Variant report

Variant	rs62238089
Chromosome Location	chr22:31286320-31286321
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

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	CTCF	chr22:31286240-31286390	NHLF	lung:	n/a	n/a
3	POLR2A	chr22:31285633-31287194	HepG2	liver:	n/a	n/a
4	CTCF	chr22:31286053-31287242	SK-N-SH	brain:	n/a	n/a
5	CTCF	chr22:31286320-31286470	RPTEC	kidney:	n/a	n/a
6	CTCF	chr22:31286076-31287241	A549	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31275934..31283484-chr22:31284259..31290179,9	K562	blood:
2	chr22:31286278..31287276-chr22:31480837..31481384,3	MCF-7	breast:
3	chr22:31030117..31031164-chr22:31286279..31286856,3	MCF-7	breast:
4	chr22:31159331..31161030-chr22:31286318..31287902,10	MCF-7	breast:
5	chr22:31159479..31160368-chr22:31286026..31286882,2	K562	blood:
6	chr22:31218256..31219234-chr22:31285689..31286498,2	MCF-7	breast:

No data

Variant related genes	Relation type
OSBP2	TF binding region
ENSG00000184792	Chromatin interaction
ENSG00000183963	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2285920	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4820922	0.81[ASN][1000 genomes]
rs56683450	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5749190	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5749196	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5749205	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5753371	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753380	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5753409	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753416	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5753425	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62236060	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62238091	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62238093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62238094	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62238096	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[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	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

No data

Chromatin state (count:87 , 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	chr22:31278200-31286600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr22:31278200-31288200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr22:31278400-31288600	Weak transcription	HSMMtube	muscle
10	chr22:31278400-31291800	Weak transcription	HMEC	breast
11	chr22:31278400-31292600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr22:31278400-31301600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr22:31278600-31321400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:31278800-31295000	Weak transcription	Small Intestine	intestine
15	chr22:31278800-31301600	Weak transcription	A549	lung
16	chr22:31279400-31288600	Weak transcription	Hela-S3	cervix
17	chr22:31280200-31287200	Genic enhancers	Fetal Intestine Small	intestine
18	chr22:31280200-31288200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr22:31281400-31288800	Weak transcription	Lung	lung
20	chr22:31281600-31286600	Weak transcription	K562	blood
21	chr22:31282200-31289000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr22:31282200-31289600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr22:31282200-31294400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr22:31282600-31287800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr22:31282600-31287800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr22:31282800-31294200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr22:31283000-31287200	Genic enhancers	Fetal Intestine Large	intestine
28	chr22:31283000-31290600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr22:31283000-31306600	Weak transcription	Fetal Heart	heart
30	chr22:31283200-31289800	Strong transcription	Spleen	Spleen
31	chr22:31283200-31290000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr22:31283400-31286600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr22:31283400-31286600	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr22:31283400-31286800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr22:31283400-31290200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr22:31283400-31290200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr22:31283400-31290200	Strong transcription	Fetal Stomach	stomach
38	chr22:31283400-31290600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr22:31283400-31290800	Weak transcription	Colon Smooth Muscle	Colon
40	chr22:31283400-31291000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr22:31283400-31291200	Strong transcription	Brain Cingulate Gyrus	brain
42	chr22:31283400-31291200	Strong transcription	Brain Hippocampus Middle	brain
43	chr22:31283400-31291400	Strong transcription	Brain Germinal Matrix	brain
44	chr22:31283400-31291400	Strong transcription	Fetal Brain Female	brain
45	chr22:31283400-31291600	Strong transcription	Brain Anterior Caudate	brain
46	chr22:31283400-31304000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr22:31283600-31288000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr22:31283600-31289600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr22:31283600-31290200	Strong transcription	Duodenum Mucosa	Duodenum
50	chr22:31283600-31290200	Strong transcription	Pancreas	Pancrea

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