Variant report

Variant	rs901790
Chromosome Location	chr22:20311453-20311454
allele	C/T
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	FOS	chr22:20311185-20311731	MCF10A-Er-Src	breast:	n/a	chr22:20311603-20311615 chr22:20311604-20311614 chr22:20311605-20311613 chr22:20311604-20311614 chr22:20311601-20311612
2	FOS	chr22:20311436-20311767	MCF10A-Er-Src	breast:	n/a	chr22:20311603-20311615 chr22:20311604-20311614 chr22:20311605-20311613 chr22:20311604-20311614 chr22:20311601-20311612
3	MAFK	chr22:20311069-20311970	IMR90	lung:	n/a	chr22:20311239-20311248 chr22:20311239-20311249
4	FOS	chr22:20311237-20311767	MCF10A-Er-Src	breast:	n/a	chr22:20311603-20311615 chr22:20311604-20311614 chr22:20311605-20311613 chr22:20311604-20311614 chr22:20311601-20311612
5	POLR2A	chr22:20310793-20312046	U87	brain:	n/a	n/a
6	CBX3	chr22:20310916-20312037	K562	blood:	n/a	n/a
7	POLR2A	chr22:20310793-20312087	U87	brain:	n/a	n/a
8	POLR2A	chr22:20310799-20312032	U87	brain:	n/a	n/a
9	POLR2A	chr22:20306432-20313022	K562	blood:	n/a	n/a
10	POLR2A	chr22:20310982-20312044	U87	brain:	n/a	n/a
11	MAZ	chr22:20311004-20312085	IMR90	lung:	n/a	chr22:20311074-20311084
12	FOS	chr22:20311232-20311773	MCF10A-Er-Src	breast:	n/a	chr22:20311603-20311615 chr22:20311604-20311614 chr22:20311605-20311613 chr22:20311604-20311614 chr22:20311601-20311612

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:20304415..20312117-chr22:20747096..20751443,9	MCF-7	breast:
2	chr22:20310368..20313207-chr22:20800660..20802484,2	K562	blood:

Variant related genes	Relation type
DGCR6L	TF binding region
ENSG00000099910	Chromatin interaction
ENSG00000185252	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1210828	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1210829	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12627754	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1792516	chr22:19578312-20314496	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	195 gene(s)	inside rSNPs	diseases
2	esv1818018	chr22:19674772-20313261	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	193 gene(s)	inside rSNPs	diseases
3	nsv828938	chr22:19678592-20311988	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	192 gene(s)	inside rSNPs	diseases
4	nsv828939	chr22:19683555-20311988	Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	192 gene(s)	inside rSNPs	diseases
5	esv1826873	chr22:19726464-20313261	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
6	nsv828950	chr22:20057967-20311988	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	esv1793574	chr22:20075870-20728868	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
8	nsv914332	chr22:20082961-20339310	Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers 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	57 gene(s)	inside rSNPs	diseases
9	nsv914337	chr22:20087539-20330895	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
10	esv1832132	chr22:20089802-20728868	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
11	nsv1061349	chr22:20091394-20734304	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
12	esv1804395	chr22:20093565-20485443	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription 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	69 gene(s)	inside rSNPs	diseases
13	esv1850291	chr22:20093565-20666528	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
14	esv1824760	chr22:20093565-20728868	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription 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	77 gene(s)	inside rSNPs	diseases
15	nsv1062789	chr22:20100465-20749579	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
16	nsv869949	chr22:20126918-20719112	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
17	nsv914360	chr22:20165632-20339310	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
18	nsv914361	chr22:20181136-20313299	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
19	nsv588253	chr22:20287286-20344527	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv979635	chr22:20295282-20321676	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
21	esv1847376	chr22:20295573-20485443	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
22	esv1812390	chr22:20301036-20367573	Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
23	nsv471478	chr22:20305447-20504066	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
24	nsv471543	chr22:20305447-20504066	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
25	nsv518950	chr22:20306993-20965555	Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
26	nsv432174	chr22:20309346-21102446	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20308400-20311800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr22:20308400-20312200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr22:20308600-20312000	Enhancers	Fetal Thymus	thymus
4	chr22:20308600-20312200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr22:20308600-20312200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr22:20308600-20312200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr22:20308800-20312000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr22:20308800-20312200	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr22:20308800-20313400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr22:20309000-20311800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr22:20309200-20311600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr22:20309200-20311600	Weak transcription	Brain Substantia Nigra	brain
13	chr22:20309200-20311800	Enhancers	HepG2	liver
14	chr22:20309200-20313200	Weak transcription	Spleen	Spleen
15	chr22:20309200-20327000	Weak transcription	Right Atrium	heart
16	chr22:20309400-20315600	Weak transcription	Dnd41	blood
17	chr22:20309600-20311600	Weak transcription	Fetal Intestine Small	intestine
18	chr22:20309600-20312000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr22:20309800-20311800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr22:20309800-20312000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr22:20309800-20312000	Enhancers	Primary T cells from cord blood	blood
22	chr22:20309800-20312200	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr22:20310000-20312000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr22:20310000-20312200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr22:20310000-20312200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr22:20310200-20312200	Weak transcription	Fetal Muscle Leg	muscle
27	chr22:20310400-20311600	Enhancers	NH-A	brain
28	chr22:20310400-20311600	Enhancers	Osteobl	bone
29	chr22:20310400-20312000	Enhancers	NHDF-Ad	bronchial
30	chr22:20310600-20311600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr22:20310600-20311600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr22:20310600-20312000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr22:20310600-20312200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr22:20310800-20311800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr22:20311000-20312000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr22:20311000-20312000	Enhancers	HMEC	breast
37	chr22:20311200-20311600	Enhancers	NHLF	lung
38	chr22:20311200-20311800	Weak transcription	Right Ventricle	heart
39	chr22:20311200-20312000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr22:20311200-20312000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr22:20311200-20312000	Enhancers	HSMM	muscle
42	chr22:20311200-20312000	Enhancers	HSMMtube	muscle
43	chr22:20311400-20311600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr22:20311400-20311600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr22:20311400-20311600	Enhancers	Brain Inferior Temporal Lobe	brain

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