Variant report

Variant	rs1009337
Chromosome Location	chr22:30833372-30833373
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	POLR2A	chr22:30831551-30833654	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30816361..30822733-chr22:30829064..30833429,8	K562	blood:
2	chr22:30827450..30829773-chr22:30832531..30834279,2	K562	blood:

Variant related genes	Relation type
ENSG00000230137	TF binding region
ENSG00000273350	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000272689	Chromatin interaction
ENSG00000222915	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs2007189	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2299830	0.85[MEX][hapmap]
rs4820844	0.85[MEX][hapmap]
rs5753135	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5997645	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs737723	0.95[MEX][hapmap]

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	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1009337	C22orf42	cis	cerebellum	SCAN
rs1009337	SELM	cis	parietal	SCAN
rs1009337	CRYBB1	cis	cerebellum	SCAN
rs1009337	SF3A1	cis	multi-tissue	Pritchard

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30822400-30834400	Weak transcription	Small Intestine	intestine
2	chr22:30823200-30833600	Weak transcription	Stomach Mucosa	stomach
3	chr22:30824400-30839000	Weak transcription	Hela-S3	cervix
4	chr22:30824800-30834400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr22:30831800-30841000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr22:30832000-30834200	Weak transcription	K562	blood
7	chr22:30832000-30841600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr22:30832000-30850000	Weak transcription	Right Atrium	heart
9	chr22:30832200-30833600	Weak transcription	Left Ventricle	heart
10	chr22:30832200-30834400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr22:30832200-30835800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr22:30832200-30852400	Weak transcription	Spleen	Spleen
13	chr22:30832400-30834000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr22:30832400-30834200	Weak transcription	Colonic Mucosa	Colon
15	chr22:30832600-30835400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr22:30832600-30835600	Weak transcription	NHEK	skin
17	chr22:30832600-30835800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr22:30832600-30835800	Weak transcription	Esophagus	oesophagus
19	chr22:30832600-30835800	Weak transcription	HMEC	breast
20	chr22:30832600-30837800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr22:30832800-30835600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr22:30832800-30835800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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