Variant report

Variant	rs73881478
Chromosome Location	chr22:30960413-30960414
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr22:30960030-30960620	SH-SY5Y	brain:	n/a	chr22:30960215-30960224

Variant related genes	Relation type
GAL3ST1	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11912660	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12484511	0.81[EUR][1000 genomes]
rs4820017	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4820879	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73881479	0.84[AFR][1000 genomes]
rs73881482	0.94[AMR][1000 genomes];0.97[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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv588887	chr22:30953521-30995356	Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30939000-30962000	Weak transcription	Liver	Liver
2	chr22:30944800-30968000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr22:30948400-30961800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr22:30950600-30969000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr22:30952600-30961600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr22:30953800-30965200	Weak transcription	Gastric	stomach
7	chr22:30958000-30960600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr22:30958000-30960600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr22:30958000-30960600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:30958000-30960600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr22:30958000-30969600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr22:30958200-30960600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr22:30958200-30960600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr22:30958200-30960600	Strong transcription	Fetal Intestine Small	intestine
15	chr22:30958200-30964000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr22:30958400-30960800	Weak transcription	Fetal Intestine Large	intestine
17	chr22:30958400-30961400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr22:30958800-30961000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr22:30958800-30962200	Weak transcription	Stomach Mucosa	stomach
20	chr22:30959800-30962400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr22:30960000-30960600	Enhancers	Brain Anterior Caudate	brain
22	chr22:30960200-30961000	Enhancers	Spleen	Spleen
23	chr22:30960200-30961200	Enhancers	Brain Germinal Matrix	brain
24	chr22:30960200-30961800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr22:30960200-30962000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr22:30960200-30962000	Enhancers	HepG2	liver
27	chr22:30960200-30962200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr22:30960200-30962200	Enhancers	Brain Cingulate Gyrus	brain
29	chr22:30960200-30962400	Enhancers	Brain Hippocampus Middle	brain
30	chr22:30960200-30962400	Enhancers	Brain Substantia Nigra	brain
31	chr22:30960200-30962600	Enhancers	Brain Angular Gyrus	brain
32	chr22:30960400-30960600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr22:30960400-30960800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr22:30960400-30961000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr22:30960400-30961200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr22:30960400-30961400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr22:30960400-30961400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr22:30960400-30962600	Enhancers	A549	lung

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