Variant report

Variant	rs17117326
Chromosome Location	chr14:73017126-73017127
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:73016000..73018976-chr14:73019130..73021543,2	K562	blood:
2	chr14:73016052..73018355-chr14:73018682..73020978,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10151504	1.00[MEX][hapmap]
rs17117195	0.82[ASW][hapmap];1.00[MEX][hapmap]
rs17117221	0.92[CHD][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap]
rs61299139	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs61489880	0.83[ASN][1000 genomes]
rs7146557	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.96[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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17117326	GPR3	trans	brain	seeQTL
rs17117326	ADAD2	trans	brain	seeQTL
rs17117326	INHBA	trans	brain	seeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:73012000-73025200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:73012200-73019000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr14:73012200-73019000	Weak transcription	Right Atrium	heart
4	chr14:73012200-73019600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr14:73012200-73019800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr14:73012200-73025600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:73012400-73018600	Weak transcription	Fetal Stomach	stomach
8	chr14:73012400-73019600	Weak transcription	Brain Hippocampus Middle	brain
9	chr14:73012400-73032000	Weak transcription	Brain Germinal Matrix	brain
10	chr14:73013800-73025000	Weak transcription	Fetal Brain Female	brain
11	chr14:73014000-73019600	Weak transcription	Left Ventricle	heart
12	chr14:73014000-73020000	Weak transcription	Brain Angular Gyrus	brain
13	chr14:73014600-73019400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:73014800-73026200	Weak transcription	Right Ventricle	heart
15	chr14:73015000-73019800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:73015200-73018600	Weak transcription	Fetal Heart	heart
17	chr14:73015800-73017200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr14:73015800-73017400	Enhancers	NHEK	skin
19	chr14:73016000-73017200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:73016000-73017200	Enhancers	Placenta	Placenta
21	chr14:73016000-73019600	Weak transcription	Fetal Brain Male	brain
22	chr14:73016000-73021600	Weak transcription	Spleen	Spleen
23	chr14:73016200-73019800	Weak transcription	NH-A	brain
24	chr14:73016400-73020800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr14:73016600-73017200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:73016600-73021400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:73016800-73017600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:73016800-73018400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:73016800-73019800	Weak transcription	HSMM	muscle
30	chr14:73016800-73020800	Weak transcription	Psoas Muscle	Psoas
31	chr14:73017000-73017200	Enhancers	Primary B cells from peripheral blood	blood
32	chr14:73017000-73017200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:73017000-73017200	Enhancers	HMEC	breast
34	chr14:73017000-73019600	Weak transcription	HSMMtube	muscle

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