Variant report

Variant	rs9621173
Chromosome Location	chr22:31456352-31456353
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	CEBPB	chr22:31456248-31456448	K562	blood:	n/a	n/a
2	NR2F2	chr22:31456042-31456557	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31363691..31369255-chr22:31456002..31460514,7	MCF-7	breast:
2	chr22:31363469..31366268-chr22:31450278..31456884,6	MCF-7	breast:
3	chr22:31455769..31462183-chr22:31475245..31482356,13	K562	blood:
4	chr22:31455775..31461842-chr22:31476267..31480955,13	MCF-7	breast:

Variant related genes	Relation type
SMTN	TF binding region
ENSG00000253352	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000133422	Chromatin interaction
ENSG00000273387	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1004243	0.83[AMR][1000 genomes]
rs11089487	0.82[AMR][1000 genomes]
rs11089488	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11703478	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12330010	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12484046	0.92[EUR][1000 genomes]
rs13054770	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1558023	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2079429	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35657209	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35685997	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4281997	0.81[AMR][1000 genomes]
rs4820934	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7284108	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7285617	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs737930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8135353	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9619163	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs9621178	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9621184	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9621185	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9621187	0.83[AMR][1000 genomes]

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	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv524366	chr22:31440703-31480069	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv964620	chr22:31452981-31465140	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv962852	chr22:31455516-31465140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31452000-31458000	Weak transcription	Adipose Nuclei	Adipose
2	chr22:31452800-31456800	Weak transcription	Hela-S3	cervix
3	chr22:31452800-31458200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr22:31455400-31458400	Enhancers	K562	blood
5	chr22:31455600-31456400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr22:31455600-31456400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr22:31455600-31456400	Enhancers	Fetal Intestine Large	intestine
8	chr22:31455600-31456400	Enhancers	Fetal Intestine Small	intestine
9	chr22:31455600-31456400	Enhancers	Placenta	Placenta
10	chr22:31455600-31456400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr22:31455600-31456600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr22:31455600-31457000	Enhancers	HepG2	liver
13	chr22:31455600-31457600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr22:31455800-31456400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr22:31455800-31457400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr22:31455800-31458400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr22:31456000-31458200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr22:31456000-31458200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr22:31456000-31458200	Weak transcription	HMEC	breast
20	chr22:31456200-31456600	Weak transcription	NHEK	skin
21	chr22:31456200-31456800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr22:31456200-31457000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr22:31456200-31460000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr22:31456200-31460000	Weak transcription	A549	lung

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