Variant report

Variant	rs5753409
Chromosome Location	chr22:31375585-31375586
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	SETDB1	chr22:31375502-31376713	U2OS	brain:	n/a	n/a
2	POLR2A	chr22:31373217-31377074	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr22:31368958-31378923	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr22:31369206-31376719	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31375047..31376571-chr22:31391886..31394125,2	MCF-7	breast:
2	chr22:31375006..31378537-chr22:31476924..31478681,3	MCF-7	breast:
3	chr22:31371236..31374508-chr22:31375496..31377845,5	K562	blood:
4	chr22:31373202..31375614-chr22:31847172..31848695,2	K562	blood:

Variant related genes	Relation type
ENSG00000269987	TF binding region
ENSG00000269972	TF binding region
ENSG00000269972	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000184708	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2285920	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2286214	1.00[YRI][hapmap]
rs4820922	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs56683450	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5749190	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5749196	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5749205	1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753371	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5753375	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5753380	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5753391	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753416	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753425	0.85[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs62236060	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62238089	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62238091	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62238093	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62238094	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62238096	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31366200-31375800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31366400-31376800	ZNF genes & repeats	Brain Germinal Matrix	brain
3	chr22:31366600-31376400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
4	chr22:31366800-31380800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:31367200-31376000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
6	chr22:31367600-31375600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr22:31367600-31376000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr22:31371800-31375600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:31371800-31375800	Weak transcription	HepG2	liver
10	chr22:31371800-31376200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr22:31372000-31376200	Weak transcription	NH-A	brain
12	chr22:31372800-31376000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr22:31373000-31375800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr22:31373000-31381800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr22:31373800-31375800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr22:31374000-31375800	Weak transcription	Osteobl	bone
17	chr22:31374200-31376000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:31374200-31376800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr22:31374400-31384000	Weak transcription	HSMMtube	muscle
20	chr22:31374600-31376200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr22:31374600-31379200	Weak transcription	HSMM	muscle
22	chr22:31374800-31375600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr22:31374800-31375800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr22:31374800-31375800	Weak transcription	NHLF	lung
25	chr22:31374800-31376000	Weak transcription	Psoas Muscle	Psoas
26	chr22:31374800-31378000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr22:31375000-31377200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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