Variant report

Variant	rs2107402
Chromosome Location	chr22:31276915-31276916
allele	G/T
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	chr22:31276898-31276988	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31275934..31283484-chr22:31284259..31290179,9	K562	blood:
2	chr22:31275930..31278516-chr22:31475630..31478083,2	K562	blood:

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

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2269896	1.00[CHB][hapmap]
rs7284438	0.86[CEU][hapmap];0.88[JPT][hapmap]
rs9609144	1.00[CHB][hapmap]
rs9609154	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9609155	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9609157	0.82[EUR][1000 genomes]
rs9609160	0.88[JPT][hapmap]
rs9609163	0.88[JPT][hapmap]
rs9609168	0.88[JPT][hapmap]
rs9609197	0.86[CEU][hapmap];0.88[JPT][hapmap]

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	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
2	nsv914974	chr22:31249333-31279536	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2107402	TUG1	Cis_1M	lymphoblastoid	RTeQTL
rs2107402	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:49 , 50 per page) page: 1

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	chr22:31268800-31277200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr22:31269200-31277400	Weak transcription	Gastric	stomach
5	chr22:31269400-31284200	Weak transcription	NHEK	skin
6	chr22:31269800-31277800	Weak transcription	Pancreas	Pancrea
7	chr22:31269800-31283400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr22:31270800-31278400	Enhancers	Fetal Muscle Leg	muscle
9	chr22:31271600-31277800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr22:31272000-31277400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr22:31272000-31278400	Enhancers	Right Ventricle	heart
12	chr22:31272200-31277600	Enhancers	Placenta	Placenta
13	chr22:31272200-31277800	Enhancers	Fetal Lung	lung
14	chr22:31272200-31280600	Enhancers	Fetal Heart	heart
15	chr22:31273000-31277800	Enhancers	Fetal Brain Male	brain
16	chr22:31273200-31277000	Weak transcription	A549	lung
17	chr22:31273200-31277800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr22:31273600-31277600	Enhancers	Fetal Intestine Small	intestine
19	chr22:31273800-31277600	Enhancers	Fetal Intestine Large	intestine
20	chr22:31273800-31278400	Enhancers	HSMMtube	muscle
21	chr22:31274200-31277200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:31274200-31308400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr22:31275000-31277200	Enhancers	K562	blood
24	chr22:31275200-31277200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr22:31275200-31278200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr22:31275200-31278400	Enhancers	Fetal Muscle Trunk	muscle
27	chr22:31275200-31284200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr22:31275400-31280200	Weak transcription	Brain Anterior Caudate	brain
29	chr22:31275600-31283400	Weak transcription	Brain Germinal Matrix	brain
30	chr22:31275800-31277000	Enhancers	Spleen	Spleen
31	chr22:31275800-31277200	Weak transcription	Brain Hippocampus Middle	brain
32	chr22:31275800-31277600	Enhancers	Hela-S3	cervix
33	chr22:31275800-31283600	Weak transcription	HSMM	muscle
34	chr22:31275800-31284800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr22:31275800-31285000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr22:31275800-31289400	Weak transcription	NHDF-Ad	bronchial
37	chr22:31276200-31277000	Bivalent Enhancer	HepG2	liver
38	chr22:31276400-31277400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr22:31276400-31277800	Weak transcription	Right Atrium	heart
40	chr22:31276400-31278000	Enhancers	Brain Angular Gyrus	brain
41	chr22:31276400-31278000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr22:31276400-31283400	Weak transcription	Fetal Brain Female	brain
43	chr22:31276400-31283600	Weak transcription	Brain Substantia Nigra	brain
44	chr22:31276600-31277200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr22:31276600-31277400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr22:31276600-31280200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr22:31276800-31278000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr22:31276800-31278200	Enhancers	Left Ventricle	heart
49	chr22:31276800-31278600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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