Variant report

Variant	rs11185544
Chromosome Location	chr3:196245603-196245604
allele	C/T
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	SETDB1	chr3:196245320-196246068	U2OS	brain:	n/a	n/a
2	JUN	chr3:196243852-196246433	K562	blood:	n/a	chr3:196246149-196246162

No.	Distal block	Cell Line	Cell type
1	chr3:195970824..195973413-chr3:196244591..196247031,2	K562	blood:
2	chr3:195965714..195968568-chr3:196245176..196247708,2	K562	blood:
3	chr3:195808137..195810508-chr3:196244076..196245932,2	K562	blood:

Variant related genes	Relation type
SMCO1	TF binding region
ENSG00000161217	Chromatin interaction
ENSG00000072274	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11185525	1.00[JPT][hapmap]
rs11706197	0.84[ASN][1000 genomes]
rs11711594	0.95[ASN][1000 genomes]
rs11711952	1.00[ASN][1000 genomes]
rs11714694	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11920455	0.97[ASN][1000 genomes]
rs12489885	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12490276	0.81[ASN][1000 genomes]
rs12494859	0.95[ASN][1000 genomes]
rs12495687	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs1355533	0.93[CHD][hapmap];0.82[GIH][hapmap]
rs2054748	0.84[ASN][1000 genomes]
rs2054749	0.84[ASN][1000 genomes]
rs2054750	0.84[ASN][1000 genomes]
rs2086891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2101285	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2341334	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2341399	0.92[CEU][hapmap];0.93[CHD][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes]
rs28479172	0.84[ASN][1000 genomes]
rs2880030	0.80[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.84[ASN][1000 genomes]
rs3964310	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4488870	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56144237	0.97[ASN][1000 genomes]
rs57365032	0.95[ASN][1000 genomes]
rs60668021	0.84[ASN][1000 genomes]
rs62410583	0.95[ASN][1000 genomes]
rs6583317	0.95[ASN][1000 genomes]
rs6583318	0.95[ASN][1000 genomes]
rs66588136	0.95[ASN][1000 genomes]
rs6765975	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6775794	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6775806	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6778889	0.93[CHD][hapmap]
rs6780633	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6780856	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6799694	0.95[ASN][1000 genomes]
rs6799697	0.87[ASN][1000 genomes]
rs6803397	0.92[ASN][1000 genomes]
rs6803596	0.87[ASN][1000 genomes]
rs6807081	0.89[ASN][1000 genomes]
rs6807097	0.92[ASN][1000 genomes]
rs6810083	0.89[ASN][1000 genomes]
rs73219653	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73219654	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73219660	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7614249	0.86[ASN][1000 genomes]
rs7615547	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7623111	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7623224	0.94[ASN][1000 genomes]
rs7629990	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7651365	0.86[ASN][1000 genomes]
rs9311	0.80[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.84[ASN][1000 genomes]
rs9647412	0.84[ASN][1000 genomes]
rs9647413	0.84[ASN][1000 genomes]
rs9811428	0.89[ASN][1000 genomes]
rs9813420	0.83[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs9814342	0.80[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.84[ASN][1000 genomes]
rs9817377	0.84[CEU][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.84[ASN][1000 genomes]
rs9818507	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9828786	0.80[CEU][hapmap]
rs9831225	0.84[ASN][1000 genomes]
rs9839347	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9839388	0.96[CEU][hapmap]
rs9840938	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9848622	0.96[CEU][hapmap]
rs9849530	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9854347	0.90[ASN][1000 genomes]
rs9858251	0.95[ASN][1000 genomes]
rs9868492	0.84[ASN][1000 genomes]
rs9870613	0.95[ASN][1000 genomes]
rs9880563	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	esv2752687	chr3:196147690-196286690	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
6	nsv1010483	chr3:196210054-196319543	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv536896	chr3:196210054-196319543	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1014692	chr3:196242249-196531824	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
9	esv2763750	chr3:196242261-196278366	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv878187	chr3:196245603-196554790	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196242600-196246400	Enhancers	K562	blood
2	chr3:196244200-196246800	Enhancers	Hela-S3	cervix
3	chr3:196244800-196247600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr3:196245000-196245800	Enhancers	HepG2	liver
5	chr3:196245000-196246800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:196245200-196246000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr3:196245200-196247400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
8	chr3:196245600-196246200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr3:196245600-196246400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
10	chr3:196245600-196246600	ZNF genes & repeats	Brain Substantia Nigra	brain
11	chr3:196245600-196246800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr3:196245600-196247400	ZNF genes & repeats	Liver	Liver
13	chr3:196245600-196247400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
14	chr3:196245600-196247600	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr3:196245600-196247600	ZNF genes & repeats	Duodenum Mucosa	Duodenum

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