Variant report

Variant	rs7284438
Chromosome Location	chr22:31433519-31433520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31432694..31434751-chr22:31475361..31478726,3	MCF-7	breast:
2	chr22:31431282..31433620-chr22:31481041..31483644,2	MCF-7	breast:
3	chr22:31432776..31435079-chr22:31450665..31453170,2	MCF-7	breast:
4	chr22:31431928..31434471-chr22:31449804..31451831,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183963	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12152151	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2107402	0.86[CEU][hapmap];0.88[JPT][hapmap]
rs55646570	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142236	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606794	0.83[ASN][1000 genomes]
rs9606799	0.88[ASN][1000 genomes]
rs9606806	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9609160	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9609163	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9609168	0.93[CEU][hapmap];1.00[JPT][hapmap]
rs9609189	0.88[ASN][1000 genomes]
rs9609192	0.88[ASN][1000 genomes]
rs9609197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609199	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv966103	chr22:31410201-31452981	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7284438	TUG1	Cis_1M	lymphoblastoid	RTeQTL
rs7284438	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31430000-31434200	Weak transcription	HepG2	liver
2	chr22:31431600-31434600	Enhancers	Fetal Muscle Trunk	muscle
3	chr22:31431800-31433800	Enhancers	Duodenum Mucosa	Duodenum
4	chr22:31431800-31436000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr22:31431800-31437200	Enhancers	Fetal Stomach	stomach
6	chr22:31432000-31433600	Enhancers	Placenta	Placenta
7	chr22:31432400-31433600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr22:31432400-31433600	Enhancers	Fetal Intestine Large	intestine
9	chr22:31432400-31433600	Enhancers	Fetal Intestine Small	intestine
10	chr22:31432600-31433800	Enhancers	Ovary	ovary
11	chr22:31432600-31436800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr22:31432800-31433600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr22:31432800-31433600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr22:31432800-31433600	Enhancers	Fetal Kidney	kidney
15	chr22:31432800-31433600	Flanking Active TSS	Fetal Lung	lung
16	chr22:31432800-31433600	Enhancers	Left Ventricle	heart
17	chr22:31432800-31433600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr22:31432800-31433600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr22:31432800-31434400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr22:31433000-31433600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr22:31433000-31434200	Weak transcription	Brain Angular Gyrus	brain
22	chr22:31433000-31440200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr22:31433000-31440200	Weak transcription	Right Atrium	heart
24	chr22:31433200-31433600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr22:31433200-31433600	Enhancers	Aorta	Aorta
26	chr22:31433200-31433600	Flanking Active TSS	Colon Smooth Muscle	Colon
27	chr22:31433200-31433600	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr22:31433200-31433600	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr22:31433200-31433600	Enhancers	Spleen	Spleen
30	chr22:31433200-31433600	Enhancers	HSMM	muscle
31	chr22:31433200-31433600	Flanking Active TSS	NHDF-Ad	bronchial
32	chr22:31433200-31435200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr22:31433200-31436600	Enhancers	Fetal Muscle Leg	muscle
34	chr22:31433400-31433600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
35	chr22:31433400-31433600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr22:31433400-31433600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr22:31433400-31433600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr22:31433400-31433600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
39	chr22:31433400-31433600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr22:31433400-31433600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr22:31433400-31433600	Enhancers	HSMMtube	muscle
42	chr22:31433400-31433600	Enhancers	NHEK	skin
43	chr22:31433400-31433600	Flanking Active TSS	NHLF	lung
44	chr22:31433400-31433800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr22:31433400-31433800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr22:31433400-31434000	Enhancers	Osteobl	bone
47	chr22:31433400-31434400	Weak transcription	A549	lung
48	chr22:31433400-31435200	Weak transcription	Brain Hippocampus Middle	brain
49	chr22:31433400-31435800	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr22:31433400-31436000	Enhancers	Adipose Nuclei	Adipose

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