Variant report

Variant	rs42932
Chromosome Location	chr22:30961048-30961049
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	POLR2A	chr22:30961010-30961086	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr22:30960686-30961081	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
GAL3ST1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4149487	0.82[ASN][1000 genomes]
rs4149488	0.92[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs42931	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap]
rs42938	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs42939	0.89[EUR][1000 genomes]
rs42941	0.84[CEU][hapmap];0.81[JPT][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5997685	0.81[EUR][1000 genomes];0.85[ASN][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:36 , 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	chr22:30958400-30961400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr22:30958800-30962200	Weak transcription	Stomach Mucosa	stomach
11	chr22:30959800-30962400	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr22:30960200-30961200	Enhancers	Brain Germinal Matrix	brain
13	chr22:30960200-30961800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr22:30960200-30962000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr22:30960200-30962000	Enhancers	HepG2	liver
16	chr22:30960200-30962200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr22:30960200-30962200	Enhancers	Brain Cingulate Gyrus	brain
18	chr22:30960200-30962400	Enhancers	Brain Hippocampus Middle	brain
19	chr22:30960200-30962400	Enhancers	Brain Substantia Nigra	brain
20	chr22:30960200-30962600	Enhancers	Brain Angular Gyrus	brain
21	chr22:30960400-30961200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr22:30960400-30961400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr22:30960400-30961400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr22:30960400-30962600	Enhancers	A549	lung
25	chr22:30960600-30961200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr22:30960600-30961200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr22:30960600-30961800	Genic enhancers	Fetal Intestine Small	intestine
28	chr22:30960800-30963200	Enhancers	Fetal Intestine Large	intestine
29	chr22:30960800-30969800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr22:30961000-30961200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
31	chr22:30961000-30961200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr22:30961000-30962200	Enhancers	Brain Anterior Caudate	brain
33	chr22:30961000-30962400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr22:30961000-30962600	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr22:30961000-30967200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr22:30961000-30967800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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