Variant report

Variant	rs11150519
Chromosome Location	chr16:82934307-82934308
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11150521	0.89[AMR][1000 genomes]
rs11644647	0.93[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12446000	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12596930	0.82[YRI][hapmap]
rs12598386	0.81[CHB][hapmap];0.84[JPT][hapmap];0.96[MEX][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12933472	0.87[CHB][hapmap];0.83[JPT][hapmap];0.96[MEX][hapmap];0.90[MKK][hapmap];0.87[TSI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1559310	0.93[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16958803	0.93[CEU][hapmap];0.84[GIH][hapmap];0.83[MEX][hapmap];0.92[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35301735	0.82[ASN][1000 genomes]
rs67974511	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7202226	0.81[CHB][hapmap];0.84[JPT][hapmap];0.96[MEX][hapmap];0.90[MKK][hapmap];0.87[TSI][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8044572	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1057341	chr16:82363800-83198907	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv542997	chr16:82363800-83198907	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1063617	chr16:82786803-83229529	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2830385	chr16:82841335-82950413	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv573382	chr16:82905546-82950502	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1064158	chr16:82919690-82935671	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11150519	HSDL1	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82915800-82953000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr16:82926800-82961200	Weak transcription	HSMM	muscle
3	chr16:82932600-82934400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:82933000-82934400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr16:82933000-82934600	Enhancers	HSMMtube	muscle
6	chr16:82933200-82934400	Enhancers	Adipose Nuclei	Adipose
7	chr16:82933200-82934400	Enhancers	Aorta	Aorta
8	chr16:82933200-82934400	Enhancers	Fetal Muscle Leg	muscle
9	chr16:82933200-82934400	Enhancers	Left Ventricle	heart
10	chr16:82933200-82934400	Enhancers	HMEC	breast
11	chr16:82933200-82934600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr16:82933200-82934600	Enhancers	Fetal Stomach	stomach
13	chr16:82933400-82934400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:82933600-82934800	Enhancers	HUVEC	blood vessel
15	chr16:82933600-82940600	Weak transcription	Right Atrium	heart
16	chr16:82933800-82934600	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr16:82933800-82947000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr16:82934000-82947400	Weak transcription	Psoas Muscle	Psoas
19	chr16:82934000-83003400	Weak transcription	NHEK	skin
20	chr16:82934200-82952800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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