Variant report

Variant	rs12567461
Chromosome Location	chr1:225110164-225110165
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224832360..224832914-chr1:225110011..225110793,2	K562	blood:
2	chr1:225108934..225110730-chr1:225115605..225118111,2	K562	blood:
3	chr1:225109346..225111069-chr1:225117045..225118611,2	MCF-7	breast:
4	chr1:225110059..225110580-chr14:54623098..54623598,2	MCF-7	breast:
5	chr1:224831768..224834375-chr1:225108469..225110982,2	K562	blood:
6	chr1:224701102..224702030-chr1:225109484..225110930,7	K562	blood:
7	chr1:225040496..225041292-chr1:225109773..225110403,3	MCF-7	breast:
8	chr1:225102785..225104962-chr1:225108843..225110479,2	K562	blood:
9	chr1:224831986..224832789-chr1:225109802..225110521,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143786	Chromatin interaction
ENSG00000185842	Chromatin interaction

Extended variants
information (count: 197 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:195)

rs_ID	r²[population]
rs10158926	0.84[ASN][1000 genomes]
rs10399841	0.81[ASN][1000 genomes]
rs10495228	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495229	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10495230	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1080260	0.83[ASN][1000 genomes]
rs10915784	0.80[AMR][1000 genomes]
rs1110378	0.84[ASN][1000 genomes]
rs12561993	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12562917	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12563033	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12563857	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12563866	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12564683	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12564768	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12564776	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12565019	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565073	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12565401	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12565439	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12565823	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12565833	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12566396	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12566857	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12566886	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12567069	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12567082	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12567091	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12567334	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12567470	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12567499	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12567812	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12568142	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1482279	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1482280	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1506070	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1506072	0.83[ASN][1000 genomes]
rs1587980	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1600532	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1600865	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16843950	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16843956	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16843988	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16843997	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16844005	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16856396	0.83[ASN][1000 genomes]
rs16856435	0.83[ASN][1000 genomes]
rs16856463	0.83[ASN][1000 genomes]
rs16856829	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16857787	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16858145	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16858216	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16858299	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16858661	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16858758	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16858766	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16858829	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16858831	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16858932	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16858962	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1806563	0.82[ASN][1000 genomes]
rs1905113	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1905114	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1905115	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1905117	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1936629	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1936631	0.84[ASN][1000 genomes]
rs1936635	0.85[ASN][1000 genomes]
rs1961688	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1982707	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2086368	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2101143	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2128267	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2128269	0.85[EUR][1000 genomes]
rs2291227	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2298257	0.83[ASN][1000 genomes]
rs2406097	0.83[ASN][1000 genomes]
rs2406098	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2449257	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2449259	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2449260	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2449269	0.84[ASN][1000 genomes]
rs2449273	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2449274	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2449276	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2449280	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2449292	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2449311	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2449313	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2449315	0.83[ASN][1000 genomes]
rs2449316	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2449320	0.85[ASN][1000 genomes]
rs2449327	0.84[ASN][1000 genomes]
rs2456335	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2456339	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2456340	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2489296	0.84[ASN][1000 genomes]
rs2489300	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2489302	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2489303	0.87[ASN][1000 genomes]
rs2489310	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2489311	0.84[ASN][1000 genomes]
rs2489313	0.84[ASN][1000 genomes]
rs2489322	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2489324	0.85[ASN][1000 genomes]
rs2489325	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2489328	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2489330	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2489332	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2489341	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2489344	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2501061	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2501064	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2501066	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2501068	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2501072	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2501073	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2501078	0.89[ASN][1000 genomes]
rs2501081	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2501082	0.84[ASN][1000 genomes]
rs2501083	0.84[ASN][1000 genomes]
rs2501085	0.84[ASN][1000 genomes]
rs2501087	0.82[ASN][1000 genomes]
rs2501108	0.85[EUR][1000 genomes]
rs2501120	0.83[ASN][1000 genomes]
rs2501125	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2501127	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2501129	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2501130	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2501134	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2501135	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2501140	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2501141	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2501143	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2501147	0.87[ASN][1000 genomes]
rs2501151	0.87[ASN][1000 genomes]
rs2501153	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2501156	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2800234	0.82[ASN][1000 genomes]
rs3101907	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3101908	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3101915	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3101919	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3102114	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3105549	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3105555	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3105570	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3105571	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3105575	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3120985	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3120992	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3128659	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3128663	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3128665	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3128669	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3128670	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4379650	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4587536	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55635719	0.91[ASN][1000 genomes]
rs55668169	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55681905	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55752315	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs55752383	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55754430	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55761817	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55785201	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55786647	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55876129	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55962425	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56061128	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56088704	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56152573	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56203783	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs56237431	0.83[ASN][1000 genomes]
rs56251723	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56275175	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56337810	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57137890	0.84[ASN][1000 genomes]
rs57889280	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59420435	0.84[ASN][1000 genomes]
rs61466304	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61540517	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6426163	0.84[ASN][1000 genomes]
rs6677680	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6697156	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72629701	0.85[ASN][1000 genomes]
rs72629702	0.85[ASN][1000 genomes]
rs729398	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7517625	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7523949	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7531542	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7547639	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9426165	0.82[ASN][1000 genomes]
rs981067	0.85[EUR][1000 genomes]
rs981068	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225108800-225110200	Enhancers	Stomach Mucosa	stomach
2	chr1:225108800-225110400	Enhancers	Fetal Intestine Small	intestine
3	chr1:225109000-225110400	Enhancers	Fetal Intestine Large	intestine
4	chr1:225109800-225110800	Enhancers	Liver	Liver
5	chr1:225110000-225110200	Enhancers	Gastric	stomach
6	chr1:225110000-225110400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:225110000-225110400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:225110000-225110400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:225110000-225110400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:225110000-225110400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:225110000-225110400	Enhancers	Pancreas	Pancrea
12	chr1:225110000-225110400	Enhancers	Dnd41	blood
13	chr1:225110000-225111800	Enhancers	Ovary	ovary

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