Variant report

Variant	rs73590396
Chromosome Location	chr16:82922677-82922678
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs72805977	1.00[EUR][1000 genomes]
rs72805981	1.00[EUR][1000 genomes]
rs72806002	1.00[EUR][1000 genomes]
rs73590343	0.91[AFR][1000 genomes]
rs73590359	0.91[AFR][1000 genomes]
rs73590376	0.91[AFR][1000 genomes]
rs73592316	1.00[AFR][1000 genomes]
rs74029042	1.00[EUR][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	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
8	nsv1064158	chr16:82919690-82935671	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82905800-82924800	Weak transcription	HSMM	muscle
2	chr16:82905800-82925200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:82910400-82932600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:82915800-82953000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr16:82918800-82933400	Weak transcription	NHEK	skin
6	chr16:82920800-82922800	Enhancers	Fetal Stomach	stomach
7	chr16:82921600-82923000	Enhancers	Colon Smooth Muscle	Colon
8	chr16:82921800-82923200	Enhancers	Fetal Intestine Large	intestine
9	chr16:82921800-82923200	Enhancers	Fetal Intestine Small	intestine
10	chr16:82922000-82923000	Enhancers	Fetal Lung	lung
11	chr16:82922200-82922800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr16:82922200-82923000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:82922200-82924400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr16:82922400-82922800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr16:82922400-82922800	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr16:82922400-82924800	Weak transcription	Psoas Muscle	Psoas
17	chr16:82922400-82925000	Weak transcription	HSMMtube	muscle
18	chr16:82922400-82925200	Weak transcription	Right Ventricle	heart
19	chr16:82922400-82925800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr16:82922600-82922800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr16:82922600-82922800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr16:82922600-82922800	Enhancers	Osteobl	bone
23	chr16:82922600-82925000	Weak transcription	Aorta	Aorta
24	chr16:82922600-82925000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr16:82922600-82925000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr16:82922600-82925200	Weak transcription	Right Atrium	heart
27	chr16:82922600-82925800	Weak transcription	NH-A	brain
28	chr16:82922600-82933200	Weak transcription	Fetal Muscle Leg	muscle
29	chr16:82922600-82933200	Weak transcription	Left Ventricle	heart

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