Variant report

Variant	rs4968938
Chromosome Location	chr17:66731256-66731257
allele	A/C
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:14)

rs_ID	r²[population]
rs11653164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12449815	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4246425	0.89[ASN][1000 genomes]
rs4283281	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4482354	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4968937	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6501720	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6501724	0.85[ASN][1000 genomes]
rs7225079	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8073942	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9674712	0.92[ASN][1000 genomes]
rs9674999	0.86[ASN][1000 genomes]
rs9891596	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9891830	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66727600-66731400	Enhancers	Ovary	ovary
2	chr17:66728200-66731600	Enhancers	Fetal Heart	heart
3	chr17:66728800-66731600	Enhancers	Adipose Nuclei	Adipose
4	chr17:66728800-66731600	Enhancers	NHDF-Ad	bronchial
5	chr17:66729000-66731400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr17:66729000-66731400	Enhancers	Left Ventricle	heart
7	chr17:66729000-66731400	Enhancers	Right Ventricle	heart
8	chr17:66729000-66732200	Enhancers	Aorta	Aorta
9	chr17:66729000-66734600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr17:66729200-66731600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:66729400-66731400	Enhancers	Fetal Muscle Leg	muscle
12	chr17:66729400-66731400	Enhancers	Right Atrium	heart
13	chr17:66729600-66731400	Enhancers	HSMMtube	muscle
14	chr17:66729800-66731400	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr17:66729800-66733400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr17:66730000-66731400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr17:66730000-66731600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr17:66730000-66731600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr17:66730400-66731400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr17:66730400-66731400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:66730400-66734000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr17:66730600-66731400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
23	chr17:66730600-66731400	Enhancers	Esophagus	oesophagus
24	chr17:66730800-66733000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr17:66730800-66733600	Weak transcription	Fetal Lung	lung
26	chr17:66731000-66732600	Weak transcription	Pancreas	Pancrea
27	chr17:66731000-66736800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:66731200-66731400	Enhancers	Lung	lung
29	chr17:66731200-66734000	Weak transcription	H1 Cell Line	embryonic stem cell

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