Variant report

Variant	rs756550
Chromosome Location	chr22:33363420-33363421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1010432	0.81[ASN][1000 genomes]
rs13054969	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs13057857	0.83[MEX][hapmap]
rs2016169	0.93[CHD][hapmap];0.89[MEX][hapmap]
rs9609652	0.91[CHD][hapmap];0.89[MEX][hapmap]
rs9609653	0.88[CHD][hapmap];0.83[MEX][hapmap]
rs9609655	0.81[ASN][1000 genomes]
rs9609656	0.88[CHD][hapmap];0.89[MEX][hapmap]
rs9609657	0.81[ASN][1000 genomes]
rs9609663	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9609678	1.00[ASW][hapmap];0.83[CHB][hapmap];0.80[CHD][hapmap];0.86[GIH][hapmap]
rs9609680	0.82[CHB][hapmap]

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	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs756550	GATSL3	cis	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33314000-33380800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:33343200-33372600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr22:33348000-33382400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:33354000-33374000	Weak transcription	Brain Angular Gyrus	brain
5	chr22:33354400-33363800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr22:33354400-33381800	Weak transcription	Fetal Brain Male	brain
7	chr22:33354600-33387400	Weak transcription	Fetal Brain Female	brain
8	chr22:33355000-33363600	Weak transcription	Right Atrium	heart
9	chr22:33359800-33363600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr22:33360000-33363600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr22:33361000-33371400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr22:33361000-33380400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr22:33361200-33363800	Weak transcription	Left Ventricle	heart
14	chr22:33361200-33368400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr22:33361600-33363600	Weak transcription	Brain Hippocampus Middle	brain
16	chr22:33362200-33364400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr22:33362200-33365800	Enhancers	Duodenum Mucosa	Duodenum
18	chr22:33362200-33365800	Enhancers	Fetal Intestine Small	intestine
19	chr22:33362200-33366400	Enhancers	Fetal Intestine Large	intestine
20	chr22:33362400-33363800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr22:33362400-33365800	Enhancers	Liver	Liver
22	chr22:33362600-33363800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr22:33362800-33364600	Enhancers	Fetal Kidney	kidney
24	chr22:33363000-33363800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr22:33363000-33364000	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr22:33363000-33364200	Enhancers	Rectal Smooth Muscle	rectum
27	chr22:33363000-33364400	Enhancers	Fetal Lung	lung
28	chr22:33363000-33364800	Enhancers	Fetal Stomach	stomach
29	chr22:33363200-33363600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr22:33363200-33363800	Weak transcription	Lung	lung
31	chr22:33363200-33364000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr22:33363200-33364000	Flanking Active TSS	HepG2	liver
33	chr22:33363200-33364800	Enhancers	Stomach Smooth Muscle	stomach
34	chr22:33363200-33365800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr22:33363400-33364000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr22:33363400-33364600	Enhancers	Colon Smooth Muscle	Colon
37	chr22:33363400-33365800	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr22:33363400-33365800	Enhancers	Fetal Heart	heart

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