Variant report

Variant	rs439760
Chromosome Location	chr22:22003050-22003051
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	POLR2A	chr22:22002106-22008893	K562	blood:	n/a	n/a
2	POLR2A	chr22:22002751-22003103	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:22001170..22003842-chr22:22303847..22305574,2	K562	blood:

Variant related genes	Relation type
MIR130B	TF binding region
PPIL2	TF binding region
MIR301B	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1210397	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs373001	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs388371	0.91[ASN][1000 genomes]
rs403642	0.91[ASN][1000 genomes]
rs446142	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs447001	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs449597	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs450469	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs861836	0.92[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	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	nsv482690	chr22:21807513-22016791	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv914464	chr22:21964761-22039863	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
10	nsv914465	chr22:21964761-22055280	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
11	nsv914466	chr22:21964761-22057273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
12	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
13	nsv914467	chr22:21982892-22055280	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
14	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
15	nsv914469	chr22:21985094-22010918	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
16	esv3456722	chr22:21993383-22019246	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 gene(s)	inside rSNPs	diseases
17	esv3456723	chr22:21993399-22019258	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21997200-22005600	Weak transcription	Small Intestine	intestine
2	chr22:21997400-22005000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:21997400-22005200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:21997600-22005400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr22:21997600-22005600	Weak transcription	Aorta	Aorta
6	chr22:21997800-22003800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr22:21997800-22004800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr22:21997800-22005200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr22:21997800-22005200	Weak transcription	Fetal Lung	lung
10	chr22:21997800-22005200	Weak transcription	Psoas Muscle	Psoas
11	chr22:21998000-22003200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr22:21998000-22003400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr22:21998000-22004800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr22:21998000-22005000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr22:21998000-22005000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr22:21998000-22005000	Weak transcription	Fetal Heart	heart
17	chr22:21998000-22005000	Strong transcription	Fetal Intestine Small	intestine
18	chr22:21998000-22005200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:21998000-22005200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr22:21998000-22005200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr22:21998000-22005200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr22:21998000-22005200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr22:21998000-22005200	Weak transcription	Fetal Brain Male	brain
24	chr22:21998000-22005200	Weak transcription	Fetal Brain Female	brain
25	chr22:21998000-22005200	Weak transcription	Fetal Kidney	kidney
26	chr22:21998000-22005200	Weak transcription	HSMMtube	muscle
27	chr22:21998000-22005400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr22:21998000-22005400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr22:21998000-22005400	Weak transcription	A549	lung
30	chr22:21998000-22005600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr22:21998000-22005600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr22:21998200-22003800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr22:21998200-22004000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr22:21998200-22004400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr22:21998200-22004600	Strong transcription	Fetal Stomach	stomach
36	chr22:21998200-22004800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr22:21998200-22005800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr22:21998200-22006000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr22:21998400-22003200	Weak transcription	Osteobl	bone
40	chr22:21998400-22004000	Strong transcription	Thymus	Thymus
41	chr22:21998400-22004200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr22:21998400-22005000	Weak transcription	HSMM	muscle
43	chr22:21998400-22005200	Weak transcription	NH-A	brain
44	chr22:21998400-22005200	Weak transcription	NHDF-Ad	bronchial
45	chr22:21998400-22005400	Weak transcription	Colonic Mucosa	Colon
46	chr22:21998400-22005600	Weak transcription	Hela-S3	cervix
47	chr22:21998600-22003200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr22:21998600-22003600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr22:21998600-22005200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr22:21998600-22005200	Weak transcription	H9 Cell Line	embryonic stem cell

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