Variant report

Variant	rs72795759
Chromosome Location	chr10:50941997-50941998
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1258211	1.00[ASN][1000 genomes]
rs1258230	1.00[ASN][1000 genomes]
rs1258240	1.00[ASN][1000 genomes]
rs1258244	1.00[ASN][1000 genomes]
rs1258248	1.00[ASN][1000 genomes]
rs1258254	1.00[ASN][1000 genomes]
rs1258257	1.00[ASN][1000 genomes]
rs1258259	1.00[ASN][1000 genomes]
rs1258325	0.80[ASN][1000 genomes]
rs1258327	0.80[ASN][1000 genomes]
rs1258328	0.80[ASN][1000 genomes]
rs55815164	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55948938	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72795748	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72795763	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72795764	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72795765	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv895378	chr10:50801342-50955649	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1048905	chr10:50928727-51019190	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50934800-50944000	Weak transcription	Brain Angular Gyrus	brain
2	chr10:50935200-50943000	Weak transcription	Brain Anterior Caudate	brain
3	chr10:50935200-50949600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:50935400-50943600	Weak transcription	Fetal Brain Female	brain
5	chr10:50939000-50944200	Weak transcription	Pancreas	Pancrea
6	chr10:50939400-50943600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr10:50940000-50942800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr10:50940200-50943200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr10:50940400-50949600	Weak transcription	Fetal Heart	heart
10	chr10:50940400-50953400	Weak transcription	Brain Hippocampus Middle	brain
11	chr10:50940600-50966000	Strong transcription	Liver	Liver
12	chr10:50941000-50942800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr10:50941000-50946400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr10:50941000-50951600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr10:50941200-50943000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr10:50941200-50943800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr10:50941200-50945000	Weak transcription	Spleen	Spleen
18	chr10:50941200-50965400	Weak transcription	Brain Germinal Matrix	brain
19	chr10:50941400-50942000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr10:50941400-50942800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:50941400-50942800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:50941600-50943200	Weak transcription	Ovary	ovary
23	chr10:50941600-50943400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr10:50941600-50943400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr10:50941800-50943400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr10:50941800-50943400	Weak transcription	Brain Substantia Nigra	brain
27	chr10:50941800-50943600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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