Variant report

Variant	rs16893931
Chromosome Location	chr8:120259443-120259444
allele	C/T
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	MAFK	chr8:120259417-120259714	HepG2	liver:	n/a	chr8:120259555-120259570
2	MAFK	chr8:120259430-120259710	HepG2	liver:	n/a	chr8:120259555-120259570
3	MAFF	chr8:120259440-120259648	HepG2	liver:	n/a	chr8:120259554-120259572

Variant related genes	Relation type
ENSG00000253972	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10085996	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10089152	0.82[AFR][1000 genomes]
rs10095680	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10096000	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10096057	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10098908	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10099340	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10099506	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10106870	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11985660	1.00[AMR][1000 genomes]
rs11989972	1.00[EUR][1000 genomes]
rs11996164	1.00[AMR][1000 genomes]
rs16891967	1.00[EUR][1000 genomes]
rs16891968	1.00[EUR][1000 genomes]
rs16892003	1.00[EUR][1000 genomes]
rs16892250	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892252	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892265	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892295	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28431156	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28488659	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28490160	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28574990	1.00[EUR][1000 genomes]
rs28581955	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28687971	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28880939	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28886608	0.84[AFR][1000 genomes]
rs34834488	1.00[EUR][1000 genomes]
rs4286978	1.00[EUR][1000 genomes]
rs4571759	1.00[EUR][1000 genomes]
rs58144012	1.00[EUR][1000 genomes]
rs60049650	1.00[EUR][1000 genomes]
rs60594924	1.00[EUR][1000 genomes]
rs6981519	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6995289	1.00[EUR][1000 genomes]
rs6996734	0.87[AFR][1000 genomes]
rs6996747	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7014726	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7014995	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7015572	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7357395	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7357442	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7357534	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73712716	1.00[EUR][1000 genomes]
rs7824695	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120223800-120262400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:120230600-120261400	Weak transcription	Colonic Mucosa	Colon
3	chr8:120239400-120261600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:120240600-120266800	Weak transcription	Stomach Mucosa	stomach
5	chr8:120240800-120260800	Weak transcription	Gastric	stomach
6	chr8:120241000-120262400	Weak transcription	Fetal Stomach	stomach
7	chr8:120242400-120260800	Weak transcription	Esophagus	oesophagus
8	chr8:120242400-120261800	Weak transcription	Pancreas	Pancrea
9	chr8:120247200-120260800	Weak transcription	Fetal Intestine Small	intestine
10	chr8:120252200-120261800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:120252400-120261400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:120252400-120262200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:120252400-120262200	Strong transcription	Liver	Liver
14	chr8:120252800-120261400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:120252800-120262400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:120253000-120260400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:120253200-120262800	Weak transcription	Adipose Nuclei	Adipose
18	chr8:120253600-120262000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:120254400-120261800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:120254600-120260000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:120255400-120262400	Weak transcription	HepG2	liver
22	chr8:120256200-120260600	Weak transcription	NHEK	skin
23	chr8:120256400-120262400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr8:120257200-120260600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:120257200-120260600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr8:120257200-120260600	Weak transcription	Hela-S3	cervix
27	chr8:120257200-120262800	Weak transcription	Fetal Intestine Large	intestine
28	chr8:120257400-120260800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr8:120257600-120260600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:120257800-120259800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr8:120257800-120260600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:120258400-120262000	Strong transcription	Duodenum Mucosa	Duodenum
33	chr8:120259200-120260600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:120259400-120262600	Weak transcription	HMEC	breast

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