Variant report

Variant	rs2722875
Chromosome Location	chr8:95715507-95715508
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11986843	0.86[EUR][1000 genomes]
rs11991001	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12176630	0.86[EUR][1000 genomes]
rs16916994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722882	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7000241	0.86[EUR][1000 genomes]
rs73697004	0.82[EUR][1000 genomes]
rs9642929	0.92[EUR][1000 genomes];0.89[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 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	chr8:95680600-95718400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:95690600-95722600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:95700400-95719800	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr8:95702400-95719800	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:95702400-95720400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:95702600-95719400	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:95702600-95720200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:95702800-95720200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:95703200-95716800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:95704200-95719400	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr8:95705800-95719800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:95706000-95718800	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr8:95706200-95720600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:95706600-95717800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:95707800-95718800	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr8:95710600-95718800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:95710800-95722200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr8:95711000-95717800	Weak transcription	Lung	lung
19	chr8:95711200-95718400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:95711600-95717200	Strong transcription	Fetal Intestine Small	intestine
21	chr8:95712600-95728800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:95712800-95715600	Weak transcription	HMEC	breast
23	chr8:95712800-95717800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr8:95712800-95717800	Weak transcription	Colonic Mucosa	Colon
25	chr8:95712800-95718200	Weak transcription	Placenta	Placenta
26	chr8:95712800-95718400	Weak transcription	Stomach Mucosa	stomach
27	chr8:95712800-95720200	Weak transcription	Esophagus	oesophagus
28	chr8:95713000-95715600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:95713000-95730600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr8:95714000-95715600	Weak transcription	NHEK	skin
31	chr8:95714000-95719800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:95714200-95715800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:95714400-95715800	Weak transcription	Pancreas	Pancrea
34	chr8:95714400-95731400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:95715200-95720800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:95715400-95716200	Strong transcription	Fetal Intestine Large	intestine
37	chr8:95715400-95719400	Strong transcription	Rectal Mucosa Donor 29	rectum

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