Variant report

Variant	rs524701
Chromosome Location	chr1:193243269-193243270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10399607	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10399929	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10494674	0.82[AFR][1000 genomes]
rs10732293	0.97[ASN][1000 genomes]
rs10737623	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10754044	0.83[AFR][1000 genomes]
rs10754049	0.84[AFR][1000 genomes]
rs10754052	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10754053	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10754054	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10754055	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10801179	0.85[AFR][1000 genomes]
rs10801180	0.84[AFR][1000 genomes]
rs10801182	0.85[AFR][1000 genomes]
rs10801187	0.87[ASN][1000 genomes]
rs10801188	0.88[ASN][1000 genomes]
rs10801189	0.89[ASN][1000 genomes]
rs10801190	0.96[ASN][1000 genomes]
rs10801191	1.00[ASN][1000 genomes]
rs10801192	0.97[ASN][1000 genomes]
rs10801194	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10921317	0.82[AFR][1000 genomes]
rs10921323	0.88[ASN][1000 genomes]
rs10921325	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10921326	0.89[ASN][1000 genomes]
rs10921328	0.97[ASN][1000 genomes]
rs10921330	0.99[ASN][1000 genomes]
rs10921334	1.00[ASN][1000 genomes]
rs10921336	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10921343	0.80[EUR][1000 genomes]
rs12034095	0.83[EUR][1000 genomes]
rs12037055	0.83[EUR][1000 genomes]
rs12040365	0.83[EUR][1000 genomes]
rs12041893	0.83[EUR][1000 genomes]
rs12064521	0.97[ASN][1000 genomes]
rs12078145	1.00[ASN][1000 genomes]
rs1221502	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12410213	0.97[ASN][1000 genomes]
rs1325197	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1339961	0.81[EUR][1000 genomes]
rs1408830	0.96[ASN][1000 genomes]
rs1536097	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1536098	0.99[ASN][1000 genomes]
rs1536099	0.99[ASN][1000 genomes]
rs1578242	1.00[ASN][1000 genomes]
rs1578243	1.00[ASN][1000 genomes]
rs1616234	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1632444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16835282	0.87[EUR][1000 genomes]
rs16835304	0.83[EUR][1000 genomes]
rs1749424	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1749429	0.80[EUR][1000 genomes]
rs1749430	0.86[EUR][1000 genomes]
rs1749431	0.86[EUR][1000 genomes]
rs1749432	0.87[EUR][1000 genomes]
rs1769999	0.87[EUR][1000 genomes]
rs1972344	0.86[EUR][1000 genomes]
rs1972345	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2078083	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2182106	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2251699	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2477549	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2486842	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3738244	0.99[ASN][1000 genomes]
rs4379660	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4657745	0.80[AFR][1000 genomes]
rs4657747	0.97[ASN][1000 genomes]
rs4657848	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4657854	0.83[EUR][1000 genomes]
rs4657855	0.83[EUR][1000 genomes]
rs474328	1.00[ASN][1000 genomes]
rs475163	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs497362	0.85[EUR][1000 genomes]
rs503265	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs515964	0.85[EUR][1000 genomes]
rs523402	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs543788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs560900	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs569656	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs571029	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs578639	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59264807	0.87[EUR][1000 genomes]
rs6428151	0.83[AFR][1000 genomes]
rs6428153	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6428154	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6428155	0.86[ASN][1000 genomes]
rs6428156	0.89[ASN][1000 genomes]
rs6428157	0.99[ASN][1000 genomes]
rs6428159	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6428160	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6428163	0.83[EUR][1000 genomes]
rs6428166	0.83[EUR][1000 genomes]
rs6663162	0.88[ASN][1000 genomes]
rs6665666	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6671476	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6675827	1.00[ASN][1000 genomes]
rs6675833	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6676878	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6680224	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6689006	0.96[ASN][1000 genomes]
rs6693734	0.83[EUR][1000 genomes]
rs6697079	0.96[ASN][1000 genomes]
rs693519	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7515024	0.99[ASN][1000 genomes]
rs7518792	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7528595	0.87[EUR][1000 genomes]
rs7545223	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7546869	0.86[ASN][1000 genomes]
rs7550521	0.83[EUR][1000 genomes]
rs7554925	0.86[ASN][1000 genomes]
rs817136	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817138	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs817140	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs817142	0.86[EUR][1000 genomes]
rs817143	0.86[EUR][1000 genomes]
rs843844	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs942680	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
2	chr1:193187000-193245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:193217000-193244600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:193218600-193258200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:193222400-193253800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:193228400-193243600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:193228400-193244600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:193229000-193254800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:193231600-193251200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:193232000-193249400	Weak transcription	Fetal Heart	heart
11	chr1:193232600-193244600	Weak transcription	Primary T cells from cord blood	blood
12	chr1:193235400-193252000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:193235400-193252200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:193239800-193254600	Weak transcription	HSMM	muscle
15	chr1:193240600-193243400	Weak transcription	HSMMtube	muscle
16	chr1:193241000-193243400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:193241000-193251800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:193242200-193243800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:193243000-193243800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:193243200-193244800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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