Variant report

Variant	rs241729
Chromosome Location	chr22:33374127-33374128
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32292186-32294405..22:33368625-33375969	K562	blood:
2	22:32868055-32872511..22:33368625-33375969	K562	blood:
3	22:32053085-32061138..22:33368625-33375969	Hela-S3	cervix:
4	22:32920308-32927723..22:33368625-33375969	H1-hESC	embryonic stem cell:	embryo
5	22:32594665-32606395..22:33368625-33375969	K562	blood:

Variant related genes	Relation type
ENSG00000242082	Chromatin interaction
ENSG00000128253	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000254127	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000100225	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs133925	0.89[ASN][1000 genomes]
rs133926	0.86[CHB][hapmap]
rs133931	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs133934	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs133937	0.86[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap]
rs133938	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs133967	0.86[ASW][hapmap];0.81[GIH][hapmap]
rs137552	0.93[CHB][hapmap];0.89[CHD][hapmap]
rs241707	0.86[CHB][hapmap];0.86[CHD][hapmap];0.82[ASN][1000 genomes]
rs241708	0.92[CHB][hapmap];0.83[ASN][1000 genomes]
rs241709	0.93[CHB][hapmap];0.83[ASN][1000 genomes]
rs241711	0.82[ASN][1000 genomes]
rs241712	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs241714	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs241715	0.86[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs241717	0.80[ASN][1000 genomes]
rs241721	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs241725	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs241727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs241731	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs241732	0.93[CHB][hapmap];0.89[CHD][hapmap];0.83[ASN][1000 genomes]
rs241757	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs241758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs241760	0.93[CHB][hapmap]
rs241763	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs241764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs241765	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs241767	0.93[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs241873	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5754350	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5754351	0.83[EUR][1000 genomes]
rs5754366	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5754377	0.84[CHB][hapmap]
rs9609676	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs241729	MORC2	cis	parietal	SCAN
rs241729	OSBP2	cis	cerebellum	SCAN
rs241729	SYN3	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33314000-33380800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:33348000-33382400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:33354400-33381800	Weak transcription	Fetal Brain Male	brain
4	chr22:33354600-33387400	Weak transcription	Fetal Brain Female	brain
5	chr22:33361000-33380400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr22:33368800-33381800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr22:33369000-33376800	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr22:33371400-33375400	Weak transcription	HepG2	liver
9	chr22:33372000-33376400	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr22:33372000-33376800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr22:33372200-33374400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr22:33373000-33374200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr22:33373000-33374400	Weak transcription	Lung	lung
14	chr22:33373000-33375800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr22:33373800-33374200	Enhancers	NHEK	skin
16	chr22:33373800-33376200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr22:33374000-33374600	Strong transcription	Brain Angular Gyrus	brain
18	chr22:33374000-33376000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr22:33374000-33381800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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