Variant report

Variant	rs72792121
Chromosome Location	chr16:83021368-83021369
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:83014822..83016831-chr16:83020744..83023007,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1025054	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12148970	0.85[ASN][1000 genomes]
rs16959005	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16959008	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17745108	0.89[EUR][1000 genomes]
rs56387206	0.87[EUR][1000 genomes]
rs56907994	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72792118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72792126	0.94[EUR][1000 genomes]
rs72792134	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72792137	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72792140	0.81[ASN][1000 genomes]
rs72792142	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72792145	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72792147	0.81[EUR][1000 genomes]
rs72792148	0.81[EUR][1000 genomes]
rs72792149	0.81[EUR][1000 genomes]
rs72792150	0.81[EUR][1000 genomes]
rs72792155	0.81[EUR][1000 genomes]
rs72792158	0.81[EUR][1000 genomes]
rs72792160	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72792161	0.81[EUR][1000 genomes]
rs72792163	0.81[EUR][1000 genomes]
rs72792164	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72794135	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72794137	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72794139	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72794141	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72794153	0.85[EUR][1000 genomes]
rs72794156	0.85[EUR][1000 genomes]
rs7500702	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv907029	chr16:82951179-83044665	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv907030	chr16:82959437-83044665	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1056005	chr16:82987872-83055420	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1055246	chr16:82988025-83056132	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1064172	chr16:82988932-83046695	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv522570	chr16:82988977-83044665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv573383	chr16:82988977-83044665	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv573384	chr16:82994130-83044665	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82989800-83029600	Weak transcription	HMEC	breast
2	chr16:82995000-83027400	Weak transcription	HSMMtube	muscle
3	chr16:83003800-83021400	Weak transcription	NHEK	skin
4	chr16:83009000-83029400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:83013800-83021400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr16:83014000-83021400	Weak transcription	Aorta	Aorta
7	chr16:83014800-83030400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr16:83015200-83023200	Weak transcription	HUVEC	blood vessel
9	chr16:83017000-83023200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:83017200-83021400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr16:83017800-83028800	Weak transcription	Left Ventricle	heart
12	chr16:83018400-83021400	Weak transcription	Fetal Muscle Leg	muscle
13	chr16:83019600-83029600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr16:83019800-83021400	Weak transcription	NHDF-Ad	bronchial
15	chr16:83021000-83021600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:83021200-83021400	Weak transcription	NH-A	brain
17	chr16:83021200-83021600	Enhancers	Psoas Muscle	Psoas
18	chr16:83021200-83021800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr16:83021200-83023600	Weak transcription	HSMM	muscle

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