Variant report

Variant	rs56398539
Chromosome Location	chr8:120246425-120246426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10505354	0.91[ASN][1000 genomes]
rs11990379	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11994152	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11997485	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1364713	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1425068	0.86[ASN][1000 genomes]
rs16892237	0.91[ASN][1000 genomes]
rs16892297	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2303398	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3739419	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3812491	0.91[ASN][1000 genomes]
rs41319147	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs55636028	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55714432	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56354938	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56840596	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59656505	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs59699923	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60738905	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60879825	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73709667	0.91[ASN][1000 genomes]
rs73709668	0.91[ASN][1000 genomes]
rs73709669	0.91[ASN][1000 genomes]
rs73709670	0.91[ASN][1000 genomes]
rs73709671	0.91[ASN][1000 genomes]
rs73709673	0.91[ASN][1000 genomes]
rs73709674	0.91[ASN][1000 genomes]
rs73709675	0.91[ASN][1000 genomes]
rs73709676	0.91[ASN][1000 genomes]
rs73709677	0.91[ASN][1000 genomes]
rs73709680	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73709681	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73709684	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs73709685	0.91[ASN][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:31 , 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	chr8:120225600-120252400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr8:120230600-120261400	Weak transcription	Colonic Mucosa	Colon
4	chr8:120231000-120252400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:120231800-120254400	Weak transcription	Brain Anterior Caudate	brain
6	chr8:120233000-120252400	Weak transcription	Adipose Nuclei	Adipose
7	chr8:120239400-120261600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:120240600-120266800	Weak transcription	Stomach Mucosa	stomach
9	chr8:120240800-120252400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:120240800-120260800	Weak transcription	Gastric	stomach
11	chr8:120241000-120262400	Weak transcription	Fetal Stomach	stomach
12	chr8:120241400-120252400	Weak transcription	HMEC	breast
13	chr8:120242400-120252400	Weak transcription	NHEK	skin
14	chr8:120242400-120252600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:120242400-120260800	Weak transcription	Esophagus	oesophagus
16	chr8:120242400-120261800	Weak transcription	Pancreas	Pancrea
17	chr8:120242800-120252400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:120244200-120252400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:120244200-120255600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:120244800-120252400	Weak transcription	Liver	Liver
21	chr8:120244800-120252600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:120245000-120252400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:120245200-120252200	Weak transcription	Hela-S3	cervix
24	chr8:120245200-120252400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:120245200-120252400	Weak transcription	HepG2	liver
26	chr8:120245400-120252400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:120246200-120246600	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr8:120246200-120246600	Active TSS	H9 Cell Line	embryonic stem cell
29	chr8:120246200-120246600	Active TSS	K562	blood
30	chr8:120246200-120247000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
31	chr8:120246400-120247200	ZNF genes & repeats	Fetal Intestine Small	intestine

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