Variant report

Variant	rs8011374
Chromosome Location	chr14:55124327-55124328
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55041072..55043932-chr14:55123792..55126617,2	MCF-7	breast:
2	chr14:55112933..55122073-chr14:55122136..55129636,16	MCF-7	breast:
3	chr14:55123104..55125595-chr14:55126892..55129709,3	K562	blood:
4	chr14:55123295..55127297-chr14:55131609..55134377,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000020577	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11158019	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12586646	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12888372	0.84[CEU][hapmap]
rs12890352	0.89[CEU][hapmap];0.98[GIH][hapmap];0.80[MEX][hapmap];0.82[YRI][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17728293	0.89[CEU][hapmap];0.93[GIH][hapmap];0.80[MEX][hapmap]
rs2025130	0.96[CEU][hapmap];0.89[GIH][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes]
rs4553503	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs4898844	0.89[CEU][hapmap];0.93[GIH][hapmap];0.80[MEX][hapmap];0.82[YRI][hapmap]
rs7151563	0.88[EUR][1000 genomes]
rs7155089	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7158091	0.89[CEU][hapmap];0.85[GIH][hapmap]
rs8022597	0.90[EUR][1000 genomes]
rs911621	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][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	nsv974464	chr14:55092217-55152792	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8011374	PTGER2	cis	cerebellum	SCAN
rs8011374	GNPNAT1	cis	parietal	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55117600-55129400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:55119000-55132400	Enhancers	HepG2	liver
3	chr14:55119800-55135800	Weak transcription	Fetal Brain Male	brain
4	chr14:55120000-55179400	Weak transcription	Fetal Intestine Small	intestine
5	chr14:55120200-55124600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr14:55120800-55125600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:55120800-55137400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:55121000-55124600	Weak transcription	NHEK	skin
9	chr14:55121000-55138200	Weak transcription	Aorta	Aorta
10	chr14:55121200-55124400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:55121200-55126800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:55121400-55136400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:55121600-55125200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:55121600-55125200	Weak transcription	Colon Smooth Muscle	Colon
15	chr14:55121600-55125400	Weak transcription	Placenta	Placenta
16	chr14:55121600-55127200	Weak transcription	Brain Anterior Caudate	brain
17	chr14:55121600-55129400	Weak transcription	Fetal Stomach	stomach
18	chr14:55121600-55129600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:55121800-55124400	Weak transcription	HMEC	breast
20	chr14:55121800-55125200	Weak transcription	Lung	lung
21	chr14:55121800-55125200	Weak transcription	Psoas Muscle	Psoas
22	chr14:55121800-55125400	Weak transcription	A549	lung
23	chr14:55121800-55128400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:55121800-55135600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:55121800-55135800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:55121800-55135800	Weak transcription	NH-A	brain
27	chr14:55122000-55124400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:55122000-55124800	Weak transcription	Fetal Muscle Leg	muscle
29	chr14:55122000-55125200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr14:55122000-55125200	Weak transcription	Spleen	Spleen
31	chr14:55122000-55125400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:55122000-55126400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:55122000-55126600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:55122000-55127200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr14:55122000-55127200	Weak transcription	HSMMtube	muscle
36	chr14:55122000-55131000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:55122000-55134000	Weak transcription	Brain Substantia Nigra	brain
38	chr14:55122000-55134200	Weak transcription	NHLF	lung
39	chr14:55122000-55136200	Weak transcription	Osteobl	bone
40	chr14:55122200-55124400	Weak transcription	Left Ventricle	heart
41	chr14:55122200-55124400	Weak transcription	HUVEC	blood vessel
42	chr14:55122200-55125000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:55122200-55125200	Weak transcription	Right Atrium	heart
44	chr14:55122200-55125200	Weak transcription	Right Ventricle	heart
45	chr14:55122200-55125400	Weak transcription	Adipose Nuclei	Adipose
46	chr14:55122200-55125400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr14:55122200-55125400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr14:55122200-55125400	Weak transcription	HSMM	muscle
49	chr14:55122200-55131200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr14:55122200-55133800	Weak transcription	NHDF-Ad	bronchial

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