Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1098718	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1104365	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1146490	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1146493	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1146495	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1146502	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587053	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1245216	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066285	1.00[ASN][1000 genomes]
rs2066286	1.00[ASN][1000 genomes]
rs4847205	1.00[ASN][1000 genomes]
rs6683135	1.00[ASN][1000 genomes]
rs698941	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72729550	1.00[ASN][1000 genomes]
rs72729555	1.00[ASN][1000 genomes]
rs72729561	1.00[ASN][1000 genomes]
rs7519356	1.00[ASN][1000 genomes]
rs841680	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs841702	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs841703	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531881	chr1:94937444-95053785	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv870696	chr1:95005220-95081587	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95019000-95028200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:95019000-95028200	Weak transcription	Pancreas	Pancrea
3	chr1:95020400-95028200	Weak transcription	Fetal Intestine Small	intestine
4	chr1:95025800-95028400	Weak transcription	Esophagus	oesophagus
5	chr1:95026000-95028200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:95026200-95028200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:95026200-95028200	Weak transcription	Hela-S3	cervix
8	chr1:95027000-95029000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:95027200-95028200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:95027400-95028200	Enhancers	HepG2	liver
11	chr1:95027600-95028400	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr1:95027800-95028200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr1:95027800-95028400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:95028000-95028800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:95028000-95028800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:95028000-95029000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:95028000-95029000	Enhancers	Stomach Mucosa	stomach
18	chr1:95028000-95029000	Enhancers	HSMMtube	muscle
19	chr1:95028000-95029200	Enhancers	Fetal Intestine Large	intestine

Quick Search: