Variant report

Variant	rs41292681
Chromosome Location	chr1:94490920-94490921
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	GATA1	chr1:94489360-94491111	PBDE	blood:	n/a	chr1:94489896-94489906 chr1:94489895-94489907 chr1:94490072-94490080 chr1:94489893-94489909 chr1:94489765-94489782 chr1:94489887-94489904 chr1:94489896-94489905
2	CTCF	chr1:94490464-94491961	SK-N-SH	brain:	n/a	chr1:94491602-94491618 chr1:94491606-94491616 chr1:94491603-94491624 chr1:94491601-94491619 chr1:94491604-94491613
3	RAD21	chr1:94490894-94490945	A549	lung:	n/a	n/a
4	CTCF	chr1:94490840-94490990	HPF	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94486634..94489091-chr1:94489455..94492220,2	K562	blood:

Variant related genes	Relation type
ABCA4	TF binding region
ENSG00000198691	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11803885	0.95[EUR][1000 genomes]
rs17110885	0.97[EUR][1000 genomes]
rs17110889	0.97[EUR][1000 genomes]
rs17110891	0.95[EUR][1000 genomes]
rs17110905	0.95[EUR][1000 genomes]
rs17110916	0.95[EUR][1000 genomes]
rs17389488	0.89[EUR][1000 genomes]
rs17389899	0.97[EUR][1000 genomes]
rs56253197	0.92[EUR][1000 genomes]
rs56307710	0.89[EUR][1000 genomes]
rs7535837	0.91[AFR][1000 genomes]
rs7543524	0.97[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	nsv516137	chr1:94404238-94504545	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94483800-94492400	Weak transcription	Left Ventricle	heart
2	chr1:94487200-94491400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:94487800-94491200	Weak transcription	Fetal Lung	lung
4	chr1:94487800-94491400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:94487800-94491800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:94488000-94491600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:94488000-94496600	Weak transcription	Lung	lung
8	chr1:94488200-94491000	Weak transcription	Liver	Liver
9	chr1:94488200-94491800	Weak transcription	Fetal Thymus	thymus
10	chr1:94488200-94492800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:94488200-94505000	Weak transcription	Spleen	Spleen
12	chr1:94488400-94493400	Weak transcription	Placenta	Placenta
13	chr1:94488600-94491800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:94488600-94502600	Weak transcription	Right Atrium	heart
15	chr1:94488800-94491400	Weak transcription	A549	lung
16	chr1:94489000-94491000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:94489000-94491000	Weak transcription	Osteobl	bone
18	chr1:94489000-94491200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:94489200-94491200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:94489200-94493800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:94489400-94491200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:94489400-94491200	Weak transcription	Hela-S3	cervix
23	chr1:94489400-94491400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:94489600-94491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:94490000-94491200	Weak transcription	HSMM	muscle
26	chr1:94490000-94491200	Weak transcription	HSMMtube	muscle
27	chr1:94490000-94491200	Weak transcription	HUVEC	blood vessel
28	chr1:94490800-94491200	Enhancers	NHLF	lung
29	chr1:94490800-94491400	Flanking Active TSS	HepG2	liver
30	chr1:94490800-94494200	Enhancers	HMEC	breast

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