Variant report

Variant	rs1018790
Chromosome Location	chr22:33154974-33154975
allele	C/T
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
ENSG00000241954	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000254127	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000242082	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000128253	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1018792	0.88[ASN][1000 genomes]
rs11089594	0.88[ASN][1000 genomes]
rs130525	0.85[ASN][1000 genomes]
rs130530	0.84[CHB][hapmap];0.86[ASN][1000 genomes]
rs130532	0.86[ASN][1000 genomes]
rs130533	0.86[ASN][1000 genomes]
rs135149	0.86[ASN][1000 genomes]
rs2413148	0.86[ASN][1000 genomes]
rs3827342	0.86[CHB][hapmap];0.80[CHD][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs4322932	0.84[ASN][1000 genomes]
rs4635627	0.86[ASN][1000 genomes]
rs4821093	0.89[ASN][1000 genomes]
rs4821094	0.88[ASN][1000 genomes]
rs4821095	0.88[ASN][1000 genomes]
rs4821096	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs5754251	0.88[ASN][1000 genomes]
rs5994618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5994619	0.88[ASN][1000 genomes]
rs5998616	0.88[ASN][1000 genomes]
rs5998622	0.88[ASN][1000 genomes]
rs5998623	0.88[YRI][hapmap]
rs5998625	0.86[YRI][hapmap]
rs5998629	0.86[YRI][hapmap]
rs72487604	0.88[ASN][1000 genomes]
rs7284103	0.86[YRI][hapmap]
rs762887	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs8136169	0.82[YRI][hapmap]
rs929013	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs929014	0.86[CHB][hapmap];0.90[CHD][hapmap];0.86[ASN][1000 genomes]
rs9606991	0.88[ASN][1000 genomes]
rs9606992	0.88[ASN][1000 genomes]
rs9606993	0.86[CHB][hapmap];0.90[CHD][hapmap];0.86[ASN][1000 genomes]
rs9609622	0.88[ASN][1000 genomes]
rs9609623	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv3389882	chr22:33154777-33157325	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	esv3328989	chr22:33154902-33157275	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1018790	INPP5J	cis	cerebellum	SCAN
rs1018790	SFI1	cis	cerebellum	SCAN
rs1018790	HSCB	cis	parietal	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33149200-33157200	Weak transcription	NHLF	lung
2	chr22:33149400-33156600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr22:33149400-33157400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:33149600-33156400	Weak transcription	Placenta	Placenta
5	chr22:33149600-33157000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr22:33150800-33155000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr22:33151000-33156600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr22:33151000-33156600	Weak transcription	Fetal Stomach	stomach
9	chr22:33151000-33158000	Weak transcription	Right Ventricle	heart
10	chr22:33151000-33175400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr22:33151200-33155000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr22:33151200-33156200	Weak transcription	Lung	lung
13	chr22:33151200-33156400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr22:33151200-33156400	Weak transcription	Osteobl	bone
15	chr22:33151200-33156600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr22:33151200-33157000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr22:33151200-33157000	Weak transcription	NH-A	brain
18	chr22:33151400-33155000	Weak transcription	NHDF-Ad	bronchial
19	chr22:33151400-33156400	Weak transcription	Fetal Muscle Leg	muscle
20	chr22:33151400-33156400	Weak transcription	Spleen	Spleen
21	chr22:33151600-33156200	Weak transcription	Hela-S3	cervix
22	chr22:33151600-33156400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr22:33151600-33156400	Weak transcription	Psoas Muscle	Psoas
24	chr22:33151800-33155000	Weak transcription	Right Atrium	heart
25	chr22:33151800-33156200	Weak transcription	Left Ventricle	heart
26	chr22:33152800-33158000	Weak transcription	Pancreas	Pancrea
27	chr22:33153600-33156600	Weak transcription	HepG2	liver
28	chr22:33153800-33156400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr22:33154000-33156400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:33154000-33156800	Weak transcription	Fetal Thymus	thymus
31	chr22:33154400-33157800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr22:33154600-33156400	Enhancers	HSMM	muscle
33	chr22:33154800-33155200	Enhancers	Adipose Nuclei	Adipose
34	chr22:33154800-33155400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr22:33154800-33155400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr22:33154800-33155400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr22:33154800-33155800	Enhancers	HSMMtube	muscle

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