-70560149	SAEC	small airway:	n/a
32	chr16:70560099-70560149	GM12892	blood:	n/a
33	chr16:70560099-70560149	IMR90	lung:	fetal
34	chr16:70560099-70560149	AG10803	skin:	n/a
35	chr16:70560099-70560149	HNPCEpiC	eye:	n/a
36	chr16:70560099-70560149	GM12891	blood:	n/a
37	chr16:70560099-70560149	GM06990	blood:	n/a
38	chr16:70560099-70560149	PrEC	prostate:	n/a
39	chr16:70560099-70560149	NT2-D1	testis:	n/a
40	chr16:70560099-70560149	HCF	heart:	n/a
41	chr16:70560099-70560149	ProgFib	skin:	n/a
42	chr16:70560099-70560149	LNCaP	prostate:	n/a
43	chr16:70560099-70560149	PFSK-1	brain:	n/a
44	chr16:70560099-70560149	K562	blood:	n/a
45	chr16:70560099-70560149	HCPEpiC	choroid plexus:	n/a
46	chr16:70560099-70560149	HPAEpiC	pulmonary alveolar:	n/a
47	chr16:70560099-70560149	AG09309	skin:	n/a
48	chr16:70560099-70560149	HMEC	breast:	n/a
49	chr16:70560099-70560149	U87	brain:	n/a
50	chr16:70560099-70560149	MCF-7	breast:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70471134..70474092-chr16:70555921..70560516,5	K562	blood:
2	chr16:70556775..70558967-chr16:70559981..70563082,4	K562	blood:
3	chr16:70321887..70324896-chr16:70556007..70561529,9	K562	blood:
4	chr16:70555634..70562342-chr16:70718026..70723686,6	MCF-7	breast:
5	chr16:70469000..70470691-chr16:70558563..70560602,2	K562	blood:
6	chr16:70558865..70562951-chr16:70591784..70595478,3	MCF-7	breast:
7	chr16:70559458..70561590-chr16:70562032..70564631,5	K562	blood:
8	chr16:70379447..70384942-chr16:70556059..70561583,7	K562	blood:
9	chr16:70413215..70416772-chr16:70556199..70563150,13	MCF-7	breast:
10	chr16:70413177..70417869-chr16:70554702..70561133,15	MCF-7	breast:
11	chr16:70559871..70561537-chr16:70612058..70614410,2	K562	blood:

No data

Variant related genes	Relation type
SNORD111B	TF binding region
COG4	TF binding region
SF3B3	TF binding region
COG4	CpG island
SF3B3	CpG island
SNORD111B	CpG island
ENSG00000261777	Chromatin interaction
ENSG00000157350	Chromatin interaction
ENSG00000157368	Chromatin interaction
ENSG00000260111	Chromatin interaction
ENSG00000168872	Chromatin interaction
ENSG00000157349	Chromatin interaction
ENSG00000090861	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000132613	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000221514	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs11075767	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11075768	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11075769	0.82[EUR][1000 genomes]
rs11075770	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11640374	0.81[EUR][1000 genomes]
rs11641683	0.83[EUR][1000 genomes]
rs11643344	0.87[ASN][1000 genomes]
rs11643373	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11643823	0.81[EUR][1000 genomes]
rs11645092	0.81[EUR][1000 genomes]
rs11645214	0.85[EUR][1000 genomes]
rs11645287	0.81[EUR][1000 genomes]
rs11645437	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11645585	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11648402	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11649624	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11865527	0.87[ASN][1000 genomes]
rs11866400	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12597401	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12909	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12925729	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12933634	0.81[EUR][1000 genomes]
rs2168606	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2288491	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2303791	0.82[AMR][1000 genomes]
rs2303793	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs33910368	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34567847	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34890962	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3762171	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4284632	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4324119	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4432264	0.86[AMR][1000 genomes]
rs4436771	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4513092	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4592653	0.85[EUR][1000 genomes]
rs4985533	0.86[AMR][1000 genomes]
rs4985534	0.86[AMR][1000 genomes]
rs58963621	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6499317	0.81[AMR][1000 genomes]
rs6499320	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6499321	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71401814	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7190039	0.84[AMR][1000 genomes]
rs7194521	0.85[AMR][1000 genomes]
rs7195030	0.81[EUR][1000 genomes]
rs7197262	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7197840	0.87[EUR][1000 genomes]
rs7198317	0.84[EUR][1000 genomes]
rs7199859	0.80[EUR][1000 genomes]
rs7200430	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7201750	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7204583	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs722579	0.83[EUR][1000 genomes]
rs8045651	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8046881	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8049641	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8049786	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8051506	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8052125	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8053436	0.88[ASN][1000 genomes]
rs8057610	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8062178	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8063990	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8064013	0.83[EUR][1000 genomes]
rs9635522	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9929904	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9936225	0.87[AMR][1000 genomes];0.84[EUR][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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8052031	CLEC18A	cis	Artery Aorta	GTEx
rs8052031	LOC440348	Cis_chr	lymphoblastoid	RTeQTL
rs8052031	CLEC18C	cis	Whole Blood	GTEx
rs8052031	RP11-296I10.6	cis	Thyroid	GTEx
rs8052031	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	chr16:70556000-70560200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr16:70556400-70560400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr16:70556600-70560200	Active TSS	GM12878-XiMat	blood
4	chr16:70556600-70560400	Active TSS	K562	blood
5	chr16:70558200-70561200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
6	chr16:70558800-70560200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr16:70558800-70561600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:70558800-70565200	Weak transcription	Aorta	Aorta
9	chr16:70559000-70561000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:70559000-70561400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
11	chr16:70559000-70561600	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
12	chr16:70559000-70561600	Transcr. at gene 5' and 3'	Dnd41	blood
13	chr16:70559200-70560400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr16:70559200-70561000	Enhancers	Gastric	stomach
15	chr16:70559200-70561600	Genic enhancers	Primary B cells from peripheral blood	blood
16	chr16:70559200-70561600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:70559400-70560200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:70559400-70560200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr16:70559400-70560200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr16:70559400-70560200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr16:70559400-70560200	Weak transcription	Left Ventricle	heart
22	chr16:70559400-70560400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr16:70559400-70560400	Enhancers	Primary hematopoietic stem cells	blood
24	chr16:70559400-70560400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr16:70559400-70560400	Enhancers	Adipose Nuclei	Adipose
26	chr16:70559400-70560400	Weak transcription	Brain Anterior Caudate	brain
27	chr16:70559400-70560400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr16:70559400-70560400	Enhancers	Fetal Heart	heart
29	chr16:70559400-70560400	Genic enhancers	Fetal Muscle Trunk	muscle
30	chr16:70559400-70560400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr16:70559400-70560400	Weak transcription	Stomach Mucosa	stomach
32	chr16:70559400-70560400	Active TSS	NHLF	lung
33	chr16:70559400-70560600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr16:70559400-70560600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr16:70559400-70560600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr16:70559400-70561000	Genic enhancers	Fetal Muscle Leg	muscle
37	chr16:70559400-70562400	Weak transcription	Ovary	ovary
38	chr16:70559400-70562800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr16:70559400-70564200	Weak transcription	Esophagus	oesophagus
40	chr16:70559400-70564200	Weak transcription	Right Ventricle	heart
41	chr16:70559400-70564600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:70559400-70606200	Strong transcription	Fetal Stomach	stomach
43	chr16:70559600-70560200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr16:70559600-70560200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr16:70559600-70560200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:70559600-70560200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr16:70559600-70560200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr16:70559600-70560200	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr16:70559600-70560200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr16:70559600-70560200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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