Variant report

Variant	rs9621146
Chromosome Location	chr22:31376819-31376820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:31376560-31376973	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr22:31375817-31377149	MCF-7	breast:	n/a	n/a
3	POLR2A	chr22:31375918-31376833	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr22:31375927-31376965	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr22:31373217-31377074	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr22:31376620-31376912	K562	blood:	n/a	n/a
7	POLR2A	chr22:31376245-31377039	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr22:31368958-31378923	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr22:31375979-31377161	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr22:31375006..31378537-chr22:31476924..31478681,3	MCF-7	breast:
2	chr22:31376348..31379301-chr22:31392662..31394474,2	MCF-7	breast:
3	chr22:31371236..31374508-chr22:31375496..31377845,5	K562	blood:
4	chr22:31371775..31374026-chr22:31375760..31377892,3	K562	blood:
5	chr22:31375745..31378647-chr22:31380130..31383422,4	K562	blood:

No data

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

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11089483	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12158256	1.00[EUR][1000 genomes]
rs12166075	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12166445	1.00[EUR][1000 genomes]
rs12166521	1.00[EUR][1000 genomes]
rs12166797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12167130	1.00[EUR][1000 genomes]
rs12168605	1.00[EUR][1000 genomes]
rs12168997	1.00[EUR][1000 genomes]
rs12169136	1.00[EUR][1000 genomes]
rs12170790	1.00[EUR][1000 genomes]
rs13433649	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16989109	1.00[EUR][1000 genomes]
rs16989230	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2232171	1.00[EUR][1000 genomes]
rs2232180	1.00[EUR][1000 genomes]
rs28428739	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35239241	1.00[EUR][1000 genomes]
rs56686418	1.00[EUR][1000 genomes]
rs5994374	1.00[EUR][1000 genomes]
rs5997890	1.00[EUR][1000 genomes]
rs61736799	1.00[EUR][1000 genomes]
rs7284605	1.00[EUR][1000 genomes]
rs9619138	1.00[EUR][1000 genomes]
rs9619139	1.00[EUR][1000 genomes]
rs9619140	1.00[EUR][1000 genomes]
rs9619152	1.00[EUR][1000 genomes]
rs9619154	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621106	1.00[EUR][1000 genomes]
rs9621111	1.00[EUR][1000 genomes]
rs9621121	1.00[EUR][1000 genomes]
rs9621129	1.00[EUR][1000 genomes]
rs9621131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621150	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621151	0.91[AFR][1000 genomes];1.00[AMR][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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31366800-31380800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:31373000-31381800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr22:31374400-31384000	Weak transcription	HSMMtube	muscle
4	chr22:31374600-31379200	Weak transcription	HSMM	muscle
5	chr22:31374800-31378000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr22:31375000-31377200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr22:31376600-31379800	Weak transcription	HepG2	liver

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