Variant report

Variant	rs368076
Chromosome Location	chr1:153046514-153046515
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr1:153045339-153046558	PBDE	blood:	n/a	chr1:153045389-153045399 chr1:153046361-153046371 chr1:153045830-153045841 chr1:153045390-153045397 chr1:153045390-153045399

Variant related genes	Relation type
SPRR2B	TF binding region

Extended variants
information (count: 201 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:190)

rs_ID	r²[population]
rs1015995	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1015996	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10399896	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1048296	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10494285	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1055935	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10788852	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10788853	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10788854	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10788855	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10788856	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10788857	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10888523	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10888524	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10888525	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10888526	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10888527	0.90[ASN][1000 genomes]
rs11205164	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11205165	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11205166	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11205167	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11205172	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11205174	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11205175	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11205176	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11205177	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1134220	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12029168	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12085426	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12195	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1284688	0.88[AMR][1000 genomes]
rs1334848	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1334849	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1334850	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1338178	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1338180	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1338181	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1415959	0.82[ASN][1000 genomes]
rs1415960	0.82[ASN][1000 genomes]
rs1415961	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1415965	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1415966	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1415969	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1591736	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1750309	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1890285	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1933381	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1933382	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1970328	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2070963	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2070964	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2075739	0.82[ASN][1000 genomes]
rs2152993	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2152994	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2339489	0.84[ASN][1000 genomes]
rs2339490	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2339491	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2339492	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2339493	0.82[ASN][1000 genomes]
rs2339494	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2339495	0.82[ASN][1000 genomes]
rs2651413	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2711	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2787629	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2879487	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2879488	0.82[ASN][1000 genomes]
rs310102	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310103	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs310105	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs310107	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs310109	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs310110	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs310114	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs310122	0.80[ASN][1000 genomes]
rs310124	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs310126	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3120744	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3181787	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs368912	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs370162	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs372490	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3737867	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3753454	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs377768	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3795381	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3795382	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3806221	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3806222	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3806223	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3820141	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs382653	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs394859	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3964619	0.80[AMR][1000 genomes]
rs399550	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs402153	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4041401	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs406350	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs407103	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs407448	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs409986	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs418550	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs419721	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs423692	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4240868	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs426147	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs426360	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs427470	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs431242	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4314835	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4319267	0.80[AMR][1000 genomes]
rs4323653	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs435633	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4363385	0.88[ASN][1000 genomes]
rs436621	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4388644	0.83[ASN][1000 genomes]
rs440598	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs441229	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4452994	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4478766	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs451939	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs454186	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs454245	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs454993	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4576617	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs472076	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4845329	0.82[ASN][1000 genomes]
rs4845331	0.85[ASN][1000 genomes]
rs4845332	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4845333	0.85[ASN][1000 genomes]
rs4845334	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4845335	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4845336	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4845509	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4845511	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4845512	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4845514	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4845515	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4845518	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4845519	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4845522	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs489323	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs490553	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs512198	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs529077	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs532743	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs532773	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs546666	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs557553	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs558363	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs559236	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs561143	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs572821	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs574649	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs576941	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581447	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs582345	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs608509	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61811862	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61811863	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs653332	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6587717	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6587719	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs662506	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661791	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6671414	0.82[ASN][1000 genomes]
rs6671524	0.82[ASN][1000 genomes]
rs6672735	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6679201	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6680624	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6684188	0.82[ASN][1000 genomes]
rs6685731	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6698820	0.81[ASN][1000 genomes]
rs678960	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs679378	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs682472	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs682473	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs684305	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs689008	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71582278	0.83[ASN][1000 genomes]
rs7417180	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs821755	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs885096	0.80[AMR][1000 genomes]
rs946095	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs946096	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs946097	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs946098	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs946100	0.80[AMR][1000 genomes]
rs9659389	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9919276	0.81[AMR][1000 genomes]
rs9919333	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013433	chr1:152619305-153262215	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv535170	chr1:152619305-153262215	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1001834	chr1:152648853-153279143	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
4	nsv547899	chr1:152672005-153245082	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
6	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
7	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv464017	chr1:153033406-153099345	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv547920	chr1:153033406-153099345	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv946395	chr1:153042430-153069958	Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3334814	chr1:153044548-153067651	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 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	chr1:153032200-153053400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:153046400-153046800	Enhancers	K562	blood

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