Variant report

Variant	rs2549140
Chromosome Location	chr16:82869732-82869733
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs188257	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2549138	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615129	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs286665	0.88[AMR][1000 genomes]
rs286669	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv573379	chr16:82713551-82887631	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	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
7	nsv907027	chr16:82830121-82871350	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82833000-82873600	Weak transcription	HMEC	breast
2	chr16:82848200-82898200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:82856800-82876200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:82863200-82892800	Weak transcription	HSMMtube	muscle
5	chr16:82864000-82869800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr16:82865000-82870200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr16:82866600-82869800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr16:82866800-82869800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr16:82866800-82878600	Weak transcription	Aorta	Aorta
10	chr16:82867200-82869800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr16:82867200-82870200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr16:82867400-82872200	Weak transcription	Psoas Muscle	Psoas
13	chr16:82867400-82874600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr16:82868200-82878200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr16:82868400-82874600	Weak transcription	Left Ventricle	heart
16	chr16:82868400-82876000	Weak transcription	HSMM	muscle
17	chr16:82868400-82878800	Weak transcription	Right Atrium	heart
18	chr16:82868800-82869800	Enhancers	NHEK	skin
19	chr16:82869000-82869800	Enhancers	NHDF-Ad	bronchial
20	chr16:82869200-82872000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr16:82869400-82878800	Weak transcription	Right Ventricle	heart
22	chr16:82869600-82880000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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