Variant report

Variant	rs7169584
Chromosome Location	chr15:78822660-78822661
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:78815420..78817422-chr15:78821407..78822999,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12438181	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12438659	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12439240	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12441354	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12441426	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2036534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28395178	0.81[EUR][1000 genomes]
rs28437878	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28498264	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2869055	0.90[ASN][1000 genomes]
rs34138960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34664138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35212593	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3813570	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4461039	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs503464	0.83[EUR][1000 genomes]
rs57064725	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59133824	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59683676	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61204066	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs684513	0.82[EUR][1000 genomes]
rs7163730	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7173514	0.85[EUR][1000 genomes]
rs7181245	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7181447	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs905739	0.94[EUR][1000 genomes]
rs9788682	0.91[EUR][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	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv1038816	chr15:78796434-78881087	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7169584	RP11-650L12.2	cis	Muscle Skeletal	GTEx
rs7169584	CHRNA5	cis	Muscle Skeletal	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78800600-78823600	Weak transcription	Gastric	stomach
2	chr15:78800800-78823400	Weak transcription	Colon Smooth Muscle	Colon
3	chr15:78800800-78825600	Weak transcription	Brain Angular Gyrus	brain
4	chr15:78800800-78830800	Weak transcription	Right Ventricle	heart
5	chr15:78800800-78832000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr15:78800800-78832200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:78800800-78832200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr15:78800800-78832400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:78801000-78825600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:78801000-78829600	Weak transcription	Fetal Muscle Leg	muscle
11	chr15:78801000-78832200	Weak transcription	Adipose Nuclei	Adipose
12	chr15:78801000-78832200	Weak transcription	Fetal Kidney	kidney
13	chr15:78801000-78832200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr15:78801000-78832200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr15:78801000-78832200	Weak transcription	A549	lung
16	chr15:78803000-78832200	Weak transcription	Primary T cells from cord blood	blood
17	chr15:78810600-78832000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr15:78810600-78832400	Weak transcription	Aorta	Aorta
19	chr15:78810800-78832200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr15:78812000-78832200	Weak transcription	Fetal Stomach	stomach
21	chr15:78812400-78832200	Weak transcription	Fetal Intestine Large	intestine
22	chr15:78812600-78832200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr15:78816600-78832200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:78816800-78825400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr15:78817000-78832200	Weak transcription	Fetal Intestine Small	intestine
26	chr15:78821200-78832200	Weak transcription	Left Ventricle	heart
27	chr15:78821200-78832400	Weak transcription	Ovary	ovary
28	chr15:78821400-78832200	Weak transcription	Liver	Liver

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