Variant report

Variant	rs73384115
Chromosome Location	chr22:22064550-22064551
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:22064353..22070160-chr22:22219719..22223588,8	K562	blood:
2	chr22:22063723..22066195-chr22:22067309..22069488,2	MCF-7	breast:
3	chr22:22059649..22068854-chr22:22288884..22299619,22	K562	blood:
4	chr22:22063989..22066641-chr22:22279881..22281929,2	K562	blood:
5	chr22:22062971..22069839-chr22:22290687..22296640,27	K562	blood:

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

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs55671725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57627852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57847073	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58003061	1.00[EUR][1000 genomes]
rs59492453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59785257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59864261	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59916934	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5994805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73382368	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73382369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73382370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73382377	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73382382	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73382392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73382397	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73382399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73384103	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73384110	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22032200-22065200	Strong transcription	Fetal Thymus	thymus
2	chr22:22033400-22065800	Strong transcription	Thymus	Thymus
3	chr22:22034600-22065400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:22044400-22067400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr22:22045800-22066400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr22:22051400-22067400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr22:22052000-22070800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr22:22052200-22067600	Weak transcription	GM12878-XiMat	blood
9	chr22:22052400-22067400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr22:22052400-22067400	Weak transcription	Fetal Intestine Large	intestine
11	chr22:22053200-22067400	Weak transcription	Colon Smooth Muscle	Colon
12	chr22:22053400-22066000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr22:22053400-22067200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr22:22053400-22067200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr22:22053400-22068200	Weak transcription	Psoas Muscle	Psoas
16	chr22:22053600-22065600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:22053600-22067200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr22:22053600-22067400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr22:22053600-22067600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr22:22053600-22088800	Weak transcription	Aorta	Aorta
21	chr22:22053800-22065800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr22:22053800-22067400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr22:22053800-22067600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr22:22054200-22067200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr22:22054200-22067200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr22:22054200-22067400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr22:22054200-22067600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr22:22054200-22067800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr22:22054600-22066400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr22:22055200-22066600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr22:22055800-22067400	Weak transcription	NH-A	brain
32	chr22:22056000-22067200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr22:22056000-22080800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr22:22056200-22067800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr22:22056200-22068600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr22:22056200-22069000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr22:22056400-22067200	Weak transcription	Liver	Liver
38	chr22:22056600-22068600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr22:22057000-22066800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr22:22057400-22067200	Weak transcription	Pancreas	Pancrea
41	chr22:22057600-22067400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr22:22057800-22088400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr22:22058000-22066600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr22:22058000-22068600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr22:22058200-22073400	Weak transcription	Lung	lung
46	chr22:22058400-22067600	Weak transcription	Right Ventricle	heart
47	chr22:22059600-22065000	Strong transcription	Primary B cells from cord blood	blood
48	chr22:22060600-22065200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr22:22061400-22065200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr22:22061600-22065000	Strong transcription	Primary B cells from peripheral blood	blood

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