Variant report

Variant	rs1333034
Chromosome Location	chr9:22044122-22044123
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	MAFK	chr9:22043988-22044283	H1-hESC	embryonic stem cell:	n/a	chr9:22044124-22044139
2	MAFK	chr9:22043942-22044316	IMR90	lung:	n/a	chr9:22044124-22044139
3	MAFF	chr9:22043948-22044312	HepG2	liver:	n/a	chr9:22044123-22044141
4	MAFK	chr9:22043951-22044288	HepG2	liver:	n/a	chr9:22044124-22044139
5	MAFK	chr9:22043969-22044300	Hela-S3	cervix:	n/a	chr9:22044124-22044139
6	MAFK	chr9:22043943-22044313	HepG2	liver:	n/a	chr9:22044124-22044139

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:22041859..22044589-chr9:22046205..22047807,2	MCF-7	breast:
2	chr9:22007719..22013279-chr9:22036472..22044819,13	MCF-7	breast:

Variant related genes	Relation type
CDKN2B-AS1	TF binding region
ENSG00000240498	Chromatin interaction
ENSG00000215221	Chromatin interaction
ENSG00000147883	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10757262	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs11515	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs1333035	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs17694493	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17694555	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17694572	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17756311	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2069422	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2069426	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2811709	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap]
rs2811712	1.00[CEU][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs3218018	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.80[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3731201	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs3731246	1.00[CHB][hapmap]
rs598664	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs662463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs974336	1.00[MEX][hapmap];0.86[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv8426	chr9:21763810-22176200	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1018514	chr9:21944275-22075326	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv892747	chr9:21984661-22068646	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv531617	chr9:21985057-22809676	Genic enhancers Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1333034	CDKN2B	cis	Whole Blood	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22040200-22046000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:22041000-22045600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr9:22041000-22046400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr9:22041400-22044600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:22042000-22048000	Weak transcription	Adipose Nuclei	Adipose
6	chr9:22042200-22044800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:22042200-22046600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr9:22042400-22044200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:22042400-22044200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr9:22042400-22044400	Weak transcription	NHLF	lung
11	chr9:22042400-22049200	Weak transcription	Hela-S3	cervix
12	chr9:22042600-22044600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:22042600-22049200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:22042600-22052600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:22042800-22044200	Weak transcription	HSMM	muscle
16	chr9:22042800-22044200	Weak transcription	NHEK	skin
17	chr9:22042800-22046000	Weak transcription	Fetal Intestine Small	intestine
18	chr9:22042800-22046200	Weak transcription	Fetal Intestine Large	intestine
19	chr9:22042800-22049400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:22042800-22052600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr9:22043800-22045800	Enhancers	NH-A	brain
22	chr9:22044000-22045000	Enhancers	HMEC	breast
23	chr9:22044000-22045000	Enhancers	NHDF-Ad	bronchial
24	chr9:22044000-22045200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:22044000-22045200	Enhancers	Osteobl	bone
26	chr9:22044000-22045800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:22044000-22045800	Enhancers	Dnd41	blood
28	chr9:22044000-22046000	Enhancers	HUVEC	blood vessel
29	chr9:22044000-22046200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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