Variant report

Variant	rs72654222
Chromosome Location	chr9:22111450-22111451
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	GATA3	chr9:22111272-22112419	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:21801492..21803940-chr9:22108985..22111697,3	MCF-7	breast:
2	chr9:22106343..22112134-chr9:22114356..22121456,14	MCF-7	breast:
3	chr9:22003003..22006002-chr9:22110995..22113643,2	MCF-7	breast:
4	chr9:22106401..22111630-chr9:22133940..22138604,9	MCF-7	breast:

Variant related genes	Relation type
CDKN2B-AS1	TF binding region
ENSG00000099810	Chromatin interaction
ENSG00000264545	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10217720	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16905635	1.00[AMR][1000 genomes]
rs16905644	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66735603	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72654246	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72654298	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73448370	0.91[AMR][1000 genomes]
rs7855190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7869527	1.00[EUR][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	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	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

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22097800-22122400	Weak transcription	Dnd41	blood
2	chr9:22104600-22116600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr9:22105800-22114000	Weak transcription	Colonic Mucosa	Colon
4	chr9:22105800-22117400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr9:22106600-22117600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:22107600-22116800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:22107600-22117200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:22107800-22111800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:22107800-22112000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:22107800-22112200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:22107800-22113200	Weak transcription	HepG2	liver
12	chr9:22108000-22111800	Weak transcription	HMEC	breast
13	chr9:22108600-22111800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:22109000-22117600	Weak transcription	Adipose Nuclei	Adipose
15	chr9:22109800-22112200	Weak transcription	Fetal Intestine Large	intestine
16	chr9:22109800-22112200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr9:22110000-22112800	Weak transcription	Fetal Intestine Small	intestine
18	chr9:22110000-22113000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr9:22110600-22112600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr9:22110600-22112600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr9:22110600-22113200	Enhancers	NHLF	lung
22	chr9:22110800-22112600	Enhancers	Osteobl	bone
23	chr9:22110800-22113000	Enhancers	NH-A	brain
24	chr9:22111000-22112400	Enhancers	HSMM	muscle
25	chr9:22111000-22112400	Enhancers	HSMMtube	muscle
26	chr9:22111000-22112400	Enhancers	NHEK	skin
27	chr9:22111000-22112600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:22111000-22112600	Enhancers	NHDF-Ad	bronchial
29	chr9:22111200-22112000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:22111200-22112400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr9:22111200-22112400	Enhancers	HUVEC	blood vessel
32	chr9:22111200-22112600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr9:22111200-22112600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr9:22111200-22113400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr9:22111200-22113800	Enhancers	Stomach Mucosa	stomach
36	chr9:22111400-22112400	Enhancers	Hela-S3	cervix
37	chr9:22111400-22116200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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