Variant report

Variant	rs10493221
Chromosome Location	chr1:57869760-57869761
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57866069..57868024-chr1:57868935..57871351,2	K562	blood:

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10493219	0.90[CHB][hapmap]
rs1077424	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs10889036	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs10889037	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs10889038	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs10889039	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs10889041	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs10889042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10889043	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889044	0.89[CHB][hapmap];0.93[ASN][1000 genomes]
rs11207007	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs11207012	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs11207016	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs11207022	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11207024	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207025	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207027	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11207028	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207029	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585751	0.90[CHB][hapmap];0.93[ASN][1000 genomes]
rs11590708	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs11799925	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs11803514	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12061812	0.80[CHB][hapmap]
rs12092706	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119147	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs12119210	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs12126723	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs12136107	0.90[CHB][hapmap]
rs12137169	0.90[CHB][hapmap];0.93[ASN][1000 genomes]
rs12139429	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs12142821	0.80[CHB][hapmap]
rs12240237	0.91[CHB][hapmap];0.88[JPT][hapmap]
rs1240442	0.80[CHB][hapmap]
rs12565446	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs12741210	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs1424462	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs1424463	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1424464	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs1424465	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs1424466	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs1424467	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs1424469	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs1504594	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs166514	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs17115686	0.90[CHB][hapmap]
rs17115750	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17423255	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs17424216	0.90[CHB][hapmap]
rs17425017	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs17456661	0.80[CHB][hapmap]
rs17458730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17458751	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17459384	0.89[CHB][hapmap];0.93[ASN][1000 genomes]
rs1778032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1778033	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1834151	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs1862925	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs2113454	0.81[ASN][1000 genomes]
rs2216808	0.80[CHB][hapmap]
rs2405697	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2405994	0.90[CHB][hapmap];0.93[ASN][1000 genomes]
rs267651	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs269038	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs269042	0.90[JPT][hapmap]
rs269044	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs269045	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs269048	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs269049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs269050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs269051	0.82[ASN][1000 genomes]
rs269054	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs269057	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3738553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3844041	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3850550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3850552	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850556	0.96[CEU][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3861833	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3861834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3896279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3909556	0.90[CHB][hapmap]
rs3909557	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4912163	0.80[CHB][hapmap]
rs4912244	0.88[CHB][hapmap]
rs4912246	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4912247	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs499339	0.89[JPT][hapmap]
rs511115	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs515148	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs516918	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517825	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs532926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs539310	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs540431	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs553674	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs563099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs563270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs564880	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs564951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs565032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs566847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs567773	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs574726	0.89[JPT][hapmap]
rs61769670	0.81[ASN][1000 genomes]
rs61769756	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6587767	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs6587768	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687842	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs6687934	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs72674892	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7513076	0.80[CHB][hapmap]
rs7528735	0.89[CHB][hapmap]
rs90940	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57860400-57874600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:57862400-57870800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:57862400-57873200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:57863800-57875400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:57864400-57873400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:57866600-57870600	Weak transcription	Stomach Mucosa	stomach
7	chr1:57867400-57872800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:57867600-57874400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:57867800-57870400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:57867800-57874600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:57867800-57875400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:57868000-57873600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:57868200-57870000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:57869200-57870400	Weak transcription	Fetal Brain Male	brain

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