Variant report

Variant	rs4076091
Chromosome Location	chr16:30431429-30431430
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30431386-30432070	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr16:30429888-30432822	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:30431364-30432586	PANC-1	pancreas:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30429086..30431594-chr16:30439120..30441728,2	MCF-7	breast:
2	chr16:30427757..30432109-chr16:30437396..30442167,10	MCF-7	breast:
3	chr16:30430091..30432882-chr16:30536696..30538204,2	K562	blood:
4	chr16:30427799..30431834-chr16:30534294..30540593,7	MCF-7	breast:
5	chr16:30364489..30367608-chr16:30429426..30432189,3	K562	blood:
6	chr16:30430091..30431864-chr16:30536696..30538449,2	K562	blood:
7	chr16:30428007..30431562-chr16:30708422..30711318,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000199787	TF binding region
ENSG00000080603	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000260219	Chromatin interaction
ENSG00000169217	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000169957	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs17839551	0.86[AMR][1000 genomes]
rs3766	0.86[AMR][1000 genomes]
rs4788412	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56353063	0.85[AMR][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	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
2	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
3	nsv1056897	chr16:30363683-30457504	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
4	nsv905724	chr16:30368591-30438930	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
6	esv3394301	chr16:30426951-30431549	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4076091	YPEL3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30421200-30437600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:30421200-30437600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr16:30428800-30440200	Weak transcription	Fetal Heart	heart
4	chr16:30429200-30435000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:30429600-30440200	Weak transcription	NHDF-Ad	bronchial
6	chr16:30429800-30431800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr16:30429800-30431800	Weak transcription	HSMM	muscle
8	chr16:30429800-30431800	Weak transcription	Osteobl	bone
9	chr16:30429800-30432000	Weak transcription	Left Ventricle	heart
10	chr16:30429800-30432400	Weak transcription	Aorta	Aorta
11	chr16:30429800-30432800	Weak transcription	Lung	lung
12	chr16:30429800-30433200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:30429800-30433200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr16:30429800-30433400	Weak transcription	NHLF	lung
15	chr16:30429800-30433800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr16:30429800-30434800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr16:30429800-30434800	Weak transcription	Ovary	ovary
18	chr16:30429800-30435000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr16:30429800-30435400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr16:30429800-30440200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr16:30429800-30440200	Weak transcription	Fetal Kidney	kidney
22	chr16:30429800-30440200	Weak transcription	HSMMtube	muscle
23	chr16:30429800-30440400	Weak transcription	Right Atrium	heart
24	chr16:30430000-30431600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr16:30430000-30431600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr16:30430000-30431600	Weak transcription	Fetal Intestine Large	intestine
27	chr16:30430000-30431600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr16:30430000-30431600	Weak transcription	Right Ventricle	heart
29	chr16:30430000-30431600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr16:30430000-30431600	Weak transcription	Spleen	Spleen
31	chr16:30430000-30431800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr16:30430000-30431800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr16:30430000-30432000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr16:30430000-30432600	Weak transcription	Adipose Nuclei	Adipose
35	chr16:30430000-30433200	Weak transcription	Fetal Lung	lung
36	chr16:30430000-30433400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr16:30430000-30433400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr16:30430000-30433400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr16:30430000-30433400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr16:30430000-30433400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr16:30430000-30433400	Weak transcription	Brain Germinal Matrix	brain
42	chr16:30430000-30433400	Weak transcription	Brain Hippocampus Middle	brain
43	chr16:30430000-30434000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr16:30430000-30434800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr16:30430000-30434800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr16:30430000-30435000	Weak transcription	Brain Angular Gyrus	brain
47	chr16:30430000-30435000	Weak transcription	NH-A	brain
48	chr16:30430000-30435200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr16:30430000-30437200	Weak transcription	Brain Substantia Nigra	brain
50	chr16:30430000-30439400	Weak transcription	Fetal Brain Male	brain

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