Variant report

Variant	rs1485298
Chromosome Location	chr8:120079206-120079207
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:120079173-120079223	NHBE	bronchial:	n/a
2	chr8:120079173-120079223	U87	brain:	n/a
3	chr8:120079173-120079223	MCF10A-Er-Src	breast:	n/a
4	chr8:120079173-120079223	HL-60	blood:	n/a
5	chr8:120079173-120079223	PFSK-1	brain:	n/a
6	chr8:120079173-120079223	NH-A	brain:	n/a
7	chr8:120079173-120079223	SAEC	small airway:	n/a
8	chr8:120079173-120079223	ovcar-3	ovarian:	n/a
9	chr8:120079173-120079223	SK-N-SH_RA	brain:	n/a
10	chr8:120079173-120079223	NB4	blood:	n/a
11	chr8:120079173-120079223	K562	blood:	n/a
12	chr8:120079173-120079223	HCPEpiC	choroid plexus:	n/a
13	chr8:120079173-120079223	SK-N-MC	brain:	n/a
14	chr8:120079173-120079223	AG09309	skin:	n/a
15	chr8:120079173-120079223	Caco-2	colon:	n/a
16	chr8:120079173-120079223	SK-N-SH	brain:	n/a
17	chr8:120079173-120079223	SKMC	muscle:	n/a
18	chr8:120079173-120079223	HEK293	kidney:	embryo
19	chr8:120079173-120079223	HEEpiC	esophagus:	n/a
20	chr8:120079173-120079223	HAEpiC	amniotic membrane:	n/a
21	chr8:120079173-120079223	HCM	heart:	n/a
22	chr8:120079173-120079223	BJ	skin:	n/a
23	chr8:120079173-120079223	BE2_C	brain:	n/a
24	chr8:120079173-120079223	HepG2	liver:	n/a
25	chr8:120079173-120079223	HCT-116	colon:	n/a
26	chr8:120079173-120079223	HNPCEpiC	eye:	n/a
27	chr8:120079173-120079223	AG09319	gingival:	n/a
28	chr8:120079173-120079223	HRE	kidney:	n/a
29	chr8:120079173-120079223	HIPEpiC	eye:	n/a
30	chr8:120079173-120079223	AG10803	skin:	n/a
31	chr8:120079173-120079223	PrEC	prostate:	n/a
32	chr8:120079173-120079223	GM06990	blood:	n/a
33	chr8:120079173-120079223	HUVEC	blood vessel:	n/a
34	chr8:120079173-120079223	Jurkat	blood:	n/a
35	chr8:120079173-120079223	NHDF-neo	bronchial:	n/a
36	chr8:120079173-120079223	GM19239	blood:	n/a
37	chr8:120079173-120079223	ECC-1	luminal epithelium:	n/a
38	chr8:120079173-120079223	Hepatocyte	liver:	n/a
39	chr8:120079173-120079223	GM12891	blood:	n/a
40	chr8:120079173-120079223	HRCEpiC	kidney:	n/a
41	chr8:120079173-120079223	HMEC	breast:	n/a
42	chr8:120079173-120079223	GM12878	blood:	n/a
43	chr8:120079173-120079223	H1-hESC	embryonic stem cell:	embryo
44	chr8:120079173-120079223	MCF-7	breast:	n/a
45	chr8:120079173-120079223	A549	lung:	n/a
46	chr8:120079173-120079223	HRPEpiC	eye:	n/a
47	chr8:120079173-120079223	ProgFib	skin:	n/a
48	chr8:120079173-120079223	HCF	heart:	n/a
49	chr8:120079173-120079223	GM12892	blood:	n/a
50	chr8:120079173-120079223	PANC-1	pancreas:	n/a

No data

Variant related genes	Relation type
COLEC10	CpG island

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1156545	0.91[YRI][hapmap]
rs1385496	0.95[YRI][hapmap]
rs2450058	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2465383	0.95[YRI][hapmap]

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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1485298	TNFRSF11B	cis	lymphoblastoid	seeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120076200-120079800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:120077200-120079800	Weak transcription	Hela-S3	cervix
3	chr8:120078200-120080000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:120078800-120080600	Enhancers	Fetal Stomach	stomach
5	chr8:120079000-120080600	Enhancers	Fetal Lung	lung
6	chr8:120079200-120080000	Enhancers	HUVEC	blood vessel
7	chr8:120079200-120080600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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