Variant report

Variant	rs10217720
Chromosome Location	chr9:22108942-22108943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr9:22108861-22109513	MCF-7	breast:	n/a	chr9:22109255-22109264 chr9:22109252-22109268 chr9:22109134-22109142 chr9:22109133-22109142 chr9:22109246-22109263
2	KAP1	chr9:22108711-22109959	U2OS	brain:	n/a	n/a
3	NR2F2	chr9:22108910-22109401	MCF-7	breast:	n/a	n/a
4	JUND	chr9:22108593-22108960	HepG2	liver:	n/a	n/a
5	EP300	chr9:22108890-22109425	MCF-7	breast:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:22098016..22100676-chr9:22106122..22109084,4	MCF-7	breast:
2	chr9:22107143..22109663-chr9:22210637..22212832,3	MCF-7	breast:
3	chr9:22106343..22112134-chr9:22114356..22121456,14	MCF-7	breast:
4	chr9:22106947..22109176-chr9:22216532..22218954,2	MCF-7	breast:
5	chr9:22078947..22090885-chr9:22096375..22111093,52	MCF-7	breast:
6	chr9:22080093..22089919-chr9:22099951..22109614,29	MCF-7	breast:
7	chr9:22051697..22054295-chr9:22107294..22109558,2	MCF-7	breast:
8	chr9:21805334..21807056-chr9:22107638..22109490,2	MCF-7	breast:
9	chr9:21802397..21805194-chr9:22105576..22110033,4	MCF-7	breast:
10	chr9:22101484..22107036-chr9:22107375..22109985,6	MCF-7	breast:
11	chr9:22107525..22110347-chr9:22123401..22125908,2	MCF-7	breast:
12	chr9:22102906..22108968-chr9:22209587..22214559,10	MCF-7	breast:
13	chr9:22107221..22109848-chr9:22158958..22160499,2	MCF-7	breast:
14	chr9:22106401..22111630-chr9:22133940..22138604,9	MCF-7	breast:
15	chr9:22108454..22110071-chr9:22237299..22239893,2	MCF-7	breast:
16	chr9:22095565..22097696-chr9:22107137..22108980,2	MCF-7	breast:
17	chr9:22105576..22108969-chr9:22134312..22138270,4	MCF-7	breast:

No data

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

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

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

rs_ID	r²[population]
rs16905635	0.91[AMR][1000 genomes]
rs16905644	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66735603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72654222	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72654246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72654298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73448370	0.83[AMR][1000 genomes]
rs7855190	0.91[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22097800-22122400	Weak transcription	Dnd41	blood
2	chr9:22101600-22109800	Enhancers	Fetal Intestine Large	intestine
3	chr9:22101600-22110000	Enhancers	Fetal Intestine Small	intestine
4	chr9:22104600-22116600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr9:22105800-22114000	Weak transcription	Colonic Mucosa	Colon
6	chr9:22105800-22117400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr9:22106400-22110000	Enhancers	Stomach Mucosa	stomach
8	chr9:22106600-22117600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:22106800-22109200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:22107000-22109000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr9:22107000-22109400	Enhancers	NHLF	lung
12	chr9:22107000-22110000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr9:22107600-22109000	Enhancers	HUVEC	blood vessel
14	chr9:22107600-22111000	Weak transcription	HSMMtube	muscle
15	chr9:22107600-22116800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr9:22107600-22117200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:22107800-22111000	Weak transcription	HSMM	muscle
18	chr9:22107800-22111200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:22107800-22111400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:22107800-22111800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:22107800-22112000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:22107800-22112200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:22107800-22113200	Weak transcription	HepG2	liver
24	chr9:22108000-22110600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr9:22108000-22111000	Weak transcription	NHEK	skin
26	chr9:22108000-22111200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr9:22108000-22111400	Weak transcription	Hela-S3	cervix
28	chr9:22108000-22111800	Weak transcription	HMEC	breast
29	chr9:22108200-22109800	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr9:22108400-22109000	Enhancers	Adipose Nuclei	Adipose
31	chr9:22108400-22109600	Weak transcription	Small Intestine	intestine
32	chr9:22108400-22110800	Weak transcription	NH-A	brain
33	chr9:22108600-22110600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:22108600-22110800	Weak transcription	Osteobl	bone
35	chr9:22108600-22111000	Weak transcription	NHDF-Ad	bronchial
36	chr9:22108600-22111800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr9:22108800-22109000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:22108800-22109200	Weak transcription	Duodenum Mucosa	Duodenum

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