Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr1:94492563-94492861	GM12878	blood:	n/a	chr1:94492726-94492739
2	GATA1	chr1:94491902-94492856	PBDE	blood:	n/a	chr1:94492236-94492249 chr1:94492238-94492246 chr1:94492759-94492767
3	NFE2	chr1:94492557-94492597	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94489894..94491472-chr1:94492478..94495147,2	K562	blood:

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

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

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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94488000-94496600	Weak transcription	Lung	lung
2	chr1:94488200-94492800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:94488200-94505000	Weak transcription	Spleen	Spleen
4	chr1:94488400-94493400	Weak transcription	Placenta	Placenta
5	chr1:94488600-94502600	Weak transcription	Right Atrium	heart
6	chr1:94489200-94493800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:94490800-94494200	Enhancers	HMEC	breast
8	chr1:94491200-94494200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:94491400-94492800	Enhancers	GM12878-XiMat	blood
10	chr1:94491400-94494000	Enhancers	NHEK	skin
11	chr1:94491400-94499000	Enhancers	HepG2	liver
12	chr1:94491600-94494400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:94491600-94496600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:94491800-94496600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:94492000-94493200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:94492000-94496400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:94492200-94496000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:94492200-94497200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:94492200-94510000	Weak transcription	Aorta	Aorta
20	chr1:94492400-94492600	Enhancers	Left Ventricle	heart

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