Variant report

Variant	rs55752383
Chromosome Location	chr1:225133901-225133902
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225117389..225119047-chr1:225133436..225135148,2	K562	blood:
2	chr1:225133403..225135871-chr1:225146349..225149223,2	K562	blood:
3	chr1:225133516..225138195-chr1:225140002..225143763,5	K562	blood:

Variant related genes	Relation type
ENSG00000185842	Chromatin interaction

Extended variants
information (count: 135 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs10495228	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10495229	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10495230	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1080260	0.84[ASN][1000 genomes]
rs12561993	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12562917	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12563033	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12563857	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12563866	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12564683	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12564768	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12564776	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12565019	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12565073	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12565439	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12565823	0.80[AMR][1000 genomes]
rs12565833	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12566396	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12566857	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12566886	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12567069	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12567082	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12567091	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12567334	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12567461	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12567470	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12567499	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12567812	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12568142	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1482279	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1482280	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1506070	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1587980	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1600865	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16843988	0.80[AMR][1000 genomes]
rs16856829	0.82[ASN][1000 genomes]
rs16857787	0.88[ASN][1000 genomes]
rs16858145	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16858216	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16858299	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16858661	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16858758	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16858766	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16858829	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16858831	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16858932	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16858962	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1905113	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1905114	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1905115	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1905117	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1936629	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1961688	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1982707	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2101143	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2128267	0.80[AMR][1000 genomes]
rs2291227	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2406098	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2449257	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2449259	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2449260	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2449273	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2449274	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2449276	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2449280	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2449292	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2449311	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2449313	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2449316	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2449320	0.83[ASN][1000 genomes]
rs2456335	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2456339	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2456340	0.84[ASN][1000 genomes]
rs2489300	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2489302	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2489303	0.83[ASN][1000 genomes]
rs2489310	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2489322	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2489325	0.87[EUR][1000 genomes]
rs2489328	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2489330	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2489332	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2489341	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2489344	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2501061	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2501064	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2501066	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2501068	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2501072	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2501073	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2501078	0.84[ASN][1000 genomes]
rs2501081	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2501125	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2501127	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2501129	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2501130	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2501134	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2501135	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2501140	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2501141	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2501143	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2501147	0.81[ASN][1000 genomes]
rs2501151	0.81[ASN][1000 genomes]
rs2501153	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2501156	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4379650	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4587536	0.83[ASN][1000 genomes]
rs55635719	0.82[ASN][1000 genomes]
rs55668169	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55752315	0.82[ASN][1000 genomes]
rs55754430	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55761817	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55785201	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs55786647	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55869851	0.81[AMR][1000 genomes]
rs55876129	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55962425	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56088704	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56152573	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56203783	0.87[ASN][1000 genomes]
rs56251723	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs56275175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56337810	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs57889280	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61466304	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6677680	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6697156	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs729398	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7523949	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7531542	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs981068	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757773	chr1:225087924-225253274	Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv2759001	chr1:225087924-225253274	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1005824	chr1:225114654-225158871	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv3438976	chr1:225133567-225248753	Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225133400-225134000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:225133400-225134000	ZNF genes & repeats	Fetal Intestine Small	intestine
3	chr1:225133400-225134200	ZNF genes & repeats	Pancreas	Pancrea
4	chr1:225133400-225134400	Active TSS	HepG2	liver
5	chr1:225133600-225156200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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