Variant report

Variant	rs9606993
Chromosome Location	chr22:33167668-33167669
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32920308-32927723..22:33154607-33167707	H1-hESC	embryonic stem cell:	embryo
2	22:32578360-32590642..22:33154607-33167707	K562	blood:
3	22:32342898-32343477..22:33154607-33167707	Hela-S3	cervix:
4	22:32764253-32784733..22:33154607-33167707	K562	blood:
5	22:32053085-32061138..22:33154607-33167707	K562	blood:
6	22:33154607-33167707..22:33262063-33266567	Hela-S3	cervix:
7	22:33154607-33167707..22:33339333-33353583	Hela-S3	cervix:
8	22:32292186-32294405..22:33154607-33167707	K562	blood:
9	22:32594665-32606395..22:33154607-33167707	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
ENSG00000185666	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000242082	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000254127	Chromatin interaction
ENSG00000128253	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000205853	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1018790	0.86[CHB][hapmap];0.90[CHD][hapmap];0.86[ASN][1000 genomes]
rs1018792	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10854629	0.86[CHB][hapmap]
rs11089594	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs130269	0.83[AMR][1000 genomes]
rs130270	0.87[CEU][hapmap];0.90[CHB][hapmap];0.83[AMR][1000 genomes]
rs130275	0.80[CEU][hapmap];0.83[GIH][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes]
rs130276	0.82[AMR][1000 genomes]
rs130287	0.80[CEU][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes]
rs130525	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs130530	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs130532	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs130533	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs130538	0.94[CEU][hapmap];0.89[JPT][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs130548	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs130551	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs130559	0.94[CEU][hapmap];0.90[CHB][hapmap];0.80[CHD][hapmap];0.83[GIH][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs130560	0.94[CEU][hapmap];0.90[CHB][hapmap];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs135149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1962223	0.87[CEU][hapmap];0.90[CHB][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2097326	0.86[CHB][hapmap]
rs2413148	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2413151	0.86[CHB][hapmap];0.82[CHD][hapmap];0.82[MEX][hapmap]
rs2899194	0.86[CHB][hapmap];0.82[CHD][hapmap];0.82[MEX][hapmap]
rs4322932	0.91[ASN][1000 genomes]
rs4635627	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4821094	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4821095	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4821096	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4821100	0.86[CHB][hapmap];0.82[CHD][hapmap];0.82[MEX][hapmap]
rs4821101	0.86[CHB][hapmap]
rs5749504	0.86[CHB][hapmap];0.82[CHD][hapmap];0.82[MEX][hapmap]
rs5749505	0.80[CHB][hapmap];0.82[CHD][hapmap];0.82[MEX][hapmap]
rs5754251	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5754253	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs5754258	0.86[CHB][hapmap]
rs5754260	0.86[CHB][hapmap]
rs5754263	0.84[CHB][hapmap]
rs5994618	0.84[ASN][1000 genomes]
rs5994619	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5998616	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5998622	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72487604	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs762887	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs80269	0.94[CEU][hapmap];0.90[CHB][hapmap];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs929013	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs929014	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs929015	0.86[CHB][hapmap];0.82[CHD][hapmap];0.82[MEX][hapmap]
rs9606991	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9606992	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9609622	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9609623	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9609631	0.94[CEU][hapmap];0.90[CHB][hapmap];0.87[AMR][1000 genomes];0.83[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	nsv1061384	chr22:33165464-33191811	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9606993	INPP5J	cis	cerebellum	SCAN
rs9606993	SFI1	cis	cerebellum	SCAN
rs9606993	EMID1	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33151000-33175400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr22:33158400-33171800	Weak transcription	HepG2	liver
3	chr22:33161400-33167800	Weak transcription	Right Atrium	heart
4	chr22:33161800-33168800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:33165800-33169800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:33166200-33167800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr22:33166600-33169200	Enhancers	Thymus	Thymus
8	chr22:33167200-33169200	Enhancers	Dnd41	blood
9	chr22:33167200-33169400	Enhancers	Fetal Thymus	thymus
10	chr22:33167400-33169800	Enhancers	Fetal Muscle Leg	muscle
11	chr22:33167600-33168000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr22:33167600-33168400	Enhancers	HSMMtube	muscle

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