Variant report

Variant	rs1769999
Chromosome Location	chr1:193291213-193291214
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10494674	0.90[CEU][hapmap]
rs10737622	0.82[CEU][hapmap]
rs10737623	0.81[EUR][1000 genomes]
rs10754044	0.90[CEU][hapmap]
rs10754047	0.85[CEU][hapmap]
rs10754048	0.90[CEU][hapmap]
rs10754049	0.90[CEU][hapmap];0.82[GIH][hapmap];0.94[TSI][hapmap]
rs10754052	0.90[CEU][hapmap];0.82[GIH][hapmap];0.94[TSI][hapmap]
rs10754054	0.88[EUR][1000 genomes]
rs10754055	0.90[EUR][1000 genomes]
rs10801179	0.90[CEU][hapmap];0.82[GIH][hapmap];0.94[TSI][hapmap]
rs10801183	0.90[CEU][hapmap]
rs10801194	0.90[EUR][1000 genomes]
rs10921325	0.90[CEU][hapmap];0.82[GIH][hapmap];0.90[TSI][hapmap]
rs10921336	0.87[EUR][1000 genomes]
rs10921343	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12025186	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12025393	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12032958	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12034095	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12037055	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12040365	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12040832	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12041558	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12041893	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12047390	0.95[CEU][hapmap];0.82[CHB][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.81[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12048579	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12090626	0.84[GIH][hapmap]
rs12124282	0.99[ASN][1000 genomes]
rs12126529	0.90[CEU][hapmap];0.82[GIH][hapmap];0.94[TSI][hapmap]
rs1221502	0.93[EUR][1000 genomes]
rs1325197	0.86[CEU][hapmap];0.81[GIH][hapmap];0.90[TSI][hapmap]
rs1339961	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1361404	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs1361405	0.95[CEU][hapmap];0.82[CHB][hapmap];0.95[GIH][hapmap];0.87[JPT][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1616234	0.90[EUR][1000 genomes]
rs1632444	0.90[EUR][1000 genomes]
rs16835282	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16835304	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16835319	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16835320	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16835338	0.82[EUR][1000 genomes]
rs1749424	0.83[EUR][1000 genomes]
rs1749429	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1749430	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1749431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1749432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1770000	0.99[ASN][1000 genomes]
rs1972344	0.87[EUR][1000 genomes]
rs1972345	0.93[EUR][1000 genomes]
rs2050799	0.83[AMR][1000 genomes]
rs2078083	0.82[EUR][1000 genomes]
rs2182106	0.90[CEU][hapmap];0.82[GIH][hapmap];0.94[TSI][hapmap]
rs2254646	0.90[EUR][1000 genomes]
rs2275506	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2370029	0.90[CEU][hapmap];0.82[GIH][hapmap];0.94[TSI][hapmap]
rs2477549	0.91[EUR][1000 genomes]
rs2486842	0.86[EUR][1000 genomes]
rs2486843	0.99[ASN][1000 genomes]
rs4379660	0.90[CEU][hapmap];0.82[GIH][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs4428863	0.83[EUR][1000 genomes]
rs4657848	0.90[CEU][hapmap];0.82[GIH][hapmap];0.94[TSI][hapmap]
rs4657854	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4657855	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4657856	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4657858	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs475163	0.84[EUR][1000 genomes]
rs497362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs503265	0.90[EUR][1000 genomes]
rs515964	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs523402	0.87[EUR][1000 genomes]
rs524701	0.87[EUR][1000 genomes]
rs531327	0.87[ASN][1000 genomes]
rs543788	0.90[EUR][1000 genomes]
rs560900	0.93[EUR][1000 genomes]
rs569656	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs571029	0.88[EUR][1000 genomes]
rs578639	0.93[EUR][1000 genomes]
rs59264807	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6428152	0.82[CEU][hapmap]
rs6428154	0.90[CEU][hapmap]
rs6428159	0.90[CEU][hapmap];0.82[GIH][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs6428160	0.81[EUR][1000 genomes]
rs6428163	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6428166	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6662104	0.98[ASN][1000 genomes]
rs6665666	0.90[CEU][hapmap];0.82[GIH][hapmap];0.94[TSI][hapmap]
rs6671476	0.90[EUR][1000 genomes]
rs6673271	0.90[CEU][hapmap];0.94[TSI][hapmap]
rs6675833	0.90[CEU][hapmap];0.81[GIH][hapmap];0.93[TSI][hapmap]
rs6676878	0.90[CEU][hapmap];0.82[GIH][hapmap];0.94[TSI][hapmap]
rs6680224	0.90[CEU][hapmap]
rs6693734	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6697195	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6702762	0.99[ASN][1000 genomes]
rs693519	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs7515024	0.81[GIH][hapmap]
rs7518792	0.82[CEU][hapmap]
rs7519242	0.90[CEU][hapmap];0.82[GIH][hapmap];0.94[TSI][hapmap]
rs7528595	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7543029	0.99[ASN][1000 genomes]
rs7550521	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs817136	0.87[EUR][1000 genomes]
rs817138	0.85[EUR][1000 genomes]
rs817140	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs817142	0.87[EUR][1000 genomes]
rs817143	0.87[EUR][1000 genomes]
rs843844	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs942680	0.83[EUR][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	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193289200-193291400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:193289200-193292200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:193289200-193292400	Enhancers	NHEK	skin
4	chr1:193289400-193291600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:193289400-193292400	Enhancers	HMEC	breast
6	chr1:193290200-193291400	Enhancers	HSMMtube	muscle
7	chr1:193290400-193292200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:193290400-193292200	Enhancers	NH-A	brain
9	chr1:193290400-193292400	Enhancers	NHDF-Ad	bronchial
10	chr1:193290400-193292400	Enhancers	Osteobl	bone
11	chr1:193290400-193292800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:193290600-193291400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:193290600-193292400	Enhancers	HUVEC	blood vessel
14	chr1:193290800-193291800	Enhancers	HSMM	muscle
15	chr1:193290800-193292000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:193291000-193291600	Enhancers	Hela-S3	cervix
17	chr1:193291000-193292600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:193291200-193291600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:193291200-193291600	Enhancers	Fetal Intestine Large	intestine
20	chr1:193291200-193292200	Enhancers	NHLF	lung

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