Variant report

Variant	rs743407
Chromosome Location	chr22:22093592-22093593
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	MYC	chr22:22093585-22093885	K562	blood:	n/a	chr22:22093753-22093763 chr22:22093753-22093764 chr22:22093753-22093764 chr22:22093752-22093765 chr22:22093753-22093762 chr22:22093749-22093768 chr22:22093754-22093761 chr22:22093754-22093763 chr22:22093752-22093765
2	MAX	chr22:22093172-22094833	K562	blood:	n/a	chr22:22093753-22093763 chr22:22093753-22093764 chr22:22093753-22093764 chr22:22093752-22093765 chr22:22093753-22093762 chr22:22093749-22093768 chr22:22093754-22093761 chr22:22093754-22093763 chr22:22093752-22093765
3	ZNF263	chr22:22093496-22093844	HEK293-T-REx	kidney:	n/a	chr22:22093633-22093642 chr22:22093692-22093701

No.	Distal block	Cell Line	Cell type
1	chr22:22089698..22092001-chr22:22092061..22094877,2	MCF-7	breast:
2	chr22:22093488..22095220-chr22:22221549..22223087,2	K562	blood:
3	chr22:22093571..22096168-chr22:22117600..22119106,2	MCF-7	breast:
4	chr22:22085275..22087984-chr22:22093360..22095685,2	K562	blood:
5	chr22:22091980..22093601-chr22:22220519..22222560,2	MCF-7	breast:
6	chr22:22092924..22094778-chr22:22097040..22099183,2	MCF-7	breast:
7	chr22:22056257..22058152-chr22:22092441..22095055,2	K562	blood:
8	chr22:22019023..22020752-chr22:22089369..22093678,3	K562	blood:
9	chr22:22091591..22094874-chr22:22098707..22104176,4	MCF-7	breast:

Variant related genes	Relation type
YPEL1	TF binding region
ENSG00000100030	Chromatin interaction
ENSG00000100027	Chromatin interaction
ENSG00000100023	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs5994846	0.89[ASN][1000 genomes]
rs5999236	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
2	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
3	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
4	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
5	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
6	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
7	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
8	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv510804	chr22:22024531-22132764	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1066964	chr22:22055123-22228745	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv544604	chr22:22055123-22228745	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv1063134	chr22:22067645-22129322	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv544605	chr22:22067645-22129322	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	esv3423141	chr22:22074283-22135439	Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv1060548	chr22:22079163-22126826	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	nsv531549	chr22:22082380-22116681	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
17	nsv588322	chr22:22086373-22186479	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs743407	VPREB3	cis	parietal	SCAN
rs743407	GNAZ	cis	cerebellum	SCAN
rs743407	DERL3	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22090800-22111000	Weak transcription	Primary T cells from cord blood	blood
2	chr22:22090800-22115800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr22:22091000-22093600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr22:22091000-22095400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr22:22091000-22102800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:22091000-22107600	Weak transcription	Spleen	Spleen
7	chr22:22091000-22110000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr22:22091000-22110800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr22:22091000-22111200	Weak transcription	Pancreas	Pancrea
10	chr22:22091000-22112600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr22:22091000-22116600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr22:22092000-22093600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr22:22092000-22093600	Enhancers	K562	blood
14	chr22:22092000-22108200	Weak transcription	Primary B cells from cord blood	blood
15	chr22:22092200-22093800	Enhancers	Dnd41	blood
16	chr22:22092600-22093600	Enhancers	Thymus	Thymus
17	chr22:22092800-22098000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr22:22092800-22115400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr22:22093200-22093600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
20	chr22:22093200-22093600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr22:22093200-22093600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr22:22093200-22093600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:22093200-22093800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr22:22093200-22093800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
25	chr22:22093200-22093800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
26	chr22:22093200-22093800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr22:22093200-22093800	Enhancers	Fetal Thymus	thymus
28	chr22:22093200-22096000	Strong transcription	Right Atrium	heart
29	chr22:22093400-22093600	Enhancers	H9 Cell Line	embryonic stem cell
30	chr22:22093400-22093600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr22:22093400-22093600	Bivalent Enhancer	HepG2	liver

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