Variant report

Variant	rs16872198
Chromosome Location	chr5:73980182-73980183
allele	A/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	USF1	chr5:73979992-73980191	HepG2	liver:	n/a	chr5:73980098-73980109 chr5:73980093-73980114

No.	Distal block	Cell Line	Cell type
1	chr5:73979598..73982392-chr5:73983812..73990818,9	MCF-7	breast:
2	chr5:73979909..73982593-chr5:73987219..73990536,5	MCF-7	breast:
3	chr5:72857771..72859719-chr5:73979974..73981658,2	K562	blood:
4	chr5:73980002..73981869-chr5:74633426..74635131,2	K562	blood:
5	chr5:73978938..73982006-chr5:74061565..74064417,3	K562	blood:
6	chr5:73979743..73983565-chr5:73984545..73990071,12	K562	blood:
7	chr5:73979647..73982006-chr5:74061742..74064417,2	K562	blood:

Variant related genes	Relation type
HEXB	TF binding region
ENSG00000164347	Chromatin interaction
ENSG00000164331	Chromatin interaction
ENSG00000049860	Chromatin interaction
ENSG00000164346	Chromatin interaction
ENSG00000113161	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10515187	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10805890	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10942716	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10942717	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11738401	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11738782	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11738805	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11746583	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11747100	0.83[ASN][1000 genomes]
rs11747317	0.83[ASN][1000 genomes]
rs11748221	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11749103	0.92[ASN][1000 genomes]
rs11749435	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11750605	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11750634	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11750747	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12233980	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12233981	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17670514	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3776481	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3894712	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4460123	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59514206	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6898989	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7445920	0.82[EUR][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	esv13844	chr5:73979961-73993853	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
2	nsv598652	chr5:73980182-73992881	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:73966800-73980200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:73966800-73980600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:73969800-73980600	Weak transcription	HMEC	breast
4	chr5:73969800-73980600	Weak transcription	HSMM	muscle
5	chr5:73969800-73980800	Weak transcription	NHLF	lung
6	chr5:73971800-73980200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:73973800-73980600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:73975200-73980200	Weak transcription	Spleen	Spleen
9	chr5:73976000-73980600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:73976200-73980200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:73976200-73980600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:73976200-73980600	Weak transcription	Osteobl	bone
13	chr5:73976200-73981000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:73976400-73980200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:73976400-73980200	Weak transcription	Hela-S3	cervix
16	chr5:73976800-73980600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:73977400-73980800	Weak transcription	HSMMtube	muscle
18	chr5:73978400-73980600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:73978400-73980600	Enhancers	Fetal Intestine Large	intestine
20	chr5:73978600-73980600	Enhancers	Fetal Intestine Small	intestine
21	chr5:73979000-73980200	Weak transcription	A549	lung
22	chr5:73979000-73980800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:73979000-73980800	Weak transcription	NH-A	brain
24	chr5:73979200-73980600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:73979200-73980600	Weak transcription	NHEK	skin
26	chr5:73979200-73980800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:73979400-73980600	Enhancers	Placenta	Placenta
28	chr5:73980000-73980400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:73980000-73980400	Bivalent Enhancer	HepG2	liver
30	chr5:73980000-73980400	Enhancers	K562	blood
31	chr5:73980000-73980600	Enhancers	Primary T cells fromperipheralblood	blood
32	chr5:73980000-73981600	Active TSS	iPS-20b Cell Line	embryonic stem cell

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