Variant report

Variant	rs522616
Chromosome Location	chr11:102715048-102715049
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:102715020-102715070	GM12892	blood:	n/a
2	chr11:102715020-102715070	AG09309	skin:	n/a
3	chr11:102715020-102715070	NT2-D1	testis:	n/a
4	chr11:102715020-102715070	NHDF-neo	bronchial:	n/a
5	chr11:102715020-102715070	Hepatocyte	liver:	n/a
6	chr11:102715020-102715070	RPTEC	kidney:	n/a
7	chr11:102715020-102715070	HMEC	breast:	n/a
8	chr11:102715020-102715070	GM06990	blood:	n/a
9	chr11:102715020-102715070	ECC-1	luminal epithelium:	n/a
10	chr11:102715020-102715070	A549	lung:	n/a
11	chr11:102715020-102715070	MCF-7	breast:	n/a
12	chr11:102715020-102715070	HCF	heart:	n/a
13	chr11:102715020-102715070	H1-hESC	embryonic stem cell:	embryo
14	chr11:102715020-102715070	HCM	heart:	n/a
15	chr11:102715020-102715070	PFSK-1	brain:	n/a
16	chr11:102715020-102715070	HPAEpiC	pulmonary alveolar:	n/a
17	chr11:102715020-102715070	HIPEpiC	eye:	n/a
18	chr11:102715020-102715070	AG04449	skin:	fetal
19	chr11:102715020-102715070	BE2_C	brain:	n/a
20	chr11:102715020-102715070	NH-A	brain:	n/a
21	chr11:102715020-102715070	HUVEC	blood vessel:	n/a
22	chr11:102715020-102715070	NHBE	bronchial:	n/a
23	chr11:102715020-102715070	HRCEpiC	kidney:	n/a
24	chr11:102715020-102715070	AG04450	lung:	fetal
25	chr11:102715020-102715070	CMK	blood:	n/a
26	chr11:102715020-102715070	ovcar-3	ovarian:	n/a
27	chr11:102715020-102715070	MCF10A-Er-Src	breast:	n/a
28	chr11:102715020-102715070	HEEpiC	esophagus:	n/a
29	chr11:102715020-102715070	T-47D	breast:	n/a
30	chr11:102715020-102715070	HEK293	kidney:	embryo
31	chr11:102715020-102715070	AoSMC	blood vessel:	n/a
32	chr11:102715020-102715070	HepG2	liver:	n/a
33	chr11:102715020-102715070	GM12891	blood:	n/a
34	chr11:102715020-102715070	HAEpiC	amniotic membrane:	n/a
35	chr11:102715020-102715070	U87	brain:	n/a
36	chr11:102715020-102715070	GM12878	blood:	n/a
37	chr11:102715020-102715070	K562	blood:	n/a
38	chr11:102715020-102715070	SK-N-SH	brain:	n/a
39	chr11:102715020-102715070	BJ	skin:	n/a
40	chr11:102715020-102715070	SKMC	muscle:	n/a
41	chr11:102715020-102715070	SK-N-MC	brain:	n/a
42	chr11:102715020-102715070	Hela-S3	cervix:	n/a
43	chr11:102715020-102715070	PrEC	prostate:	n/a
44	chr11:102715020-102715070	HCPEpiC	choroid plexus:	n/a
45	chr11:102715020-102715070	HRPEpiC	eye:	n/a
46	chr11:102715020-102715070	SK-N-SH_RA	brain:	n/a
47	chr11:102715020-102715070	AG10803	skin:	n/a
48	chr11:102715020-102715070	HRE	kidney:	n/a
49	chr11:102715020-102715070	Caco-2	colon:	n/a
50	chr11:102715020-102715070	IMR90	lung:	fetal

No data

Variant related genes	Relation type
MMP3	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1144399	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs502588	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs646382	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs670653	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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	nsv898335	chr11:102682285-102866158	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs522616	YAP1	cis	parietal	SCAN
rs522616	DCUN1D5	cis	cerebellum	SCAN
rs522616	FES	trans	lymphoblastoid	seeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102711600-102715200	Weak transcription	Stomach Mucosa	stomach
2	chr11:102713800-102715200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:102714000-102715200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:102714200-102715200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:102714400-102715400	Enhancers	NHDF-Ad	bronchial
6	chr11:102714400-102716000	Enhancers	NHEK	skin
7	chr11:102714400-102716800	Weak transcription	Fetal Stomach	stomach
8	chr11:102714400-102720000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:102714400-102721600	Weak transcription	NH-A	brain
10	chr11:102714600-102716800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:102714600-102719400	Weak transcription	HMEC	breast
12	chr11:102714600-102719800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:102714600-102719800	Weak transcription	Osteobl	bone
14	chr11:102714600-102720000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:102714800-102716800	Weak transcription	Hela-S3	cervix
16	chr11:102714800-102719800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:102715000-102716400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:102715000-102719600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:102715000-102720200	Weak transcription	NHLF	lung

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