Variant report

Variant	rs9609144
Chromosome Location	chr22:31288135-31288136
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:31285974-31289035	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr22:31288093-31288242	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr22:31288010-31288282	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31275934..31283484-chr22:31284259..31290179,9	K562	blood:

Variant related genes	Relation type
OSBP2	TF binding region
ENSG00000184792	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2107402	1.00[CHB][hapmap]
rs2269896	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2269897	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2285919	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9609160	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9609163	1.00[ASW][hapmap];0.94[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9609168	1.00[YRI][hapmap]
rs9609172	0.87[AMR][1000 genomes];0.83[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	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9609144	ZMAT5	cis	parietal	SCAN
rs9609144	TUG1	Cis_1M	lymphoblastoid	RTeQTL
rs9609144	SEZ6L	cis	cerebellum	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31265200-31299400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:31266400-31295200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr22:31274200-31308400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr22:31275800-31289400	Weak transcription	NHDF-Ad	bronchial
5	chr22:31277800-31295200	Weak transcription	Fetal Brain Male	brain
6	chr22:31278000-31290000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr22:31278200-31288200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr22:31278400-31288600	Weak transcription	HSMMtube	muscle
9	chr22:31278400-31291800	Weak transcription	HMEC	breast
10	chr22:31278400-31292600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr22:31278400-31301600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr22:31278600-31321400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:31278800-31295000	Weak transcription	Small Intestine	intestine
14	chr22:31278800-31301600	Weak transcription	A549	lung
15	chr22:31279400-31288600	Weak transcription	Hela-S3	cervix
16	chr22:31280200-31288200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr22:31281400-31288800	Weak transcription	Lung	lung
18	chr22:31282200-31289000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr22:31282200-31289600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr22:31282200-31294400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr22:31282800-31294200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr22:31283000-31290600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr22:31283000-31306600	Weak transcription	Fetal Heart	heart
24	chr22:31283200-31289800	Strong transcription	Spleen	Spleen
25	chr22:31283200-31290000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr22:31283400-31290200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr22:31283400-31290200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr22:31283400-31290200	Strong transcription	Fetal Stomach	stomach
29	chr22:31283400-31290600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr22:31283400-31290800	Weak transcription	Colon Smooth Muscle	Colon
31	chr22:31283400-31291000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr22:31283400-31291200	Strong transcription	Brain Cingulate Gyrus	brain
33	chr22:31283400-31291200	Strong transcription	Brain Hippocampus Middle	brain
34	chr22:31283400-31291400	Strong transcription	Brain Germinal Matrix	brain
35	chr22:31283400-31291400	Strong transcription	Fetal Brain Female	brain
36	chr22:31283400-31291600	Strong transcription	Brain Anterior Caudate	brain
37	chr22:31283400-31304000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr22:31283600-31289600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr22:31283600-31290200	Strong transcription	Duodenum Mucosa	Duodenum
40	chr22:31283600-31290200	Strong transcription	Pancreas	Pancrea
41	chr22:31283600-31291000	Weak transcription	NHLF	lung
42	chr22:31283600-31291200	Strong transcription	Brain Substantia Nigra	brain
43	chr22:31283600-31292800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr22:31283600-31318400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr22:31284200-31290600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr22:31284200-31291800	Strong transcription	NHEK	skin
47	chr22:31284400-31308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr22:31284600-31293000	Strong transcription	Fetal Lung	lung
49	chr22:31284600-31295200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr22:31284800-31306600	Weak transcription	Colonic Mucosa	Colon

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