Variant report

Variant	rs11224376
Chromosome Location	chr11:100547832-100547833
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100544851..100548714-chr11:100549572..100552377,3	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10160326	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10160408	0.97[ASN][1000 genomes]
rs10160533	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10160586	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10160729	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1021794	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10750592	0.85[CHD][hapmap]
rs10895006	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10895007	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10895008	0.97[ASN][1000 genomes]
rs11224357	0.86[CHD][hapmap]
rs11224367	0.94[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.89[MEX][hapmap];0.90[TSI][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11224368	1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11224369	0.88[ASN][1000 genomes]
rs11224377	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11224378	0.97[ASN][1000 genomes]
rs11224379	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11224380	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11224381	0.94[ASN][1000 genomes]
rs11224382	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11224387	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11224389	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11224390	0.94[CHB][hapmap]
rs12280935	0.88[CHB][hapmap];0.83[ASN][1000 genomes]
rs4754693	0.82[ASN][1000 genomes]
rs6590807	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6590808	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7107791	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7117419	1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7127830	0.94[CEU][hapmap];0.87[CHB][hapmap];0.88[ASN][1000 genomes]
rs73573308	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7929942	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7947643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7952198	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053430	chr11:99888390-100629136	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1042067	chr11:99889697-100629136	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv556122	chr11:99893282-100585889	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1037689	chr11:99895378-100624599	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1040942	chr11:99895378-100629136	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1039852	chr11:99901695-100610533	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv541152	chr11:99901695-100610533	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1045190	chr11:99913193-100627395	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv541153	chr11:99913193-100627395	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv529454	chr11:99913394-100627255	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1043022	chr11:100387466-100610533	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv832246	chr11:100426725-100606957	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11224376	MMP3	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100541400-100551800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:100543600-100552200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:100546000-100548400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:100546200-100550200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:100546400-100548200	Weak transcription	Fetal Lung	lung
6	chr11:100546400-100554800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:100547400-100548600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr11:100547400-100548600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr11:100547400-100548800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr11:100547400-100548800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr11:100547400-100548800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:100547400-100556400	Weak transcription	Placenta	Placenta
13	chr11:100547600-100548000	Enhancers	K562	blood
14	chr11:100547600-100557600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:100547800-100548000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:100547800-100548200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:100547800-100548800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr11:100547800-100549200	Enhancers	HUES64 Cell Line	embryonic stem cell

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