Variant report

Variant	rs12675172
Chromosome Location	chr8:120222625-120222626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12677274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677951	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13256406	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13261795	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13262685	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13269824	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13281087	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1346014	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1364705	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871600	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986732	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs929953	0.85[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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120221400-120223400	Flanking Active TSS	Hela-S3	cervix
2	chr8:120221600-120223200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:120222000-120222800	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr8:120222000-120223000	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr8:120222000-120224000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:120222200-120222800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:120222200-120222800	Active TSS	Duodenum Mucosa	Duodenum
8	chr8:120222200-120222800	Weak transcription	Stomach Mucosa	stomach
9	chr8:120222200-120223000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:120222200-120223200	Enhancers	Adipose Nuclei	Adipose
11	chr8:120222200-120223200	Enhancers	Fetal Brain Male	brain
12	chr8:120222200-120223400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:120222200-120223400	Enhancers	Fetal Intestine Large	intestine
14	chr8:120222200-120224000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:120222200-120227200	Weak transcription	Lung	lung
16	chr8:120222200-120227600	Weak transcription	Esophagus	oesophagus
17	chr8:120222200-120241200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:120222200-120241400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:120222400-120222800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr8:120222400-120222800	Active TSS	NHEK	skin
21	chr8:120222400-120223000	Flanking Active TSS	Liver	Liver
22	chr8:120222400-120223000	Weak transcription	Fetal Intestine Small	intestine
23	chr8:120222400-120223200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr8:120222400-120223400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr8:120222400-120223800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr8:120222400-120226200	Weak transcription	Gastric	stomach
27	chr8:120222400-120227200	Weak transcription	Pancreas	Pancrea
28	chr8:120222400-120227600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr8:120222400-120230400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:120222400-120234600	Weak transcription	HMEC	breast
31	chr8:120222400-120240200	Weak transcription	Fetal Stomach	stomach
32	chr8:120222600-120222800	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr8:120222600-120223000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr8:120222600-120223000	Flanking Active TSS	HepG2	liver
35	chr8:120222600-120223400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr8:120222600-120223800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:120222600-120236800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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