Variant report

Variant	rs62016853
Chromosome Location	chr15:73458455-73458456
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr15:73458419-73458559	MCF10A-Er-Src	breast:	n/a	n/a
2	CBX3	chr15:73458231-73458590	K562	blood:	n/a	n/a
3	TRIM28	chr15:73458203-73458590	K562	blood:	n/a	n/a
4	SETDB1	chr15:73458065-73458829	U2OS	brain:	n/a	n/a
5	KAP1	chr15:73458103-73458643	HEK293	kidney:	n/a	n/a
6	GATA2	chr15:73458134-73458477	K562	blood:	n/a	n/a
7	TAL1	chr15:73458172-73458538	K562	blood:	n/a	n/a
8	KAP1	chr15:73458188-73458825	K562	blood:	n/a	n/a
9	CBX3	chr15:73458274-73458626	K562	blood:	n/a	n/a
10	GATA1	chr15:73458027-73458762	PBDE	blood:	n/a	n/a

Variant related genes	Relation type
NPM1P43	TF binding region

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1023924	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1038137	0.87[ASN][1000 genomes]
rs10467948	0.84[ASN][1000 genomes]
rs11072403	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11072406	0.89[ASN][1000 genomes]
rs1116880	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11634084	0.82[EUR][1000 genomes]
rs11634147	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12050658	0.88[EUR][1000 genomes]
rs12050685	0.88[EUR][1000 genomes]
rs12050774	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12902768	0.88[ASN][1000 genomes]
rs1479338	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1479339	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1479340	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1564345	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17762516	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17762600	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17829830	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17829836	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17829957	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1812835	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1871385	0.85[ASN][1000 genomes]
rs2127277	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2169951	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2415147	0.84[ASN][1000 genomes]
rs2415148	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2899784	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34013312	0.80[ASN][1000 genomes]
rs35450875	0.84[ASN][1000 genomes]
rs3736510	0.84[ASN][1000 genomes]
rs3784801	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3985587	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3985588	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4545783	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4777590	0.82[ASN][1000 genomes]
rs4777598	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55646651	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55836604	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55853625	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55868723	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55925663	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55939596	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56215298	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56269104	0.84[ASN][1000 genomes]
rs56348595	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56377702	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58060856	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59066156	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62015460	0.92[EUR][1000 genomes]
rs62015484	0.85[EUR][1000 genomes]
rs62015499	0.84[EUR][1000 genomes]
rs62015500	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62015502	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62015504	0.82[EUR][1000 genomes]
rs62016806	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62016809	0.84[ASN][1000 genomes]
rs62016811	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62016814	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62016849	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62016851	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62016854	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62016856	0.94[EUR][1000 genomes]
rs62016857	0.88[EUR][1000 genomes]
rs62016858	0.93[EUR][1000 genomes]
rs62017774	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62017776	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7169083	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7172021	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7172396	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74022925	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74025262	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs747872	0.85[ASN][1000 genomes]
rs747873	0.85[ASN][1000 genomes]
rs7497992	0.88[EUR][1000 genomes]
rs8024575	0.89[ASN][1000 genomes]
rs8026121	0.80[ASN][1000 genomes]
rs8035925	0.80[ASN][1000 genomes]
rs8042700	0.89[ASN][1000 genomes]
rs9806496	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9972347	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904338	chr15:73313691-73483718	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv517966	chr15:73349633-73488753	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv525462	chr15:73349633-73563495	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv904339	chr15:73375847-73483718	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv904340	chr15:73375847-73524629	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv904341	chr15:73390790-73483718	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv904342	chr15:73390790-73524629	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv904343	chr15:73396760-73775043	Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv527236	chr15:73421239-73469535	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73401400-73480200	Weak transcription	Right Ventricle	heart
2	chr15:73430200-73466600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:73447200-73470000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr15:73448000-73469000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr15:73449200-73469000	Weak transcription	Ovary	ovary
6	chr15:73449400-73466600	Weak transcription	Brain Anterior Caudate	brain
7	chr15:73450000-73475400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:73450000-73477400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr15:73452200-73461200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr15:73452200-73470000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:73454600-73483000	Weak transcription	Colon Smooth Muscle	Colon
12	chr15:73454800-73466600	Weak transcription	Aorta	Aorta
13	chr15:73454800-73471600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr15:73455000-73473800	Weak transcription	Fetal Stomach	stomach
15	chr15:73455200-73500400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr15:73455400-73466600	Weak transcription	Brain Hippocampus Middle	brain
17	chr15:73455400-73466600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr15:73455800-73460600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr15:73456600-73459000	Strong transcription	Fetal Kidney	kidney
20	chr15:73456600-73459200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:73457000-73459200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:73457400-73459200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr15:73457400-73461000	Strong transcription	Fetal Intestine Large	intestine
24	chr15:73457600-73459400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:73457600-73470600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr15:73457800-73459000	Enhancers	HepG2	liver
27	chr15:73457800-73459200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr15:73457800-73459200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr15:73457800-73459200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:73457800-73459200	ZNF genes & repeats	Brain Germinal Matrix	brain
31	chr15:73457800-73459400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr15:73458000-73458600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr15:73458000-73458800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:73458000-73458800	Strong transcription	Brain Angular Gyrus	brain
35	chr15:73458000-73458800	ZNF genes & repeats	HMEC	breast
36	chr15:73458000-73458800	Enhancers	NHEK	skin
37	chr15:73458000-73459000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
38	chr15:73458000-73459000	ZNF genes & repeats	Fetal Lung	lung
39	chr15:73458000-73459200	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr15:73458200-73458600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
41	chr15:73458200-73458600	ZNF genes & repeats	Colonic Mucosa	Colon
42	chr15:73458200-73458800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr15:73458200-73459000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
44	chr15:73458200-73459000	ZNF genes & repeats	Liver	Liver
45	chr15:73458200-73459200	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr15:73458200-73459200	ZNF genes & repeats	A549	lung
47	chr15:73458200-73459800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr15:73458400-73458600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
49	chr15:73458400-73458800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:73458400-73458800	ZNF genes & repeats	Fetal Muscle Leg	muscle

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