Variant report

Variant	rs73128668
Chromosome Location	chr1:223085385-223085386
allele	C/G
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	NFIC	chr1:223085069-223085751	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr1:223085246-223085592	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr1:223085172-223086588	SK-N-SH	brain:	n/a	n/a
4	EP300	chr1:223085173-223085470	SK-N-SH_RA	brain:	n/a	n/a
5	GATA3	chr1:223085115-223086567	SK-N-SH	brain:	n/a	n/a
6	EP300	chr1:223085201-223085767	SK-N-SH_RA	brain:	n/a	n/a
7	STAT1	chr1:223085090-223085539	Hela-S3	cervix:	n/a	chr1:223085424-223085444 chr1:223085427-223085441 chr1:223085430-223085438
8	STAT3	chr1:223085363-223085529	MCF10A-Er-Src	breast:	n/a	chr1:223085424-223085444 chr1:223085427-223085441 chr1:223085430-223085438

Variant related genes	Relation type
ENSG00000239054	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17163519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2378614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28834670	1.00[EUR][1000 genomes]
rs73126884	1.00[EUR][1000 genomes]
rs73126893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73126902	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128611	1.00[EUR][1000 genomes]
rs73128618	1.00[EUR][1000 genomes]
rs73128629	1.00[EUR][1000 genomes]
rs73128632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128633	1.00[EUR][1000 genomes]
rs73128635	1.00[EUR][1000 genomes]
rs73128639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128643	1.00[EUR][1000 genomes]
rs73128645	1.00[EUR][1000 genomes]
rs73128682	1.00[EUR][1000 genomes]
rs73128692	1.00[EUR][1000 genomes]
rs73130611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv873207	chr1:223078802-223292632	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223067800-223089400	Weak transcription	Fetal Intestine Small	intestine
2	chr1:223071600-223089600	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:223071600-223092400	Weak transcription	Ovary	ovary
4	chr1:223071800-223089800	Weak transcription	Fetal Lung	lung
5	chr1:223078200-223090600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:223082600-223086200	Enhancers	NHDF-Ad	bronchial
7	chr1:223082600-223086400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:223082600-223086800	Enhancers	Osteobl	bone
9	chr1:223082800-223086200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:223082800-223086600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:223083000-223085800	Enhancers	Stomach Mucosa	stomach
12	chr1:223083000-223087000	Enhancers	NHLF	lung
13	chr1:223083200-223090200	Weak transcription	Esophagus	oesophagus
14	chr1:223083200-223090400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:223083200-223101400	Weak transcription	Fetal Heart	heart
16	chr1:223083400-223089600	Weak transcription	Psoas Muscle	Psoas
17	chr1:223083400-223089600	Weak transcription	Right Atrium	heart
18	chr1:223083400-223090400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:223083600-223090600	Weak transcription	Lung	lung
20	chr1:223083600-223101600	Weak transcription	Fetal Stomach	stomach
21	chr1:223083800-223088000	Weak transcription	Left Ventricle	heart
22	chr1:223084000-223088400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:223084200-223088600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:223084400-223088200	Weak transcription	HSMM	muscle
25	chr1:223084400-223088200	Weak transcription	HSMMtube	muscle
26	chr1:223084400-223088400	Weak transcription	Hela-S3	cervix
27	chr1:223084400-223088600	Weak transcription	NHEK	skin
28	chr1:223084600-223085400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:223084600-223086400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:223084800-223088000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:223085000-223085400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:223085000-223085800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:223085200-223085600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:223085200-223086200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:223085200-223086400	Enhancers	NH-A	brain
36	chr1:223085200-223089600	Weak transcription	Pancreas	Pancrea

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