Variant report

Variant	rs1845243
Chromosome Location	chr1:95163493-95163494
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1000075	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11590128	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1891872	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1892465	0.86[ASN][1000 genomes]
rs1892467	0.87[ASN][1000 genomes]
rs2391386	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4847212	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56044473	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6541359	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6666226	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6672929	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6691021	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7522944	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7538767	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs955723	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv871001	chr1:95128546-95171891	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv871916	chr1:95143999-95189230	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv437228	chr1:95146564-95164436	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1001043	chr1:95158042-95185906	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95126800-95164200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:95142800-95167800	Weak transcription	Pancreas	Pancrea
3	chr1:95145200-95163600	Weak transcription	Stomach Mucosa	stomach
4	chr1:95151400-95165800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:95152800-95195000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:95153000-95173000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:95153400-95167600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:95155000-95163600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:95155800-95173200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:95160200-95163800	Weak transcription	Fetal Intestine Small	intestine
11	chr1:95160200-95166400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:95160400-95167800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:95162600-95163800	Enhancers	HepG2	liver
14	chr1:95162800-95165200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:95163200-95163800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:95163200-95164400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:95163200-95164800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:95163200-95165000	Enhancers	NH-A	brain
19	chr1:95163200-95165000	Enhancers	NHLF	lung
20	chr1:95163200-95165200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:95163200-95165800	Enhancers	Fetal Intestine Large	intestine
22	chr1:95163200-95169000	Enhancers	NHDF-Ad	bronchial
23	chr1:95163400-95163800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:95163400-95164000	Enhancers	A549	lung
25	chr1:95163400-95164400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr1:95163400-95164600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:95163400-95165000	Enhancers	Hela-S3	cervix
28	chr1:95163400-95165200	Enhancers	Osteobl	bone
29	chr1:95163400-95166000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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