Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:224750380-224750530	HBMEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
CNIH3	TF binding region

rSNPs within LD-proxies of this variant (count:3)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv873224	chr1:224746577-224794913	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	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	chr1:224740000-224762200	Weak transcription	Ovary	ovary
2	chr1:224741400-224751400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:224742000-224753000	Weak transcription	Pancreas	Pancrea
4	chr1:224747000-224751000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:224747200-224751400	Weak transcription	Psoas Muscle	Psoas
6	chr1:224747200-224751600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:224748200-224752200	Weak transcription	Osteobl	bone
8	chr1:224749000-224753200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:224749200-224752400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:224749400-224753200	Enhancers	NHDF-Ad	bronchial
11	chr1:224750000-224750600	Enhancers	NHLF	lung
12	chr1:224750000-224753200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:224750000-224754000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:224750000-224754000	Enhancers	HMEC	breast
15	chr1:224750200-224752400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:224750400-224750600	Enhancers	HUVEC	blood vessel
17	chr1:224750400-224750800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:224750400-224750800	Enhancers	NH-A	brain
19	chr1:224750400-224751400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:224750400-224754000	Enhancers	NHEK	skin

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