Variant report

Variant	rs62046563
Chromosome Location	chr16:81531028-81531029
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81476822..81479616-chr16:81528551..81531319,2	MCF-7	breast:
2	chr16:81506233..81509171-chr16:81529935..81531469,2	MCF-7	breast:
3	chr16:81478427..81480375-chr16:81529465..81532019,2	MCF-7	breast:
4	chr16:81515811..81518675-chr16:81530848..81533048,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12445748	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12598928	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16955462	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2927321	0.82[EUR][1000 genomes]
rs2927326	0.87[AMR][1000 genomes]
rs2927329	0.89[AMR][1000 genomes]
rs2927330	0.89[AMR][1000 genomes]
rs2927332	0.89[AMR][1000 genomes]
rs2927334	0.89[AMR][1000 genomes]
rs55932963	0.81[ASN][1000 genomes]
rs56000269	0.83[EUR][1000 genomes]
rs57078137	0.83[EUR][1000 genomes]
rs59803316	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62046562	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv907010	chr16:81488893-81534790	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1057791	chr16:81515036-81644651	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv542993	chr16:81515036-81644651	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv457576	chr16:81525637-81579433	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
8	nsv573360	chr16:81525637-81579433	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81506000-81546600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:81506600-81547000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:81510400-81533200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr16:81515200-81531600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr16:81515200-81532600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr16:81517400-81531600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr16:81519600-81532000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr16:81520400-81532200	Enhancers	Spleen	Spleen
9	chr16:81522400-81537000	Enhancers	HUVEC	blood vessel
10	chr16:81522600-81532200	Enhancers	Fetal Muscle Trunk	muscle
11	chr16:81523600-81531800	Enhancers	Stomach Mucosa	stomach
12	chr16:81524400-81531200	Enhancers	Duodenum Mucosa	Duodenum
13	chr16:81524400-81533800	Enhancers	Liver	Liver
14	chr16:81524600-81532200	Enhancers	Pancreas	Pancrea
15	chr16:81524800-81532200	Genic enhancers	Fetal Intestine Small	intestine
16	chr16:81525200-81536000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr16:81525400-81554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr16:81526000-81531800	Enhancers	Lung	lung
19	chr16:81526000-81533200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr16:81526800-81531600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr16:81526800-81534800	Enhancers	Primary hematopoietic stem cells	blood
22	chr16:81527200-81532400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr16:81527200-81534600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr16:81527200-81534800	Enhancers	Primary T cells fromperipheralblood	blood
25	chr16:81527200-81536000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:81527400-81531600	Enhancers	Fetal Muscle Leg	muscle
27	chr16:81527400-81532600	Enhancers	Primary B cells from cord blood	blood
28	chr16:81527400-81532800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr16:81527400-81533600	Weak transcription	HSMM	muscle
30	chr16:81527400-81535200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr16:81527400-81544000	Genic enhancers	A549	lung
32	chr16:81527600-81535000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr16:81527800-81531200	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr16:81527800-81531400	Enhancers	Brain Hippocampus Middle	brain
35	chr16:81527800-81532800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr16:81527800-81538400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr16:81527800-81546600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr16:81527800-81546600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr16:81528000-81532400	Strong transcription	HepG2	liver
40	chr16:81528000-81534200	Weak transcription	Osteobl	bone
41	chr16:81528200-81531400	Enhancers	Colonic Mucosa	Colon
42	chr16:81528200-81531800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr16:81528200-81532800	Weak transcription	NHDF-Ad	bronchial
44	chr16:81528200-81534200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr16:81528200-81547000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr16:81528400-81533800	Strong transcription	Fetal Stomach	stomach
47	chr16:81528400-81534400	Weak transcription	NH-A	brain
48	chr16:81528600-81532200	Weak transcription	Brain Germinal Matrix	brain
49	chr16:81528800-81533400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr16:81528800-81534400	Enhancers	Primary B cells from peripheral blood	blood

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