Variant report

Variant	rs633544
Chromosome Location	chr1:225408734-225408735
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 156 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs1067206	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1067207	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10799296	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10915791	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10915797	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10915798	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10915802	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10915803	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10915806	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11487469	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11577306	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11578729	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11580638	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11582482	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11583802	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11584486	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11585032	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11585124	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11586783	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12064555	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12068189	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12068193	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12073257	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12077485	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12077966	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12088056	0.83[AFR][1000 genomes]
rs12090119	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12097990	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12402229	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12403292	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12403752	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12403778	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12406388	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12408302	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12410126	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12410491	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12411172	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12411174	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12728007	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12729289	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12733373	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12733733	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12736406	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12740067	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12740354	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12754116	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12754230	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12758681	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12758819	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12759119	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1466468	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1480101	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1480107	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16844054	0.85[EUR][1000 genomes]
rs16844408	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16844602	0.97[EUR][1000 genomes]
rs1842332	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1847906	0.96[EUR][1000 genomes]
rs1847907	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2035302	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34051059	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34115920	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34248528	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34256167	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34304596	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34305765	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34436845	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34468096	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34517951	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34524645	0.81[EUR][1000 genomes]
rs34530213	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34737903	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34764920	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34766551	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34778535	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34937935	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35150136	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35161243	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35181350	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35352581	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35553993	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35852721	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35948433	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36053633	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4319288	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4623662	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4653413	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4653607	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4653608	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4653610	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4653614	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55680010	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55738724	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55770610	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56280792	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56332582	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57650955	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs583098	0.97[EUR][1000 genomes]
rs584720	0.92[ASN][1000 genomes]
rs585470	0.92[ASN][1000 genomes]
rs585546	0.90[ASN][1000 genomes]
rs590744	0.90[ASN][1000 genomes]
rs59493468	0.86[EUR][1000 genomes]
rs596036	0.90[ASN][1000 genomes]
rs599355	0.90[ASN][1000 genomes]
rs608979	0.90[ASN][1000 genomes]
rs61849836	0.88[EUR][1000 genomes]
rs61851475	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61851476	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61851478	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61851479	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61851481	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61851487	0.92[EUR][1000 genomes]
rs61851489	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61851518	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61851519	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61851520	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs621210	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs622158	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs625391	0.90[ASN][1000 genomes]
rs625428	0.90[ASN][1000 genomes]
rs633994	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs634342	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs634895	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661753	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs662897	0.92[ASN][1000 genomes]
rs6666735	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs669326	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6693785	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs673897	0.90[ASN][1000 genomes]
rs674025	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs675571	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71646708	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72748625	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7536245	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7541259	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555756	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785383	0.90[ASN][1000 genomes]
rs9887766	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9887975	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998899	chr1:225210813-225496353	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv468205	chr1:225304971-225476025	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv549264	chr1:225304971-225476025	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv945672	chr1:225339532-225561349	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv873226	chr1:225347689-225555602	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv832703	chr1:225375953-225520216	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1014968	chr1:225389490-225459008	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
8	nsv1005481	chr1:225389490-225462887	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
9	nsv997904	chr1:225389490-225466637	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1002430	chr1:225389490-225471683	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv2762171	chr1:225390933-225463772	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
12	nsv549265	chr1:225395959-225462346	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
13	esv1805729	chr1:225404951-225526778	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv2757774	chr1:225404951-225526778	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv2759002	chr1:225404951-225526778	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv428312	chr1:225404951-225526778	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225398000-225417800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:225406600-225409400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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