Variant report

Variant	rs532543
Chromosome Location	chr9:18727548-18727549
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	chr9:18725510..18728390-chr9:18733590..18735848,2	MCF-7	breast:
2	chr9:18722180..18723810-chr9:18726997..18728852,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2507117	0.82[ASN][1000 genomes]
rs2570568	0.82[ASN][1000 genomes]
rs482009	0.91[JPT][hapmap]
rs487882	0.82[ASN][1000 genomes]
rs502981	0.83[ASN][1000 genomes]
rs507556	0.92[ASN][1000 genomes]
rs518607	0.83[CHD][hapmap]
rs521546	0.82[CHD][hapmap]
rs521911	0.90[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs531847	0.94[ASN][1000 genomes]
rs542826	0.95[ASN][1000 genomes]
rs563805	0.97[ASN][1000 genomes]
rs574090	0.94[ASN][1000 genomes]
rs574151	0.94[ASN][1000 genomes]
rs580568	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1029449	chr9:18414752-18829127	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv540077	chr9:18414752-18829127	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv892691	chr9:18519699-18805483	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv892692	chr9:18519699-19045502	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv831523	chr9:18592398-18753451	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv892694	chr9:18599029-18767830	Enhancers Weak transcription Strong transcription 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	3 gene(s)	inside rSNPs	diseases
11	nsv892697	chr9:18700566-18767830	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs532543	MYL3	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18710400-18756400	Weak transcription	HSMMtube	muscle
2	chr9:18721800-18739800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:18721800-18740200	Strong transcription	Osteobl	bone
4	chr9:18721800-18745800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr9:18723200-18740000	Weak transcription	Aorta	Aorta
6	chr9:18723400-18728600	Weak transcription	NHLF	lung
7	chr9:18723400-18731200	Strong transcription	HSMM	muscle
8	chr9:18723800-18745800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:18724000-18727800	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr9:18726200-18727600	Enhancers	NHDF-Ad	bronchial
11	chr9:18726200-18729600	Enhancers	Fetal Stomach	stomach
12	chr9:18726400-18727600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:18726400-18727600	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr9:18726400-18727600	Enhancers	Fetal Intestine Large	intestine
15	chr9:18726400-18727600	Enhancers	Fetal Muscle Leg	muscle
16	chr9:18726400-18729200	Enhancers	Colon Smooth Muscle	Colon
17	chr9:18726600-18727600	Enhancers	Fetal Kidney	kidney
18	chr9:18726600-18727600	Enhancers	Fetal Lung	lung
19	chr9:18726800-18727600	Enhancers	Fetal Intestine Small	intestine
20	chr9:18727000-18727600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr9:18727000-18729200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:18727000-18730400	Strong transcription	NH-A	brain
23	chr9:18727200-18727600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:18727200-18728200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr9:18727200-18741600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:18727400-18729400	Weak transcription	Fetal Heart	heart

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