Variant report

Variant	rs11644647
Chromosome Location	chr16:82911933-82911934
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11150512	0.80[CEU][hapmap];0.81[AFR][1000 genomes]
rs11150519	0.93[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11150521	0.81[AMR][1000 genomes]
rs11645687	0.81[JPT][hapmap]
rs12446000	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12598386	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12933472	0.88[AMR][1000 genomes]
rs1559310	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16958803	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60761157	0.84[AFR][1000 genomes]
rs67974511	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7202226	0.90[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	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82886200-82917000	Weak transcription	Right Ventricle	heart
2	chr16:82905600-82921000	Weak transcription	Fetal Muscle Leg	muscle
3	chr16:82905800-82924800	Weak transcription	HSMM	muscle
4	chr16:82905800-82925200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:82908600-82912400	Weak transcription	Colon Smooth Muscle	Colon
6	chr16:82908800-82912200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr16:82908800-82912200	Weak transcription	Psoas Muscle	Psoas
8	chr16:82908800-82914000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr16:82908800-82915000	Weak transcription	Left Ventricle	heart
10	chr16:82908800-82915000	Weak transcription	Right Atrium	heart
11	chr16:82908800-82922000	Weak transcription	Aorta	Aorta
12	chr16:82909000-82915000	Weak transcription	Fetal Brain Male	brain
13	chr16:82909400-82915200	Weak transcription	HUVEC	blood vessel
14	chr16:82909800-82921600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:82910400-82932600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr16:82910800-82913000	Enhancers	Rectal Smooth Muscle	rectum
17	chr16:82911000-82921800	Weak transcription	HSMMtube	muscle
18	chr16:82911800-82912000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr16:82911800-82913000	Enhancers	Stomach Smooth Muscle	stomach
20	chr16:82911800-82915000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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