Variant report

Variant	rs4552040
Chromosome Location	chr16:80500519-80500520
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80311039..80311733-chr16:80500002..80500951,2	K562	blood:
2	chr16:80499995..80500569-chr16:80982485..80983045,2	MCF-7	breast:
3	chr16:78537073..78538321-chr16:80500168..80500870,3	MCF-7	breast:
4	chr16:80495879..80497942-chr16:80499156..80500860,2	MCF-7	breast:
5	chr16:79635755..79636630-chr16:80499976..80500798,3	MCF-7	breast:
6	chr16:78958645..78959367-chr16:80500008..80500879,3	MCF-7	breast:
7	chr16:80310620..80311639-chr16:80499983..80500837,3	MCF-7	breast:
8	chr16:80118484..80119338-chr16:80499839..80500773,2	MCF-7	breast:
9	chr16:79801259..79803185-chr16:80498981..80501432,2	MCF-7	breast:
10	chr16:80030961..80031815-chr16:80499963..80500752,4	MCF-7	breast:
11	chr16:80496269..80498970-chr16:80500227..80504531,3	K562	blood:

No data

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10514499	0.87[AMR][1000 genomes]
rs11150284	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11150285	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12325491	0.84[AMR][1000 genomes]
rs1825390	0.84[AMR][1000 genomes]
rs4396552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56278554	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60159907	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7190998	0.84[AMR][1000 genomes]
rs7194714	0.84[AMR][1000 genomes]
rs8055649	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8056563	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061068	chr16:80207546-80537052	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2762333	chr16:80307755-80509983	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv833299	chr16:80341745-80549683	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv907001	chr16:80405292-80620611	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv510692	chr16:80432497-80503607	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1055975	chr16:80437861-80513030	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv907002	chr16:80441420-80510943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2751614	chr16:80459551-80511649	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv833300	chr16:80475066-80601036	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1061099	chr16:80488917-80503223	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1063620	chr16:80489718-80503223	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv457558	chr16:80490131-80503421	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv573298	chr16:80490131-80503421	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv573299	chr16:80493705-80503421	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv457559	chr16:80498094-80507621	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv573300	chr16:80498094-80507621	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4552040	DYNLRB2	cis	parietal	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80492400-80502600	Enhancers	Liver	Liver
2	chr16:80495000-80501200	Enhancers	Fetal Intestine Large	intestine
3	chr16:80495400-80500600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr16:80495800-80500800	Enhancers	Fetal Intestine Small	intestine
5	chr16:80498200-80500600	Weak transcription	Fetal Kidney	kidney
6	chr16:80499400-80500800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:80499600-80500800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:80499800-80500600	Flanking Active TSS	HepG2	liver
9	chr16:80499800-80500800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr16:80499800-80500800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr16:80499800-80500800	Enhancers	Brain Germinal Matrix	brain
12	chr16:80499800-80501000	Enhancers	GM12878-XiMat	blood
13	chr16:80499800-80501200	Enhancers	Primary B cells from peripheral blood	blood
14	chr16:80500000-80500600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr16:80500000-80500800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr16:80500000-80500800	Enhancers	Adipose Nuclei	Adipose
17	chr16:80500000-80500800	Enhancers	Brain Anterior Caudate	brain
18	chr16:80500000-80500800	Enhancers	Stomach Mucosa	stomach
19	chr16:80500200-80500600	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr16:80500200-80500600	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr16:80500200-80500600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr16:80500200-80500600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr16:80500200-80500600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr16:80500200-80500600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr16:80500200-80500600	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr16:80500200-80500600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr16:80500200-80500600	Enhancers	Dnd41	blood
28	chr16:80500200-80500600	Active TSS	Hela-S3	cervix
29	chr16:80500200-80500600	Enhancers	NHEK	skin
30	chr16:80500200-80500600	Flanking Active TSS	Osteobl	bone
31	chr16:80500200-80500800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr16:80500200-80500800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:80500200-80500800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr16:80500200-80500800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr16:80500200-80500800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr16:80500200-80500800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr16:80500200-80500800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr16:80500200-80500800	Enhancers	Brain Angular Gyrus	brain
39	chr16:80500200-80500800	Enhancers	Brain Substantia Nigra	brain
40	chr16:80500200-80500800	Enhancers	Colon Smooth Muscle	Colon
41	chr16:80500200-80500800	Enhancers	Duodenum Mucosa	Duodenum
42	chr16:80500200-80500800	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr16:80500200-80500800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr16:80500200-80500800	Enhancers	Fetal Muscle Trunk	muscle
45	chr16:80500200-80500800	Enhancers	Fetal Muscle Leg	muscle
46	chr16:80500200-80500800	Enhancers	Placenta	Placenta
47	chr16:80500200-80500800	Enhancers	Fetal Stomach	stomach
48	chr16:80500200-80500800	Enhancers	Ovary	ovary
49	chr16:80500200-80500800	Enhancers	Pancreas	Pancrea
50	chr16:80500200-80500800	Enhancers	Rectal Mucosa Donor 29	rectum

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