Variant report

Variant	rs56840596
Chromosome Location	chr8:120244809-120244810
allele	C/T
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	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1425068	0.86[ASN][1000 genomes]
rs16892237	0.91[ASN][1000 genomes]
rs16892297	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2303398	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3739419	0.87[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	0.96[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]
rs56398539	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59656505	0.91[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs59699923	0.86[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	0.94[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	0.92[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:32 , 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	chr8:120229800-120246200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:120230600-120261400	Weak transcription	Colonic Mucosa	Colon
5	chr8:120231000-120252400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:120231800-120254400	Weak transcription	Brain Anterior Caudate	brain
7	chr8:120232000-120245200	Weak transcription	Fetal Kidney	kidney
8	chr8:120233000-120252400	Weak transcription	Adipose Nuclei	Adipose
9	chr8:120238800-120245000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:120239400-120261600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:120240600-120266800	Weak transcription	Stomach Mucosa	stomach
12	chr8:120240800-120252400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:120240800-120260800	Weak transcription	Gastric	stomach
14	chr8:120241000-120262400	Weak transcription	Fetal Stomach	stomach
15	chr8:120241400-120252400	Weak transcription	HMEC	breast
16	chr8:120242400-120246200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:120242400-120246200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:120242400-120246400	Weak transcription	Fetal Intestine Small	intestine
19	chr8:120242400-120252400	Weak transcription	NHEK	skin
20	chr8:120242400-120252600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:120242400-120260800	Weak transcription	Esophagus	oesophagus
22	chr8:120242400-120261800	Weak transcription	Pancreas	Pancrea
23	chr8:120242800-120252400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:120243600-120245200	Enhancers	HepG2	liver
25	chr8:120243600-120245400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr8:120244000-120245200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr8:120244200-120252400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:120244200-120255600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:120244600-120245200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:120244600-120245200	Strong transcription	Hela-S3	cervix
31	chr8:120244800-120252400	Weak transcription	Liver	Liver
32	chr8:120244800-120252600	Weak transcription	Rectal Mucosa Donor 31	rectum

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