Variant report

Variant	rs11224337
Chromosome Location	chr11:100504030-100504031
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	chr11:100483839..100486861-chr11:100501831..100504334,3	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1502282	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7940118	0.81[AMR][1000 genomes];1.00[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
rs11224337	MMP12	cis	parietal	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100501600-100504600	Enhancers	Placenta	Placenta
2	chr11:100501800-100504200	Enhancers	Fetal Stomach	stomach
3	chr11:100501800-100506200	Enhancers	Fetal Heart	heart
4	chr11:100501800-100512200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:100502000-100509400	Weak transcription	Fetal Kidney	kidney
6	chr11:100502000-100512800	Weak transcription	Gastric	stomach
7	chr11:100502200-100505200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:100502400-100505200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:100502600-100509800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:100503000-100504400	Enhancers	Fetal Intestine Small	intestine
11	chr11:100503000-100506600	Enhancers	Stomach Mucosa	stomach
12	chr11:100503200-100504800	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr11:100503400-100504200	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr11:100503400-100504200	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr11:100503400-100504400	Flanking Active TSS	Liver	Liver
16	chr11:100503400-100504400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr11:100503400-100504400	Enhancers	Fetal Muscle Leg	muscle
18	chr11:100503400-100504400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr11:100503400-100504800	Enhancers	Fetal Intestine Large	intestine
20	chr11:100503600-100504200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:100503600-100504200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr11:100503600-100504200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:100503600-100504200	Enhancers	Adipose Nuclei	Adipose
24	chr11:100503600-100504200	Enhancers	Duodenum Mucosa	Duodenum
25	chr11:100503600-100504200	Flanking Active TSS	Fetal Lung	lung
26	chr11:100503600-100504200	Enhancers	Psoas Muscle	Psoas
27	chr11:100503600-100504200	Enhancers	Rectal Smooth Muscle	rectum
28	chr11:100503600-100504200	Enhancers	Right Ventricle	heart
29	chr11:100503600-100504200	Enhancers	HepG2	liver
30	chr11:100503600-100504200	Enhancers	HSMMtube	muscle
31	chr11:100503600-100504400	Enhancers	Brain Hippocampus Middle	brain
32	chr11:100503800-100504200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr11:100503800-100504200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:100503800-100504200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr11:100503800-100504200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr11:100503800-100504200	Enhancers	Colon Smooth Muscle	Colon
37	chr11:100503800-100504200	Enhancers	Esophagus	oesophagus
38	chr11:100503800-100504200	Enhancers	Left Ventricle	heart
39	chr11:100503800-100504200	Flanking Active TSS	Ovary	ovary
40	chr11:100503800-100504200	Enhancers	Pancreas	Pancrea
41	chr11:100503800-100504200	Enhancers	Right Atrium	heart
42	chr11:100503800-100504200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr11:100503800-100504200	Enhancers	A549	lung
44	chr11:100503800-100504400	Enhancers	Fetal Brain Male	brain
45	chr11:100504000-100504200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:100504000-100504200	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr11:100504000-100504200	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr11:100504000-100504400	Enhancers	Colonic Mucosa	Colon
49	chr11:100504000-100504400	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr11:100504000-100504400	Enhancers	Small Intestine	intestine

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