Variant report

Variant	rs649512
Chromosome Location	chr11:100758847-100758848
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10791437	1.00[CHD][hapmap]
rs10791438	1.00[CHD][hapmap]
rs10895031	1.00[CHD][hapmap]
rs11224535	1.00[CHD][hapmap]
rs2155443	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs471180	1.00[CHD][hapmap]
rs481991	1.00[CHD][hapmap]
rs485546	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs488365	0.81[GIH][hapmap]
rs499861	1.00[CHD][hapmap]
rs509013	1.00[CHD][hapmap]
rs509166	1.00[CHD][hapmap]
rs512176	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs514101	1.00[CHD][hapmap]
rs514957	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs520403	1.00[CHD][hapmap]
rs524416	1.00[CHD][hapmap]
rs531078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs536270	1.00[CHD][hapmap]
rs539204	1.00[CHD][hapmap]
rs540000	1.00[CHD][hapmap]
rs545183	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs562891	1.00[CHD][hapmap]
rs576472	0.85[GIH][hapmap]
rs583415	0.85[GIH][hapmap]
rs585183	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs594985	1.00[CHD][hapmap]
rs607392	0.84[EUR][1000 genomes]
rs608920	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs613667	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs614393	0.90[AFR][1000 genomes]
rs614761	0.81[AFR][1000 genomes]
rs618907	1.00[CHD][hapmap]
rs629677	1.00[CHD][hapmap]
rs636528	0.90[AFR][1000 genomes]
rs641341	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs641948	1.00[CHD][hapmap]
rs652559	1.00[CHD][hapmap]
rs653344	1.00[CHD][hapmap]
rs657945	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs662530	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs672160	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs673183	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs694078	1.00[CHD][hapmap]
rs7938783	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048356	chr11:100713096-101058995	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv541154	chr11:100713096-101058995	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs649512	ANGPTL5	cis	cerebellum	SCAN
rs649512	MMP1	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100749400-100759600	Weak transcription	NH-A	brain
2	chr11:100749600-100761200	Weak transcription	HSMM	muscle
3	chr11:100750600-100760800	Weak transcription	NHDF-Ad	bronchial
4	chr11:100751400-100759200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:100752800-100761200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:100754800-100759400	Weak transcription	Fetal Heart	heart
7	chr11:100755000-100766200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:100755400-100760600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:100755800-100760800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:100756000-100760000	Weak transcription	Right Atrium	heart
11	chr11:100757000-100759000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:100758200-100760400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:100758400-100798400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:100758600-100760000	Weak transcription	Right Ventricle	heart
15	chr11:100758600-100760600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:100758600-100773400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:100758600-100795200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr11:100758800-100789400	Weak transcription	Fetal Muscle Leg	muscle
19	chr11:100758800-100791200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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