Variant report

Variant	rs11224340
Chromosome Location	chr11:100508599-100508600
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100498644..100501937-chr11:100508407..100511533,3	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10894986	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11224290	0.83[AFR][1000 genomes]
rs11224291	0.83[AFR][1000 genomes]
rs11224292	0.83[AFR][1000 genomes]
rs11224296	0.83[AFR][1000 genomes]
rs11224302	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11224303	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11224304	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11224309	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11224314	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11224331	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11224334	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11224335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11224336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11224347	0.94[ASN][1000 genomes]
rs11224348	0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11224350	0.87[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11224351	0.87[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11224367	1.00[ASW][hapmap]
rs11224368	1.00[ASW][hapmap]
rs11530658	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11600772	0.83[AFR][1000 genomes]
rs11606531	0.83[AFR][1000 genomes]
rs11606890	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12221817	0.82[ASN][1000 genomes]
rs12223916	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12224813	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs646240	1.00[LWK][hapmap]
rs7117419	1.00[ASW][hapmap]
rs717662	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72996108	0.83[AMR][1000 genomes]
rs72996119	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72998145	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs749433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7932493	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs947867	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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
15	nsv556128	chr11:100493995-100513913	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1037743	chr11:100498709-100521043	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11224340	MMP3	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100501800-100512200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:100502000-100509400	Weak transcription	Fetal Kidney	kidney
3	chr11:100502000-100512800	Weak transcription	Gastric	stomach
4	chr11:100502600-100509800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:100504000-100509600	Weak transcription	Brain Substantia Nigra	brain
6	chr11:100504000-100510000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:100504000-100510000	Weak transcription	Brain Germinal Matrix	brain
8	chr11:100504200-100508800	Weak transcription	Fetal Stomach	stomach
9	chr11:100504400-100509600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:100504400-100509600	Weak transcription	HUVEC	blood vessel
11	chr11:100504600-100509600	Weak transcription	Brain Anterior Caudate	brain
12	chr11:100504800-100509800	Weak transcription	Fetal Intestine Large	intestine
13	chr11:100505000-100511200	Enhancers	Placenta	Placenta
14	chr11:100505400-100509400	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:100506000-100509400	Weak transcription	HepG2	liver
16	chr11:100506200-100509400	Weak transcription	Fetal Heart	heart
17	chr11:100506600-100509600	Weak transcription	Stomach Mucosa	stomach
18	chr11:100506600-100509600	Weak transcription	A549	lung
19	chr11:100507000-100509600	Weak transcription	K562	blood
20	chr11:100508000-100508800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:100508000-100508800	Enhancers	Small Intestine	intestine
22	chr11:100508200-100514400	Enhancers	Fetal Lung	lung
23	chr11:100508400-100508800	Enhancers	Fetal Muscle Leg	muscle
24	chr11:100508400-100509000	Enhancers	Fetal Brain Male	brain
25	chr11:100508400-100509000	Enhancers	Ovary	ovary
26	chr11:100508400-100510800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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