Variant report

Variant	rs11703597
Chromosome Location	chr22:31377027-31377028
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:6)
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	POLR2A	chr22:31375817-31377149	MCF-7	breast:	n/a	n/a
2	POLR2A	chr22:31373217-31377074	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr22:31376245-31377039	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr22:31368958-31378923	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr22:31375979-31377161	HepG2	liver:	n/a	n/a

No data

(count:6 , 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:
6	chr22:31376895..31378981-chr22:31476540..31479475,2	K562	blood:

No data

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

Extended variants
information (count: 41 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10854601	0.83[EUR][1000 genomes]
rs11089481	0.89[EUR][1000 genomes]
rs11705565	0.88[EUR][1000 genomes]
rs12166294	0.91[EUR][1000 genomes]
rs12167144	0.86[EUR][1000 genomes]
rs12168307	0.91[EUR][1000 genomes]
rs1807686	0.83[EUR][1000 genomes]
rs2016654	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2072132	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2240175	0.82[EUR][1000 genomes]
rs2240176	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2240177	0.83[EUR][1000 genomes]
rs2240180	0.83[EUR][1000 genomes]
rs2240181	0.90[EUR][1000 genomes]
rs2240183	0.83[EUR][1000 genomes]
rs3747151	0.83[EUR][1000 genomes]
rs3804084	0.83[EUR][1000 genomes]
rs3827330	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3948685	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4820921	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5749192	0.83[EUR][1000 genomes]
rs5753373	0.89[EUR][1000 genomes]
rs5753377	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5753378	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5753379	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5753383	0.83[EUR][1000 genomes]
rs5753386	0.81[EUR][1000 genomes]
rs5753394	0.83[EUR][1000 genomes]
rs5753408	0.83[EUR][1000 genomes]
rs5997802	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5997837	0.87[EUR][1000 genomes]
rs7284474	0.87[EUR][1000 genomes]
rs7291361	0.83[EUR][1000 genomes]
rs7291471	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs737926	0.81[EUR][1000 genomes]
rs737927	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs739896	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8004	0.84[EUR][1000 genomes]
rs8139350	0.91[EUR][1000 genomes]
rs8140448	0.85[EUR][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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11703597	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs11703597	MORC2-AS1	cis	Whole Blood	GTEx
rs11703597	MORC2-AS1	cis	Nerve Tibial	GTEx
rs11703597	TUG1	Cis_1M	lymphoblastoid	RTeQTL
rs11703597	MORC2-AS1	cis	Thyroid	GTEx

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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