Variant report

Variant	rs13246825
Chromosome Location	chr7:116789048-116789049
allele	C/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	chr7:116789022-116789072	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:116787052..116789329-chr7:116797012..116799640,2	K562	blood:
2	chr7:116785354..116788256-chr7:116788814..116790892,2	K562	blood:
3	chr7:116782613..116784336-chr7:116787035..116789489,2	K562	blood:

Variant related genes	Relation type
ST7-AS2	TF binding region
ENSG00000226367	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs13227862	0.87[CEU][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13229745	0.81[CEU][hapmap];0.82[MEX][hapmap]
rs34656305	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34791149	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55912105	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56680066	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57745328	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60877331	0.83[EUR][1000 genomes]
rs71564582	0.80[EUR][1000 genomes]
rs73211920	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73211938	0.83[EUR][1000 genomes]
rs73211939	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73211943	0.82[EUR][1000 genomes]
rs7806551	0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831108	chr7:116749534-116952011	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13246825	GPR85	cis	cerebellum	SCAN

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116754200-116797400	Weak transcription	Fetal Stomach	stomach
2	chr7:116765000-116790200	Weak transcription	Psoas Muscle	Psoas
3	chr7:116765000-116792400	Weak transcription	Fetal Kidney	kidney
4	chr7:116765000-116797200	Weak transcription	Pancreas	Pancrea
5	chr7:116765400-116791800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr7:116765400-116798000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr7:116767000-116797400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:116767200-116797200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:116767600-116797200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:116773000-116791600	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:116773600-116797000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:116775200-116790800	Weak transcription	Fetal Brain Male	brain
13	chr7:116775200-116791800	Weak transcription	Small Intestine	intestine
14	chr7:116775800-116798000	Weak transcription	Hela-S3	cervix
15	chr7:116776200-116797000	Weak transcription	Brain Hippocampus Middle	brain
16	chr7:116776200-116797200	Weak transcription	Gastric	stomach
17	chr7:116776400-116797200	Weak transcription	NHLF	lung
18	chr7:116776400-116830200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:116776600-116792400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:116776600-116792600	Weak transcription	Brain Angular Gyrus	brain
21	chr7:116776600-116797000	Weak transcription	HSMM	muscle
22	chr7:116776600-116797400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:116776800-116789400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr7:116778800-116790400	Weak transcription	Aorta	Aorta
25	chr7:116778800-116791400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr7:116778800-116791800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:116778800-116794200	Weak transcription	Right Ventricle	heart
28	chr7:116779200-116797400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:116779600-116811200	Weak transcription	Fetal Brain Female	brain
30	chr7:116779800-116797000	Weak transcription	Brain Germinal Matrix	brain
31	chr7:116781200-116797000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:116781400-116792400	Weak transcription	Liver	Liver
33	chr7:116782400-116792600	Weak transcription	HSMMtube	muscle
34	chr7:116782600-116795000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:116783200-116794400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:116783400-116791800	Weak transcription	Left Ventricle	heart
37	chr7:116783400-116792400	Weak transcription	Fetal Muscle Leg	muscle
38	chr7:116783400-116794200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr7:116783400-116797200	Weak transcription	Lung	lung
40	chr7:116783400-116811000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:116783600-116793000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:116783800-116792400	Weak transcription	Fetal Lung	lung
43	chr7:116783800-116794400	Weak transcription	Placenta	Placenta
44	chr7:116783800-116796600	Weak transcription	Osteobl	bone
45	chr7:116783800-116797200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:116783800-116797200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:116783800-116797200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:116783800-116797200	Weak transcription	NH-A	brain
49	chr7:116784000-116789800	Weak transcription	K562	blood
50	chr7:116784000-116791400	Weak transcription	Fetal Heart	heart

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