Variant report

Variant	rs7549799
Chromosome Location	chr1:57048515-57048516
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr1:57048498-57048708	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57044467..57046769-chr1:57047569..57049948,2	MCF-7	breast:
2	chr1:57043720..57045227-chr1:57047518..57050298,2	K562	blood:

Variant related genes	Relation type
PPAP2B	TF binding region
ENSG00000162407	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1041604	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10789030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12126955	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1777275	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2065553	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2065555	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2404719	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2404983	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4469733	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57045400-57050800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:57045400-57051800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:57046000-57049000	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:57046000-57050200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:57046000-57050200	Weak transcription	Brain Angular Gyrus	brain
6	chr1:57046000-57050200	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:57046000-57050400	Weak transcription	HSMM	muscle
8	chr1:57046000-57050800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:57046200-57050200	Weak transcription	Brain Substantia Nigra	brain
10	chr1:57046200-57050400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:57046200-57050400	Weak transcription	A549	lung
12	chr1:57046200-57051400	Weak transcription	Osteobl	bone
13	chr1:57046400-57050200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:57047200-57050200	Weak transcription	NHLF	lung
15	chr1:57047400-57050200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:57047600-57050200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:57047600-57050200	Weak transcription	Fetal Lung	lung
18	chr1:57047600-57050200	Weak transcription	HepG2	liver
19	chr1:57047600-57050200	Weak transcription	NHDF-Ad	bronchial
20	chr1:57047600-57050400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:57047800-57048800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:57048000-57050200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:57048000-57050800	Weak transcription	Liver	Liver
24	chr1:57048000-57056000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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