Variant report

Variant	rs73881479
Chromosome Location	chr22:30961552-30961553
allele	C/T
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	RCOR1	chr22:30961382-30961581	K562	blood:	n/a	n/a
2	POLR2A	chr22:30961480-30961561	HepG2	liver:	n/a	n/a
3	GATA3	chr22:30961150-30961807	SK-N-SH	brain:	n/a	chr22:30961563-30961573
4	GATA3	chr22:30961116-30961920	SK-N-SH	brain:	n/a	chr22:30961563-30961573

Variant related genes	Relation type
GAL3ST1	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4820867	0.83[AMR][1000 genomes]
rs73394283	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73881478	0.84[AFR][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:34 , 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	chr22:30958000-30969600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr22:30958200-30964000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr22:30958800-30962200	Weak transcription	Stomach Mucosa	stomach
10	chr22:30959800-30962400	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr22:30960200-30961800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr22:30960200-30962000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:30960200-30962000	Enhancers	HepG2	liver
14	chr22:30960200-30962200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr22:30960200-30962200	Enhancers	Brain Cingulate Gyrus	brain
16	chr22:30960200-30962400	Enhancers	Brain Hippocampus Middle	brain
17	chr22:30960200-30962400	Enhancers	Brain Substantia Nigra	brain
18	chr22:30960200-30962600	Enhancers	Brain Angular Gyrus	brain
19	chr22:30960400-30962600	Enhancers	A549	lung
20	chr22:30960600-30961800	Genic enhancers	Fetal Intestine Small	intestine
21	chr22:30960800-30963200	Enhancers	Fetal Intestine Large	intestine
22	chr22:30960800-30969800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr22:30961000-30962200	Enhancers	Brain Anterior Caudate	brain
24	chr22:30961000-30962400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr22:30961000-30962600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr22:30961000-30967200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr22:30961000-30967800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr22:30961200-30961800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr22:30961200-30964000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr22:30961200-30964200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr22:30961200-30964600	Weak transcription	Brain Germinal Matrix	brain
32	chr22:30961400-30961800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr22:30961400-30962400	Enhancers	Duodenum Mucosa	Duodenum
34	chr22:30961400-30969400	Weak transcription	H1 Cell Line	embryonic stem cell

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