Variant report

Variant	rs2254646
Chromosome Location	chr1:193263010-193263011
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 165 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:162)

rs_ID	r²[population]
rs10399607	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10399929	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10494674	0.95[CEU][hapmap];0.91[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs10732293	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10733078	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10737621	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10737622	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10737623	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10754044	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs10754047	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10754048	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10754049	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs10754052	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10754053	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10754054	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10754055	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10801177	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10801178	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10801179	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs10801180	0.84[AFR][1000 genomes]
rs10801182	0.85[AFR][1000 genomes]
rs10801183	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs10801184	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10801187	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10801188	0.86[ASN][1000 genomes]
rs10801189	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10801190	0.92[ASN][1000 genomes]
rs10801191	0.96[ASN][1000 genomes]
rs10801192	0.99[ASN][1000 genomes]
rs10801194	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10921312	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs10921317	0.82[AFR][1000 genomes]
rs10921318	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10921323	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10921325	0.95[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10921326	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs10921328	0.93[ASN][1000 genomes]
rs10921330	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[ASN][1000 genomes]
rs10921334	0.96[ASN][1000 genomes]
rs10921336	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10921343	0.83[EUR][1000 genomes]
rs11577299	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12034095	0.86[EUR][1000 genomes]
rs12037055	0.86[EUR][1000 genomes]
rs12040365	0.86[EUR][1000 genomes]
rs12040832	0.80[EUR][1000 genomes]
rs12041558	0.81[EUR][1000 genomes]
rs12041893	0.86[EUR][1000 genomes]
rs12047390	0.90[CEU][hapmap];0.82[CHB][hapmap];0.81[EUR][1000 genomes]
rs12048579	0.81[EUR][1000 genomes]
rs12064521	0.93[ASN][1000 genomes]
rs12078145	0.96[ASN][1000 genomes]
rs12090626	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12126529	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12145057	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1221502	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12410213	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1325197	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1339961	0.84[EUR][1000 genomes]
rs1361404	0.82[CHB][hapmap]
rs1361405	0.90[CEU][hapmap];0.82[CHB][hapmap];0.81[EUR][1000 genomes]
rs1408830	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1416977	0.81[ASN][1000 genomes]
rs1536097	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1536098	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1536099	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1539724	0.90[JPT][hapmap]
rs1578242	0.96[ASN][1000 genomes]
rs1578243	0.96[ASN][1000 genomes]
rs1616234	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1632444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16835282	0.90[EUR][1000 genomes]
rs16835304	0.86[EUR][1000 genomes]
rs16835319	0.81[EUR][1000 genomes]
rs16835320	0.81[EUR][1000 genomes]
rs1749424	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1749429	0.83[EUR][1000 genomes]
rs1749430	0.89[EUR][1000 genomes]
rs1749431	0.89[EUR][1000 genomes]
rs1749432	0.90[EUR][1000 genomes]
rs1769999	0.90[EUR][1000 genomes]
rs1972344	0.89[EUR][1000 genomes]
rs1972345	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2078083	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2181408	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs2182106	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2186016	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2251699	0.96[ASN][1000 genomes]
rs2370029	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs2477549	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2486842	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3738244	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[ASN][1000 genomes]
rs3806351	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4379660	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4450000	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4466634	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4657744	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4657745	0.80[AFR][1000 genomes]
rs4657747	0.93[ASN][1000 genomes]
rs4657847	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4657848	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4657854	0.86[EUR][1000 genomes]
rs4657855	0.86[EUR][1000 genomes]
rs474328	0.96[ASN][1000 genomes]
rs475163	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs497362	0.88[EUR][1000 genomes]
rs503265	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs515964	0.88[EUR][1000 genomes]
rs523402	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs524701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs543788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs560900	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs569656	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs571029	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs578639	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59264807	0.90[EUR][1000 genomes]
rs6428151	0.83[AFR][1000 genomes]
rs6428152	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6428153	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6428154	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6428155	0.84[ASN][1000 genomes]
rs6428156	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6428157	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6428159	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6428160	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6428163	0.86[EUR][1000 genomes]
rs6428166	0.86[EUR][1000 genomes]
rs6663162	0.86[ASN][1000 genomes]
rs6665069	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs6665666	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6671237	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs6671476	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6673271	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6675827	0.96[ASN][1000 genomes]
rs6675833	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6676878	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6680224	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6689006	0.92[ASN][1000 genomes]
rs6693734	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs6697079	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs693519	0.91[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7514072	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7515024	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[ASN][1000 genomes]
rs7518792	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7519242	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7528595	0.90[EUR][1000 genomes]
rs7545223	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7546869	0.84[ASN][1000 genomes]
rs7547615	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7550521	0.86[EUR][1000 genomes]
rs7554925	0.83[ASN][1000 genomes]
rs817136	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs817138	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs817140	0.90[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs817142	0.89[EUR][1000 genomes]
rs817143	0.89[EUR][1000 genomes]
rs843844	0.91[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs912070	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs912071	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs942680	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9783104	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs9887974	0.80[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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193243800-193267800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:193255200-193280400	Weak transcription	HSMM	muscle
3	chr1:193262800-193263200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:193262800-193263200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:193262800-193263400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:193262800-193264000	Enhancers	Fetal Brain Male	brain
7	chr1:193263000-193263400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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