Variant report

Variant	rs60497698
Chromosome Location	chr8:121000696-121000697
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10087551	0.84[EUR][1000 genomes]
rs12547479	0.84[EUR][1000 genomes]
rs17822044	0.85[EUR][1000 genomes]
rs1973732	0.83[EUR][1000 genomes]
rs28464637	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58466445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67282053	0.85[EUR][1000 genomes]
rs72673678	0.80[EUR][1000 genomes]
rs9656934	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv891419	chr8:120990455-121047798	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs60497698	DEPDC6	cis	intralobular white matter	BrainEAC
rs60497698	DSCC1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120978000-121013600	Weak transcription	Gastric	stomach
2	chr8:120990800-121001600	Weak transcription	Ovary	ovary
3	chr8:120991200-121013400	Weak transcription	Fetal Stomach	stomach
4	chr8:120991400-121003000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:120995400-121002600	Weak transcription	Adipose Nuclei	Adipose
6	chr8:120995400-121002800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:120995600-121038400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:120995800-121002800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:120995800-121002800	Weak transcription	Brain Angular Gyrus	brain
10	chr8:120995800-121003400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:120995800-121013800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:120996000-121003200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:120996200-121001400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr8:120996400-121001400	Weak transcription	Small Intestine	intestine
15	chr8:120996400-121001600	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:120996400-121002600	Weak transcription	Brain Substantia Nigra	brain
17	chr8:120996400-121002600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr8:120996600-121001600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr8:120996800-121003000	Weak transcription	Fetal Intestine Large	intestine
20	chr8:120999400-121000800	Enhancers	Placenta	Placenta
21	chr8:120999800-121001000	Strong transcription	Fetal Intestine Small	intestine
22	chr8:121000000-121002800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:121000000-121003600	Weak transcription	Right Atrium	heart
24	chr8:121000200-121001000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr8:121000200-121001600	Weak transcription	Psoas Muscle	Psoas
26	chr8:121000200-121002600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:121000200-121004400	Weak transcription	Fetal Kidney	kidney
28	chr8:121000400-121002000	Weak transcription	Stomach Mucosa	stomach
29	chr8:121000400-121002600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:121000400-121002600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:121000600-121002600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:121000600-121002600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:121000600-121002600	Weak transcription	Lung	lung
34	chr8:121000600-121002600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:121000600-121003400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr8:121000600-121004400	Weak transcription	Spleen	Spleen
37	chr8:121000600-121019600	Weak transcription	Left Ventricle	heart

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