Variant report

Variant	rs12548745
Chromosome Location	chr8:103948121-103948122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr8:103948001-103948376	K562	blood:	n/a	n/a
2	USF2	chr8:103947976-103948176	GM12878	blood:	n/a	n/a
3	E2F6	chr8:103947847-103948632	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr8:103947981-103948253	H1-hESC	embryonic stem cell:	n/a	n/a
5	NFYA	chr8:103948059-103948215	GM12878	blood:	n/a	chr8:103948157-103948175
6	USF1	chr8:103947966-103948299	K562	blood:	n/a	n/a
7	USF1	chr8:103947987-103948244	A549	lung:	n/a	n/a
8	JUND	chr8:103948065-103948175	HepG2	liver:	n/a	n/a
9	USF1	chr8:103947923-103948359	ECC-1	luminal epithelium:	n/a	n/a
10	USF1	chr8:103947974-103948270	A549	lung:	n/a	n/a
11	USF1	chr8:103947922-103948389	K562	blood:	n/a	n/a
12	USF1	chr8:103947904-103948353	HCT-116	colon:	n/a	n/a
13	USF1	chr8:103947907-103948397	H1-hESC	embryonic stem cell:	n/a	n/a
14	NFYB	chr8:103948003-103948343	GM12878	blood:	n/a	n/a
15	USF1	chr8:103948005-103948338	ECC-1	luminal epithelium:	n/a	n/a
16	USF1	chr8:103947921-103948341	H1-hESC	embryonic stem cell:	n/a	n/a
17	USF2	chr8:103947962-103948250	H1-hESC	embryonic stem cell:	n/a	n/a
18	USF1	chr8:103948066-103948226	HepG2	liver:	n/a	n/a
19	E2F6	chr8:103947984-103948415	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103941652..103943631-chr8:103947233..103949355,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KB-1507C5.2.1-4	chr8:103946913-103948344	l_3661_chr8:103945582-103948344_thyroid

No data

Variant related genes	Relation type
ENSG00000253320	TF binding region
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10505040	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12546479	1.00[CHB][hapmap]
rs12546960	1.00[CHB][hapmap]
rs12547652	1.00[CHB][hapmap]
rs1533182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17197736	1.00[CHB][hapmap]
rs17198079	1.00[CHB][hapmap]
rs17775390	1.00[CHB][hapmap]
rs4734066	1.00[CHB][hapmap]
rs4734674	1.00[CHB][hapmap]
rs4734680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526538	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62526539	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6468846	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6998032	0.93[AMR][1000 genomes];0.85[EUR][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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv891246	chr8:103928940-103967694	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103932200-103959400	Weak transcription	Fetal Brain Female	brain
2	chr8:103937800-103956000	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:103940200-103972600	Weak transcription	Ovary	ovary
4	chr8:103942400-103948200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:103942400-103949200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:103943000-103948200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:103943000-103951800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:103943600-103952000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:103943800-103973600	Weak transcription	Fetal Kidney	kidney
10	chr8:103944200-103952000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:103945000-103953200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:103945200-103949600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:103945400-103956800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr8:103946400-103949200	Weak transcription	Pancreas	Pancrea
15	chr8:103946400-103949600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:103946600-103949800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:103946800-103974000	Weak transcription	Brain Germinal Matrix	brain
18	chr8:103947600-103963400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr8:103947800-103948400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr8:103948000-103948400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
21	chr8:103948000-103948600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:103948000-103948600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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