Variant report

Variant	rs58594611
Chromosome Location	chr1:215697893-215697894
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:215697429..215699454-chr19:49467742..49470425,2	K562	blood:
2	chr1:215696600..215699320-chr1:215739621..215741254,2	K562	blood:
3	chr1:215693961..215695654-chr1:215696205..215698619,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000087086	Chromatin interaction
ENSG00000136636	Chromatin interaction

Extended variants
information (count: 173 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:168)

rs_ID	r²[population]
rs10127809	0.88[ASN][1000 genomes]
rs11120588	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120591	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062740	0.81[ASN][1000 genomes]
rs12064396	0.81[ASN][1000 genomes]
rs12066481	0.81[ASN][1000 genomes]
rs12070874	0.81[ASN][1000 genomes]
rs12080428	0.81[ASN][1000 genomes]
rs12084684	0.81[ASN][1000 genomes]
rs12089271	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12093830	0.81[ASN][1000 genomes]
rs13376274	0.81[ASN][1000 genomes]
rs13376355	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1395722	0.81[ASN][1000 genomes]
rs1557172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024732	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17024744	0.88[ASN][1000 genomes]
rs17024755	0.88[ASN][1000 genomes]
rs17024758	0.88[ASN][1000 genomes]
rs1819740	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1876407	0.81[ASN][1000 genomes]
rs1876408	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2677113	0.85[ASN][1000 genomes]
rs2797392	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2885989	0.88[ASN][1000 genomes]
rs35134381	0.88[ASN][1000 genomes]
rs3753837	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3753838	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3767251	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3767252	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3767253	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3767256	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3767258	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3767259	0.96[ASN][1000 genomes]
rs3767260	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3767262	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3845523	0.81[ASN][1000 genomes]
rs41304083	0.89[ASN][1000 genomes]
rs41308435	0.92[ASN][1000 genomes]
rs41315587	0.89[ASN][1000 genomes]
rs4607849	0.88[ASN][1000 genomes]
rs56783105	0.92[ASN][1000 genomes]
rs56802573	0.81[ASN][1000 genomes]
rs56956076	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56957283	0.92[ASN][1000 genomes]
rs57179404	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57309511	0.88[ASN][1000 genomes]
rs57311096	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57379455	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57397989	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57563355	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57628126	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57758604	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57861859	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57935471	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58102262	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58162887	0.92[ASN][1000 genomes]
rs58163611	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58257972	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58330534	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58342290	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58425452	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58542168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58557470	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58597977	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58629829	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58649725	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58682085	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58759277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58836680	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58867901	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58919310	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59015398	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59026507	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59040705	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59192192	0.85[ASN][1000 genomes]
rs59233975	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59319848	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59417960	0.82[AFR][1000 genomes]
rs59577074	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59628625	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59635576	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59636344	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60026262	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60365921	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60404320	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60533889	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60590154	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60620576	0.88[ASN][1000 genomes]
rs61057668	0.81[ASN][1000 genomes]
rs61059263	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61346484	0.82[AFR][1000 genomes]
rs61368758	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61502956	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61522423	0.89[ASN][1000 genomes]
rs61600848	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61618553	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61633090	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61685588	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6540901	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6669520	0.88[AFR][1000 genomes]
rs6673234	0.82[AFR][1000 genomes]
rs6674016	0.81[ASN][1000 genomes]
rs6674311	0.88[AFR][1000 genomes]
rs6676725	1.00[AFR][1000 genomes]
rs6678049	0.81[ASN][1000 genomes]
rs6679048	0.81[ASN][1000 genomes]
rs6686570	0.81[ASN][1000 genomes]
rs6689680	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6700397	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73081443	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73081447	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73081459	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73081470	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73081479	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73081487	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73081497	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083403	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73083410	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083415	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083420	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083421	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083429	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083432	0.91[AFR][1000 genomes]
rs73083436	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083437	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083500	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73085404	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73085410	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73085423	0.88[AFR][1000 genomes]
rs73085425	0.88[AFR][1000 genomes]
rs73085429	0.84[AFR][1000 genomes]
rs73085436	0.84[AFR][1000 genomes]
rs73085441	0.84[AFR][1000 genomes]
rs73085453	0.82[AFR][1000 genomes]
rs73085455	0.82[AFR][1000 genomes]
rs73087423	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73087440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73087444	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73087448	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73087450	0.92[ASN][1000 genomes]
rs73087454	0.92[ASN][1000 genomes]
rs73087457	0.92[ASN][1000 genomes]
rs73087461	0.89[ASN][1000 genomes]
rs73087467	0.89[ASN][1000 genomes]
rs73090166	0.81[ASN][1000 genomes]
rs73090172	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73090177	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73090179	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73091959	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73091984	0.88[ASN][1000 genomes]
rs73091986	0.88[ASN][1000 genomes]
rs73091998	0.88[ASN][1000 genomes]
rs73094106	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73094120	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73094142	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73100105	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100108	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100110	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100116	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100129	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100141	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7522198	0.88[AFR][1000 genomes]
rs7522720	0.84[AFR][1000 genomes]
rs7531580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7545425	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832537	chr1:215509026-215705105	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1796390	chr1:215561548-215799074	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1014266	chr1:215573051-215730838	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv945289	chr1:215680875-215699974	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215696000-215698000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:215696400-215698200	Enhancers	Fetal Intestine Large	intestine
3	chr1:215696600-215698200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:215697000-215698000	Enhancers	NHLF	lung
5	chr1:215697400-215698000	Weak transcription	Fetal Intestine Small	intestine
6	chr1:215697600-215699800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:215697600-215702000	Weak transcription	Fetal Kidney	kidney
8	chr1:215697600-215702200	Weak transcription	NHDF-Ad	bronchial
9	chr1:215697800-215699800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:215697800-215702400	Weak transcription	Muscle Satellite Cultured Cells	--

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