Variant report

Variant	rs3810608
Chromosome Location	chr22:22112794-22112795
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:21978078..21980405-chr22:22112761..22114851,2	K562	blood:
2	chr22:22105462..22113416-chr22:22219449..22224505,14	K562	blood:
3	chr22:22111218..22112797-chr22:22262465..22264445,2	K562	blood:
4	chr22:22112086..22114615-chr22:22292655..22295451,3	K562	blood:
5	chr22:22112784..22115685-chr22:22327730..22329805,2	K562	blood:
6	chr22:22112619..22115133-chr22:22299104..22302068,3	K562	blood:
7	chr22:22104264..22113416-chr22:22217620..22224505,20	K562	blood:

Variant related genes	Relation type
ENSG00000100034	Chromatin interaction
ENSG00000100030	Chromatin interaction
ENSG00000224086	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11490038	0.89[ASN][1000 genomes]
rs2070505	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2876981	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs28803281	0.91[ASN][1000 genomes]
rs3810606	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61763392	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62235142	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62235144	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62235145	0.85[ASN][1000 genomes]
rs62235148	0.85[ASN][1000 genomes]
rs62235149	0.85[ASN][1000 genomes]
rs6518951	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7292584	0.98[ASN][1000 genomes]
rs9607272	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9610216	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs9610271	0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9610294	0.84[EUR][1000 genomes]
rs9610386	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9610417	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9610470	0.87[ASN][1000 genomes]
rs9610487	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9610496	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv531549	chr22:22082380-22116681	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
17	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
18	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
rs3810608	TOP3BP1	cis	Muscle Skeletal	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22090800-22115800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr22:22091000-22116600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr22:22092800-22115400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr22:22098400-22117400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr22:22103000-22115400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr22:22105800-22118000	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr22:22109200-22115200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr22:22109400-22125800	Weak transcription	Small Intestine	intestine
9	chr22:22109600-22112800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:22109800-22112800	Weak transcription	Fetal Brain Female	brain
11	chr22:22109800-22114400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr22:22109800-22115000	Weak transcription	Colon Smooth Muscle	Colon
13	chr22:22109800-22115400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr22:22109800-22115600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:22109800-22117000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr22:22110000-22113400	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr22:22110000-22113600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr22:22110000-22117200	Weak transcription	Psoas Muscle	Psoas
19	chr22:22110200-22113000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr22:22110200-22122600	Weak transcription	Fetal Brain Male	brain
21	chr22:22110400-22112800	Weak transcription	Adipose Nuclei	Adipose
22	chr22:22110400-22112800	Weak transcription	Fetal Intestine Large	intestine
23	chr22:22110400-22112800	Weak transcription	Gastric	stomach
24	chr22:22110400-22112800	Weak transcription	Right Atrium	heart
25	chr22:22110400-22113000	Weak transcription	HMEC	breast
26	chr22:22110400-22114200	Strong transcription	Right Ventricle	heart
27	chr22:22110400-22117400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr22:22110400-22123600	Strong transcription	Primary B cells from cord blood	blood
29	chr22:22110600-22112800	Genic enhancers	Fetal Muscle Leg	muscle
30	chr22:22110600-22113800	Strong transcription	A549	lung
31	chr22:22110600-22126000	Weak transcription	Stomach Mucosa	stomach
32	chr22:22110600-22128400	Strong transcription	Fetal Muscle Trunk	muscle
33	chr22:22110600-22150600	Weak transcription	Fetal Heart	heart
34	chr22:22110800-22113200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr22:22110800-22113400	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr22:22110800-22113600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr22:22110800-22114200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr22:22110800-22115000	Weak transcription	HepG2	liver
39	chr22:22110800-22115000	Weak transcription	NHDF-Ad	bronchial
40	chr22:22110800-22115400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr22:22110800-22116000	Weak transcription	NHEK	skin
42	chr22:22110800-22117000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr22:22110800-22119400	Weak transcription	Hela-S3	cervix
44	chr22:22110800-22120800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr22:22110800-22121800	Strong transcription	Thymus	Thymus
46	chr22:22110800-22126600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr22:22111000-22112800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr22:22111000-22112800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr22:22111000-22116800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr22:22111000-22118000	Strong transcription	Fetal Thymus	thymus

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