Variant report

Variant	rs56108061
Chromosome Location	chr22:22066928-22066929
allele	C/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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22066693..22068125-chr22:22306797..22308373,28	K562	blood:
2	chr22:22065172..22070463-chr22:22299725..22303847,7	K562	blood:
3	chr22:22066198..22068763-chr22:22306055..22308716,2	MCF-7	breast:
4	chr22:22066903..22068087-chr22:22326739..22327340,4	K562	blood:
5	chr22:22064353..22070160-chr22:22219719..22223588,8	K562	blood:
6	chr22:22066150..22068560-chr22:22336921..22338725,2	K562	blood:
7	chr22:22066868..22068179-chr22:22292139..22293589,10	MCF-7	breast:
8	chr22:22066653..22068423-chr22:22143403..22146205,2	K562	blood:
9	chr22:22065955..22067902-chr22:22069811..22072389,2	K562	blood:
10	chr22:22066145..22069858-chr22:22305918..22309346,5	K562	blood:
11	chr22:22059649..22068854-chr22:22288884..22299619,22	K562	blood:
12	chr22:22066887..22067735-chr22:22145858..22146732,3	K562	blood:
13	chr22:22066804..22067331-chr22:22549480..22550384,2	K562	blood:
14	chr22:22066867..22068132-chr22:22128746..22129659,4	K562	blood:
15	chr22:22065172..22068892-chr22:22301220..22303855,4	K562	blood:
16	chr22:22062971..22069839-chr22:22290687..22296640,27	K562	blood:
17	chr22:22066717..22068179-chr22:22291083..22293953,77	K562	blood:
18	chr22:22066089..22068465-chr22:22108326..22110815,2	K562	blood:
19	chr22:22066649..22069201-chr22:22080378..22082874,2	MCF-7	breast:
20	chr22:22065816..22069479-chr22:22082156..22085627,4	K562	blood:
21	chr22:22066723..22069264-chr22:22320158..22323038,2	K562	blood:
22	chr22:22065544..22067322-chr22:22204712..22206990,2	K562	blood:
23	chr22:22065133..22070504-chr22:22304213..22309346,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000211640	Chromatin interaction
ENSG00000100038	Chromatin interaction
ENSG00000100030	Chromatin interaction
ENSG00000200985	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000100034	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1045681	0.81[AMR][1000 genomes]
rs11703445	0.83[AMR][1000 genomes]
rs11705530	0.84[AMR][1000 genomes]
rs11914240	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs16997333	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1811070	0.84[AMR][1000 genomes]
rs2034570	0.84[AMR][1000 genomes]
rs2034572	0.85[AMR][1000 genomes]
rs2070504	0.81[AMR][1000 genomes]
rs2278118	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2840341	0.84[AMR][1000 genomes]
rs4821168	0.83[AMR][1000 genomes]
rs55797610	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs56387230	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62235097	0.84[AMR][1000 genomes]
rs62235098	0.84[AMR][1000 genomes]
rs62235099	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62235101	0.84[AMR][1000 genomes]
rs62235106	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7285365	1.00[ASN][1000 genomes]
rs7286619	0.84[AMR][1000 genomes]
rs7286932	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7291614	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs73149915	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs741617	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs8139619	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8142802	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs861816	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs915724	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv914468	chr22:21982892-22070489	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	365 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22044400-22067400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr22:22051400-22067400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr22:22052000-22070800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:22052200-22067600	Weak transcription	GM12878-XiMat	blood
5	chr22:22052400-22067400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr22:22052400-22067400	Weak transcription	Fetal Intestine Large	intestine
7	chr22:22053200-22067400	Weak transcription	Colon Smooth Muscle	Colon
8	chr22:22053400-22067200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr22:22053400-22067200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr22:22053400-22068200	Weak transcription	Psoas Muscle	Psoas
11	chr22:22053600-22067200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr22:22053600-22067400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr22:22053600-22067600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr22:22053600-22088800	Weak transcription	Aorta	Aorta
15	chr22:22053800-22067400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr22:22053800-22067600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr22:22054200-22067200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr22:22054200-22067200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr22:22054200-22067400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr22:22054200-22067600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr22:22054200-22067800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr22:22055800-22067400	Weak transcription	NH-A	brain
23	chr22:22056000-22067200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr22:22056000-22080800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr22:22056200-22067800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr22:22056200-22068600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr22:22056200-22069000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr22:22056400-22067200	Weak transcription	Liver	Liver
29	chr22:22056600-22068600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr22:22057400-22067200	Weak transcription	Pancreas	Pancrea
31	chr22:22057600-22067400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr22:22057800-22088400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr22:22058000-22068600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr22:22058200-22073400	Weak transcription	Lung	lung
35	chr22:22058400-22067600	Weak transcription	Right Ventricle	heart
36	chr22:22062600-22067200	Weak transcription	Left Ventricle	heart
37	chr22:22062600-22067400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr22:22062600-22067400	Weak transcription	Placenta	Placenta
39	chr22:22062800-22067200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr22:22064400-22067200	Weak transcription	A549	lung
41	chr22:22064400-22067400	Weak transcription	Fetal Kidney	kidney
42	chr22:22064400-22068400	Weak transcription	Gastric	stomach
43	chr22:22064600-22067400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr22:22064800-22067000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr22:22064800-22067200	Weak transcription	Adipose Nuclei	Adipose
46	chr22:22064800-22067200	Weak transcription	Esophagus	oesophagus
47	chr22:22064800-22067200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr22:22064800-22067200	Weak transcription	NHLF	lung
49	chr22:22064800-22067400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr22:22064800-22087400	Weak transcription	Fetal Intestine Small	intestine

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