Variant report

Variant	rs7550744
Chromosome Location	chr1:45994301-45994302
allele	A/G
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	SPI1	chr1:45994209-45994331	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:45980210..45995142-chr1:46046095..46057139,89	K562	blood:
2	chr1:45974558..45995867-chr1:46046173..46057010,94	K562	blood:
3	chr1:45993856..45997631-chr1:46016442..46019336,3	K562	blood:

Variant related genes	Relation type
HMGB1P48	TF binding region
ENSG00000132780	Chromatin interaction
ENSG00000117448	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs11211125	1.00[EUR][1000 genomes]
rs11211127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11211144	1.00[AMR][1000 genomes]
rs11211148	1.00[AMR][1000 genomes]
rs11211153	1.00[AMR][1000 genomes]
rs11211154	1.00[AMR][1000 genomes]
rs11211155	1.00[AMR][1000 genomes]
rs11211156	1.00[AMR][1000 genomes]
rs11211167	1.00[AMR][1000 genomes]
rs12057167	1.00[AMR][1000 genomes]
rs12060056	1.00[AMR][1000 genomes]
rs12061890	1.00[AMR][1000 genomes]
rs12063380	1.00[AMR][1000 genomes]
rs12064908	1.00[AMR][1000 genomes]
rs12065695	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12066809	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12067882	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12070146	1.00[AMR][1000 genomes]
rs12070177	1.00[AMR][1000 genomes]
rs12070890	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073045	1.00[AMR][1000 genomes]
rs12073047	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12073132	1.00[AMR][1000 genomes]
rs12077112	1.00[AMR][1000 genomes]
rs12080482	1.00[AMR][1000 genomes]
rs12081121	1.00[AMR][1000 genomes]
rs12082672	1.00[AMR][1000 genomes]
rs12083690	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12085372	1.00[AMR][1000 genomes]
rs12086880	1.00[AMR][1000 genomes]
rs12088810	1.00[AMR][1000 genomes]
rs12091335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12091360	1.00[AMR][1000 genomes]
rs12093444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12094011	1.00[AMR][1000 genomes]
rs12097914	1.00[AMR][1000 genomes]
rs12565230	1.00[EUR][1000 genomes]
rs16832540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16832545	1.00[EUR][1000 genomes]
rs16832550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16832553	1.00[AMR][1000 genomes]
rs16832557	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16832559	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1691225	1.00[AMR][1000 genomes]
rs1691226	1.00[AMR][1000 genomes]
rs1691227	1.00[AMR][1000 genomes]
rs1762087	1.00[AMR][1000 genomes]
rs1855621	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2782489	1.00[AMR][1000 genomes]
rs28532613	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28548585	1.00[AMR][1000 genomes]
rs28576912	1.00[AMR][1000 genomes]
rs28607905	1.00[AMR][1000 genomes]
rs28674795	1.00[ASN][1000 genomes]
rs2934860	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2934861	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2934863	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2934864	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2991965	1.00[ASN][1000 genomes]
rs2991967	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2991969	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2991984	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2993256	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2993260	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2993261	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3014222	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3014223	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3014224	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3014226	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35067820	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35103566	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35808563	1.00[AMR][1000 genomes]
rs36053912	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs486346	1.00[AMR][1000 genomes]
rs505175	1.00[AMR][1000 genomes]
rs506094	1.00[AMR][1000 genomes]
rs525706	1.00[AMR][1000 genomes]
rs57910611	1.00[EUR][1000 genomes]
rs59050426	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60347972	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60660559	1.00[EUR][1000 genomes]
rs622296	1.00[AMR][1000 genomes]
rs635446	1.00[AMR][1000 genomes]
rs665014	1.00[AMR][1000 genomes]
rs6664588	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6671347	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6677135	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs668289	1.00[AMR][1000 genomes]
rs669417	1.00[AMR][1000 genomes]
rs6699702	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680267	1.00[AMR][1000 genomes]
rs72478602	1.00[ASN][1000 genomes]
rs72896187	1.00[EUR][1000 genomes]
rs72898313	1.00[EUR][1000 genomes]
rs72898315	1.00[EUR][1000 genomes]
rs72898320	1.00[EUR][1000 genomes]
rs72898323	1.00[EUR][1000 genomes]
rs72900311	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7412911	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536559	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429080	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429083	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429164	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429165	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	esv1795802	chr1:45819489-46009818	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	esv1831217	chr1:45819489-46009818	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
4	nsv530016	chr1:45868543-46069020	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
5	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
6	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
7	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
8	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45988400-45997200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr1:45989200-46000600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:45992800-45998600	Weak transcription	HepG2	liver
4	chr1:45992800-46002400	Weak transcription	Fetal Intestine Small	intestine
5	chr1:45993200-45994800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:45994000-45994400	Weak transcription	Placenta	Placenta

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