Variant report

Variant	rs6473842
Chromosome Location	chr8:54442091-54442092
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr8:54442043-54442232	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr8:54441914-54442260	MCF10A-Er-Src	breast:	n/a	n/a
3	NR3C1	chr8:54442049-54442407	A549	lung:	n/a	n/a
4	NR3C1	chr8:54441970-54442419	A549	lung:	n/a	n/a
5	MYC	chr8:54441978-54442291	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:54442083-54442133	SKMC	muscle:	n/a
2	chr8:54442083-54442133	HCM	heart:	n/a
3	chr8:54442043-54442093	CMK	blood:	n/a
4	chr8:54442043-54442093	Jurkat	blood:	n/a
5	chr8:54442083-54442133	U87	brain:	n/a
6	chr8:54442083-54442133	PFSK-1	brain:	n/a
7	chr8:54442083-54442133	PANC-1	pancreas:	n/a
8	chr8:54442043-54442093	NHDF-neo	bronchial:	n/a
9	chr8:54442043-54442093	H1-hESC	embryonic stem cell:	embryo
10	chr8:54442043-54442093	BJ	skin:	n/a
11	chr8:54442083-54442133	NHDF-neo	bronchial:	n/a
12	chr8:54442083-54442133	HCPEpiC	choroid plexus:	n/a
13	chr8:54442043-54442093	MCF-7	breast:	n/a
14	chr8:54442083-54442133	GM12892	blood:	n/a
15	chr8:54442043-54442093	GM19239	blood:	n/a
16	chr8:54442083-54442133	NH-A	brain:	n/a
17	chr8:54442043-54442093	SK-N-SH_RA	brain:	n/a
18	chr8:54442083-54442133	BE2_C	brain:	n/a
19	chr8:54442043-54442093	NB4	blood:	n/a
20	chr8:54442083-54442133	GM12878	blood:	n/a
21	chr8:54442043-54442093	HL-60	blood:	n/a
22	chr8:54442043-54442093	HEK293	kidney:	embryo
23	chr8:54442083-54442133	NHBE	bronchial:	n/a
24	chr8:54442043-54442093	HAEpiC	amniotic membrane:	n/a
25	chr8:54442043-54442093	SKMC	muscle:	n/a
26	chr8:54442043-54442093	HRE	kidney:	n/a
27	chr8:54442083-54442133	HPAEpiC	pulmonary alveolar:	n/a
28	chr8:54442083-54442133	T-47D	breast:	n/a
29	chr8:54442083-54442133	PrEC	prostate:	n/a
30	chr8:54442083-54442133	HRCEpiC	kidney:	n/a
31	chr8:54442083-54442133	SK-N-SH	brain:	n/a
32	chr8:54442083-54442133	ProgFib	skin:	n/a
33	chr8:54442043-54442093	MCF10A-Er-Src	breast:	n/a
34	chr8:54442043-54442093	AG10803	skin:	n/a
35	chr8:54442083-54442133	SK-N-SH_RA	brain:	n/a
36	chr8:54442043-54442093	Hepatocyte	liver:	n/a
37	chr8:54442083-54442133	GM19239	blood:	n/a
38	chr8:54442083-54442133	HMEC	breast:	n/a
39	chr8:54442043-54442093	GM12891	blood:	n/a
40	chr8:54442043-54442093	GM12892	blood:	n/a
41	chr8:54442043-54442093	HCT-116	colon:	n/a
42	chr8:54442083-54442133	A549	lung:	n/a
43	chr8:54442083-54442133	NB4	blood:	n/a
44	chr8:54442043-54442093	PANC-1	pancreas:	n/a
45	chr8:54442083-54442133	NT2-D1	testis:	n/a
46	chr8:54442083-54442133	HRPEpiC	eye:	n/a
47	chr8:54442083-54442133	ECC-1	luminal epithelium:	n/a
48	chr8:54442043-54442093	HCM	heart:	n/a
49	chr8:54442043-54442093	AoSMC	blood vessel:	n/a
50	chr8:54442043-54442093	RPTEC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54439653..54443224-chr8:54443655..54447094,3	K562	blood:
2	chr8:54440791..54443472-chr8:54445394..54447819,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000240919	TF binding region
ENSG00000240919	CpG island
ENSG00000240919	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10095702	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10958370	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10958371	0.85[CEU][hapmap]
rs1477956	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1477957	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17361507	1.00[CEU][hapmap];0.83[CHB][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1904072	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6473839	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6473840	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7004273	0.87[ASN][1000 genomes]
rs7812717	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7829521	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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	esv2752674	chr8:54181147-54483747	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6473842	RP11-1081M5.2	cis	Artery Tibial	GTEx
rs6473842	RP11-1081M5.1	cis	Artery Aorta	GTEx
rs6473842	RP11-1081M5.1	cis	Artery Tibial	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54440200-54443400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:54441200-54442600	Enhancers	HMEC	breast
3	chr8:54441400-54442600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:54441800-54442200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:54441800-54442200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:54441800-54442200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:54441800-54442200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:54441800-54442200	Enhancers	Fetal Muscle Trunk	muscle
9	chr8:54441800-54442200	Enhancers	Ovary	ovary
10	chr8:54441800-54442200	Flanking Active TSS	NHEK	skin
11	chr8:54441800-54442400	Enhancers	Esophagus	oesophagus
12	chr8:54441800-54442800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:54442000-54442200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:54442000-54442200	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr8:54442000-54442600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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