Variant report

Variant	rs6518951
Chromosome Location	chr22:22126573-22126574
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:22125876-22127527	K562	blood:	n/a	n/a
2	POLR2A	chr22:22125836-22127544	K562	blood:	n/a	n/a
3	POLR2A	chr22:22125601-22127531	K562	blood:	n/a	n/a
4	POLR2A	chr22:22126436-22127573	K562	blood:	n/a	n/a
5	POLR2A	chr22:22126552-22126928	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr22:22126479-22126829	H1-neurons	neurons:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22122532..22127617-chr22:22219162..22223701,7	K562	blood:
2	chr22:22125989..22128190-chr22:22174019..22176581,2	K562	blood:
3	chr22:22124761..22127250-chr22:22218552..22220662,2	K562	blood:
4	chr22:22125720..22128636-chr22:22161159..22162923,2	K562	blood:

No data

Variant related genes	Relation type
MAPK1	TF binding region
ENSG00000100030	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11490038	0.91[ASN][1000 genomes]
rs2070505	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2876981	0.87[ASN][1000 genomes]
rs28803281	0.93[ASN][1000 genomes]
rs3810606	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3810608	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61763392	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62235142	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62235144	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62235145	0.87[ASN][1000 genomes]
rs62235148	0.87[ASN][1000 genomes]
rs62235149	0.87[ASN][1000 genomes]
rs7292584	0.96[ASN][1000 genomes]
rs9607272	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9610216	0.93[ASN][1000 genomes]
rs9610271	0.96[ASN][1000 genomes]
rs9610294	0.84[EUR][1000 genomes]
rs9610386	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9610417	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9610470	0.89[ASN][1000 genomes]
rs9610487	0.89[ASN][1000 genomes]
rs9610496	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
2	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
3	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
4	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
5	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
6	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
7	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
8	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv510804	chr22:22024531-22132764	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1066964	chr22:22055123-22228745	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv544604	chr22:22055123-22228745	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv1063134	chr22:22067645-22129322	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv544605	chr22:22067645-22129322	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	esv3423141	chr22:22074283-22135439	Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Weak transcription 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 target site	16 gene(s)	inside rSNPs	diseases
15	nsv1060548	chr22:22079163-22126826	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	nsv588322	chr22:22086373-22186479	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
17	nsv948580	chr22:22100718-22839559	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6518951	TOP3BP1	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22110600-22128400	Strong transcription	Fetal Muscle Trunk	muscle
2	chr22:22110600-22150600	Weak transcription	Fetal Heart	heart
3	chr22:22110800-22126600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr22:22111000-22127000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr22:22111000-22128600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr22:22111000-22128600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr22:22111200-22129200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr22:22111400-22126800	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr22:22111400-22128600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr22:22112400-22136800	Strong transcription	Dnd41	blood
11	chr22:22112600-22128200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr22:22112800-22126600	Strong transcription	Adipose Nuclei	Adipose
13	chr22:22112800-22127400	Strong transcription	Fetal Brain Female	brain
14	chr22:22112800-22127600	Strong transcription	Fetal Intestine Large	intestine
15	chr22:22112800-22128800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:22112800-22128800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr22:22113400-22163800	Weak transcription	Right Atrium	heart
18	chr22:22113600-22128600	Strong transcription	HUVEC	blood vessel
19	chr22:22113600-22133200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:22114200-22127200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr22:22114200-22128400	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr22:22114200-22172800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr22:22114400-22128600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr22:22114400-22128600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr22:22114800-22127400	Strong transcription	Liver	Liver
26	chr22:22114800-22127400	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr22:22115000-22127200	Strong transcription	Colon Smooth Muscle	Colon
28	chr22:22115200-22127200	Strong transcription	Placenta Amnion	Placenta Amnion
29	chr22:22115200-22128800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr22:22115400-22126800	Strong transcription	Lung	lung
31	chr22:22115400-22127400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr22:22115400-22127400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr22:22115400-22127600	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr22:22115600-22126800	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr22:22115600-22127400	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr22:22115600-22127400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr22:22115600-22128600	Strong transcription	Fetal Stomach	stomach
38	chr22:22115800-22127400	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr22:22116000-22127600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr22:22116000-22127600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr22:22116000-22128600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr22:22116000-22132800	Strong transcription	K562	blood
43	chr22:22116200-22128600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr22:22116200-22128800	Strong transcription	Fetal Intestine Small	intestine
45	chr22:22116400-22128200	Strong transcription	Osteobl	bone
46	chr22:22116600-22129000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr22:22116600-22129400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr22:22117000-22128600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr22:22117400-22127400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr22:22117800-22127200	Strong transcription	Right Ventricle	heart

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