Variant report

Variant	rs4968990
Chromosome Location	chr17:67037593-67037594
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1055448	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10852783	0.82[EUR][1000 genomes]
rs11077910	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11650025	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1860447	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1860448	0.86[EUR][1000 genomes]
rs2041320	0.86[EUR][1000 genomes]
rs2364312	0.92[EUR][1000 genomes]
rs2364314	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4968831	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4968989	0.86[EUR][1000 genomes]
rs4968994	0.84[EUR][1000 genomes]
rs6501957	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7212490	0.84[EUR][1000 genomes]
rs732010	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9284343	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9902504	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67000200-67044200	Weak transcription	Right Ventricle	heart
2	chr17:67007600-67042200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr17:67008400-67044000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr17:67009200-67043200	Weak transcription	Pancreas	Pancrea
5	chr17:67009400-67044000	Weak transcription	Colon Smooth Muscle	Colon
6	chr17:67010400-67041200	Weak transcription	NHDF-Ad	bronchial
7	chr17:67011600-67039200	Weak transcription	Left Ventricle	heart
8	chr17:67014000-67044200	Weak transcription	Psoas Muscle	Psoas
9	chr17:67024000-67039200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr17:67024200-67043200	Weak transcription	Fetal Lung	lung
11	chr17:67027800-67039200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr17:67028200-67038200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr17:67028600-67038000	Weak transcription	Liver	Liver
14	chr17:67029200-67038800	Weak transcription	Ovary	ovary
15	chr17:67032000-67038800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr17:67032200-67038600	Weak transcription	Adipose Nuclei	Adipose
17	chr17:67033800-67038000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:67034000-67038200	Weak transcription	Fetal Muscle Leg	muscle
19	chr17:67035200-67042000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr17:67036600-67039200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr17:67036600-67042400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr17:67036800-67043200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr17:67037200-67038600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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