Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr1:70598373-70599501	SK-N-SH	brain:	n/a	chr1:70598805-70598824 chr1:70598807-70598814
2	CTCF	chr1:70599160-70599310	HBMEC	blood vessel:	n/a	n/a
3	SMC3	chr1:70598330-70599444	SK-N-SH	brain:	n/a	chr1:70598806-70598820

No.	Distal block	Cell Line	Cell type
1	chr1:70598733..70599411-chr1:70975919..70976580,3	K562	blood:
2	chr1:70597641..70600279-chr1:70669633..70672162,2	MCF-7	breast:
3	chr1:70597842..70600180-chr1:70601599..70604524,2	K562	blood:
4	chr1:70598733..70599323-chr1:70953323..70954135,2	K562	blood:

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs169172	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[AFR][1000 genomes]
rs35460120	1.00[AFR][1000 genomes]
rs574587	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[AFR][1000 genomes]
rs595662	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[AFR][1000 genomes]
rs647872	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[AFR][1000 genomes]
rs699221	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72678626	1.00[AMR][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	nsv531879	chr1:70386455-70644617	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005397	chr1:70598803-70634585	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 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	chr1:70557000-70599600	Weak transcription	Fetal Brain Female	brain
2	chr1:70583800-70599600	Weak transcription	Fetal Heart	heart
3	chr1:70596800-70609200	Weak transcription	Liver	Liver
4	chr1:70598400-70601200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:70598800-70599400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:70598800-70599800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:70598800-70600200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr1:70598800-70600200	Enhancers	NHLF	lung
9	chr1:70598800-70601200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:70599000-70600400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr1:70599000-70600400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:70599000-70600400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:70599000-70606000	Weak transcription	Osteobl	bone
14	chr1:70599000-70606600	Weak transcription	K562	blood
15	chr1:70599000-70609600	Weak transcription	GM12878-XiMat	blood
16	chr1:70599200-70599600	Weak transcription	Brain Germinal Matrix	brain
17	chr1:70599200-70599600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:70599200-70600000	Weak transcription	Hela-S3	cervix
19	chr1:70599200-70600200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:70599200-70600400	Enhancers	NHDF-Ad	bronchial

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