Variant report

Variant	rs2083255
Chromosome Location	chr10:50963054-50963055
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50961582..50965287-chr10:50966138..50970003,4	K562	blood:
2	chr10:50960158..50963082-chr10:50966138..50968051,2	K562	blood:

Variant related genes	Relation type
ENSG00000197444	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11101225	0.95[ASN][1000 genomes]
rs11101226	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2304635	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2304636	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2304637	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2889728	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3750757	0.81[AMR][1000 genomes]
rs3860183	0.89[EUR][1000 genomes]
rs7072121	0.83[EUR][1000 genomes]
rs7073860	0.88[EUR][1000 genomes]
rs7091448	0.88[EUR][1000 genomes]
rs7099245	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs751595	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7893806	0.91[ASN][1000 genomes]
rs7910114	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2083255	OGDHL	cis	Skin Sun Exposed Lower leg	GTEx
rs2083255	OGDHL	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50940600-50966000	Strong transcription	Liver	Liver
2	chr10:50941200-50965400	Weak transcription	Brain Germinal Matrix	brain
3	chr10:50943200-50969400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr10:50944000-50969400	Weak transcription	Brain Substantia Nigra	brain
5	chr10:50951600-50969200	Weak transcription	Fetal Intestine Large	intestine
6	chr10:50952600-50968800	Weak transcription	Pancreas	Pancrea
7	chr10:50953400-50969400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr10:50955000-50967800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr10:50955000-50969000	Weak transcription	Ovary	ovary
10	chr10:50955000-50969400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr10:50955200-50964200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr10:50960000-50964600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr10:50960000-50969200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr10:50960200-50964000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr10:50960400-50964000	Weak transcription	Brain Angular Gyrus	brain
16	chr10:50960400-50965400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr10:50960400-50968000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr10:50960600-50963400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr10:50960600-50964200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr10:50960600-50969400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr10:50960800-50964400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr10:50960800-50964400	Weak transcription	Brain Anterior Caudate	brain
23	chr10:50960800-50968400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr10:50960800-50969200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr10:50961000-50963400	Weak transcription	Fetal Intestine Small	intestine
26	chr10:50961000-50964200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr10:50961000-50968600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr10:50962600-50963600	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr10:50963000-50964200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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