Variant report

Variant	rs9609199
Chromosome Location	chr22:31437392-31437393
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11089485	0.90[YRI][hapmap]
rs12152151	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12166521	0.90[YRI][hapmap]
rs12168605	0.90[YRI][hapmap]
rs2107402	0.84[CEU][hapmap]
rs55646570	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7284438	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8142236	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9606794	0.81[ASN][1000 genomes]
rs9606799	0.85[ASN][1000 genomes]
rs9606806	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9609160	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs9609163	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.86[JPT][hapmap]
rs9609168	0.91[CEU][hapmap];0.86[JPT][hapmap]
rs9609189	0.85[ASN][1000 genomes]
rs9609192	0.85[ASN][1000 genomes]
rs9609197	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.98[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9609199	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs9609199	TUG1	Cis_1M	lymphoblastoid	RTeQTL
rs9609199	SEZ6L	cis	cerebellum	SCAN
rs9609199	C22orf31	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31433000-31440200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:31433000-31440200	Weak transcription	Right Atrium	heart
3	chr22:31433400-31440200	Weak transcription	Lung	lung
4	chr22:31433600-31440200	Weak transcription	Fetal Intestine Large	intestine
5	chr22:31433600-31441400	Weak transcription	Spleen	Spleen
6	chr22:31433600-31442200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr22:31433600-31442600	Weak transcription	HSMM	muscle
8	chr22:31433800-31446000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr22:31434600-31440200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr22:31435200-31440200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr22:31435800-31437800	Enhancers	HepG2	liver
12	chr22:31435800-31440200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr22:31435800-31440400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr22:31436000-31437600	Enhancers	Stomach Smooth Muscle	stomach
15	chr22:31436000-31440200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr22:31436000-31440200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr22:31436000-31440200	Weak transcription	Left Ventricle	heart
18	chr22:31436000-31440200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr22:31436000-31440200	Weak transcription	Osteobl	bone
20	chr22:31436000-31441400	Weak transcription	Colonic Mucosa	Colon
21	chr22:31436000-31441800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr22:31436000-31442200	Weak transcription	Placenta	Placenta
23	chr22:31436200-31440400	Weak transcription	NHDF-Ad	bronchial
24	chr22:31436200-31440400	Weak transcription	NHLF	lung
25	chr22:31436600-31437800	Weak transcription	Fetal Muscle Leg	muscle
26	chr22:31436600-31440200	Weak transcription	Ovary	ovary
27	chr22:31436800-31440000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr22:31437000-31440200	Weak transcription	Colon Smooth Muscle	Colon
29	chr22:31437200-31439800	Weak transcription	Fetal Stomach	stomach

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