Variant report

Variant	rs12534075
Chromosome Location	chr7:120920827-120920828
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	chr7:120590905..120593463-chr7:120920550..120923194,2	K562	blood:

Variant related genes	Relation type
ENSG00000071243	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10241888	0.84[ASW][hapmap];0.83[CEU][hapmap];0.95[CHB][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.86[YRI][hapmap];0.90[ASN][1000 genomes]
rs10276111	0.83[CEU][hapmap];1.00[CHB][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.90[ASN][1000 genomes]
rs10276127	0.90[ASN][1000 genomes]
rs10277699	0.87[ASN][1000 genomes]
rs2952556	0.83[CEU][hapmap]
rs34155977	0.87[ASN][1000 genomes]
rs35883000	0.87[ASN][1000 genomes]
rs6952851	0.83[CEU][hapmap]
rs6961083	0.82[CEU][hapmap]
rs7794940	0.91[ASN][1000 genomes]
rs7795061	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs798906	0.83[CEU][hapmap]
rs798907	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
2	nsv427802	chr7:120749159-120935856	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1027619	chr7:120906437-120976630	Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	esv2757237	chr7:120908459-120993326	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	esv2759558	chr7:120908459-120993326	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12534075	LMOD2	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120872600-120936600	Weak transcription	Psoas Muscle	Psoas
2	chr7:120888800-120937800	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:120895800-120923800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:120909000-120923600	Weak transcription	Fetal Stomach	stomach
5	chr7:120909000-120923600	Weak transcription	Right Ventricle	heart
6	chr7:120909000-120933000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:120909200-120923400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:120910200-120923600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:120910200-120930000	Weak transcription	Fetal Lung	lung
10	chr7:120910200-120933200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:120913000-120923600	Weak transcription	Aorta	Aorta
12	chr7:120914400-120922800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:120917400-120921000	Strong transcription	Ovary	ovary
14	chr7:120917600-120924000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr7:120918200-120921400	Enhancers	NHDF-Ad	bronchial
16	chr7:120918600-120921800	Strong transcription	K562	blood
17	chr7:120919000-120921800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr7:120919400-120924400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:120919800-120921600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:120919800-120921600	Enhancers	Osteobl	bone
21	chr7:120919800-120923600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:120920000-120921600	Enhancers	GM12878-XiMat	blood
23	chr7:120920000-120922000	Weak transcription	NHLF	lung
24	chr7:120920200-120921400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:120920200-120923200	Strong transcription	Adipose Nuclei	Adipose
26	chr7:120920400-120922200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:120920400-120927600	Strong transcription	Liver	Liver
28	chr7:120920600-120922200	Weak transcription	Left Ventricle	heart
29	chr7:120920600-120923600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:120920600-120923600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:120920600-120923600	Strong transcription	HSMM	muscle
32	chr7:120920600-120924800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:120920600-120935400	Weak transcription	HSMMtube	muscle

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