Variant report

Variant	rs72792145
Chromosome Location	chr16:83029723-83029724
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1025054	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12148970	0.90[ASN][1000 genomes]
rs16959005	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16959008	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17745108	0.91[EUR][1000 genomes]
rs56387206	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56907994	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58556368	0.82[EUR][1000 genomes]
rs72792118	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72792121	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72792126	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72792134	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72792137	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72792138	0.85[AFR][1000 genomes]
rs72792140	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72792141	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72792142	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72792143	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72792147	0.93[EUR][1000 genomes]
rs72792148	0.93[EUR][1000 genomes]
rs72792149	0.93[EUR][1000 genomes]
rs72792150	0.93[EUR][1000 genomes]
rs72792154	0.91[EUR][1000 genomes]
rs72792155	0.93[EUR][1000 genomes]
rs72792158	0.93[EUR][1000 genomes]
rs72792160	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72792161	0.93[EUR][1000 genomes]
rs72792163	0.93[EUR][1000 genomes]
rs72792164	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72794135	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72794137	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72794139	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72794141	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72794153	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72794156	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7499040	0.83[ASN][1000 genomes]
rs7500702	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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
13	esv3324286	chr16:83028451-83032749	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:83014800-83030400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:83021600-83035200	Weak transcription	Psoas Muscle	Psoas
3	chr16:83021800-83035000	Weak transcription	Aorta	Aorta
4	chr16:83024200-83030400	Enhancers	Fetal Intestine Small	intestine
5	chr16:83024400-83029800	Enhancers	Fetal Intestine Large	intestine
6	chr16:83028800-83029800	Enhancers	Right Ventricle	heart
7	chr16:83028800-83030000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:83029000-83030600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:83029200-83030000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr16:83029200-83030200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr16:83029200-83030200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr16:83029200-83030200	Enhancers	NHEK	skin
13	chr16:83029200-83030400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr16:83029200-83030400	Weak transcription	Left Ventricle	heart
15	chr16:83029200-83030400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr16:83029400-83029800	Active TSS	Duodenum Mucosa	Duodenum
17	chr16:83029400-83029800	Active TSS	Right Atrium	heart
18	chr16:83029400-83029800	Flanking Active TSS	NH-A	brain
19	chr16:83029400-83030000	Active TSS	Adipose Nuclei	Adipose
20	chr16:83029400-83030000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr16:83029400-83030000	Active TSS	NHDF-Ad	bronchial
22	chr16:83029400-83030200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr16:83029400-83030600	Enhancers	HSMMtube	muscle
24	chr16:83029400-83030800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr16:83029600-83029800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr16:83029600-83029800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr16:83029600-83029800	Flanking Active TSS	HSMM	muscle
28	chr16:83029600-83030000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr16:83029600-83030000	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr16:83029600-83030000	Active TSS	HUVEC	blood vessel
31	chr16:83029600-83030200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr16:83029600-83030200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr16:83029600-83030200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr16:83029600-83030200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr16:83029600-83030200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr16:83029600-83030200	Flanking Active TSS	Osteobl	bone
37	chr16:83029600-83030600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:83029600-83030600	Enhancers	HMEC	breast

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