Variant report

Variant	rs62043925
Chromosome Location	chr16:81481256-81481257
allele	A/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81480566..81483421-chr16:81511394..81514320,4	MCF-7	breast:
2	chr16:81480768..81483026-chr16:81506735..81508794,2	MCF-7	breast:
3	chr16:81480171..81484417-chr16:81492553..81495426,4	MCF-7	breast:
4	chr16:81347539..81350872-chr16:81478035..81482618,4	MCF-7	breast:
5	chr16:81479233..81481383-chr16:81669168..81671118,2	MCF-7	breast:
6	chr16:81273374..81275112-chr16:81481220..81483509,2	MCF-7	breast:
7	chr16:81480040..81482006-chr16:81671001..81673698,2	K562	blood:
8	chr16:81480210..81481743-chr16:81584414..81586701,2	K562	blood:
9	chr16:81480285..81482687-chr16:81557234..81559498,2	K562	blood:
10	chr16:81479204..81482002-chr16:81562835..81564936,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261609	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2317238	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs310007	0.81[ASN][1000 genomes]
rs310008	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs310010	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60193157	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62043926	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7193107	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9923364	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	esv34108	chr16:81469090-81510471	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81477600-81481800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr16:81477800-81481600	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr16:81478800-81481400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:81478800-81481400	Active TSS	Fetal Kidney	kidney
5	chr16:81479000-81481400	Bivalent/Poised TSS	HepG2	liver
6	chr16:81479000-81481600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr16:81479000-81482000	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr16:81479400-81481400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr16:81479400-81481400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr16:81479400-81481600	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr16:81479400-81481600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr16:81479400-81481600	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr16:81479600-81481800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr16:81479600-81482200	Flanking Active TSS	Hela-S3	cervix
15	chr16:81479600-81482400	Flanking Active TSS	K562	blood
16	chr16:81479600-81482600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr16:81480000-81481400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr16:81480000-81481600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr16:81480000-81482000	Enhancers	Fetal Heart	heart
20	chr16:81480000-81482200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr16:81480200-81481400	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr16:81480200-81481400	Flanking Active TSS	Fetal Brain Male	brain
23	chr16:81480200-81481400	Flanking Active TSS	NH-A	brain
24	chr16:81480200-81481600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr16:81480200-81481600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr16:81480200-81481600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr16:81480200-81481600	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr16:81480200-81481600	Flanking Active TSS	HUVEC	blood vessel
29	chr16:81480200-81482000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr16:81480200-81482800	Flanking Active TSS	Liver	Liver
31	chr16:81480400-81482600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr16:81480400-81482600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr16:81480400-81482600	Enhancers	Spleen	Spleen
34	chr16:81480400-81482800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr16:81480600-81481400	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr16:81480600-81481400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr16:81480600-81481400	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr16:81480600-81481600	Flanking Active TSS	Placenta	Placenta
39	chr16:81480600-81482800	Enhancers	Brain Substantia Nigra	brain
40	chr16:81480600-81483200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr16:81480600-81483200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr16:81480600-81483200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr16:81480600-81486400	Enhancers	Small Intestine	intestine
44	chr16:81480600-81487200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr16:81480600-81487600	Transcr. at gene 5' and 3'	A549	lung
46	chr16:81480800-81481400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr16:81480800-81481400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr16:81480800-81481400	Weak transcription	Ovary	ovary
49	chr16:81480800-81481600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr16:81480800-81481600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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