Variant report

Variant	rs62220914
Chromosome Location	chr22:23480925-23480926
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	MTA3	chr22:23479946-23481534	GM12878	blood:	n/a	n/a
2	WRNIP1	chr22:23480692-23481389	GM12878	blood:	n/a	n/a
3	NFIC	chr22:23479979-23481110	GM12878	blood:	n/a	n/a
4	TBP	chr22:23480034-23481244	GM12878	blood:	n/a	n/a
5	RUNX3	chr22:23479933-23480996	GM12878	blood:	n/a	n/a
6	RUNX3	chr22:23479908-23480984	GM12878	blood:	n/a	n/a
7	IKZF1	chr22:23479607-23481463	GM12878	blood:	n/a	n/a
8	CHD1	chr22:23480122-23481193	GM12878	blood:	n/a	n/a
9	EP300	chr22:23480906-23481106	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
RTDR1	TF binding region

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11704365	0.83[ASN][1000 genomes]
rs2267006	0.81[ASN][1000 genomes]
rs2267010	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2267012	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2267014	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2283804	0.81[ASN][1000 genomes]
rs5751583	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5751605	0.85[AMR][1000 genomes]
rs5759639	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60054645	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs768513	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803110	chr22:22731758-23497674	Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv915235	chr22:22971768-23650987	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
3	esv3388845	chr22:22973346-23652447	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	100 gene(s)	inside rSNPs	diseases
4	nsv531799	chr22:22993679-23642142	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
5	nsv1061433	chr22:22997799-23649107	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
6	nsv521695	chr22:22998337-23648009	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
7	nsv915236	chr22:22998337-23650987	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
8	nsv588512	chr22:22998337-23667731	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
9	nsv531800	chr22:23002708-23648163	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
10	nsv916593	chr22:23002709-23648790	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers 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	97 gene(s)	inside rSNPs	diseases
11	nsv993496	chr22:23002709-23654222	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
12	nsv1067002	chr22:23007167-23643363	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS 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	97 gene(s)	inside rSNPs	diseases
13	nsv1067324	chr22:23007367-23654223	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Strong transcription 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	97 gene(s)	inside rSNPs	diseases
14	nsv533839	chr22:23012013-23643223	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
15	nsv916933	chr22:23012069-23654237	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
16	nsv531801	chr22:23028586-23657804	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS 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	92 gene(s)	inside rSNPs	diseases
17	nsv531802	chr22:23046186-23627391	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	85 gene(s)	inside rSNPs	diseases
18	nsv1060509	chr22:23055148-23648719	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS 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	83 gene(s)	inside rSNPs	diseases
19	nsv1056324	chr22:23055148-23750989	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS 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 miRNA target site	88 gene(s)	inside rSNPs	diseases
20	nsv1062780	chr22:23060449-23648719	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
21	nsv948942	chr22:23063178-23645718	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
22	nsv1063200	chr22:23097177-23643224	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	80 gene(s)	inside rSNPs	diseases
23	nsv949250	chr22:23157485-23645718	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
24	esv34158	chr22:23216762-23499513	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
25	nsv1057659	chr22:23400739-24138788	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
26	nsv3573	chr22:23441543-23485820	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription 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	16 gene(s)	inside rSNPs	diseases
27	nsv544616	chr22:23474827-23495231	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
28	esv3455633	chr22:23476452-23481350	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
29	esv1808801	chr22:23478573-23489042	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
30	esv1812488	chr22:23478573-23489042	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
31	esv1801510	chr22:23478611-23491000	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23453200-23484800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:23470800-23483600	Weak transcription	Fetal Intestine Small	intestine
3	chr22:23471400-23483600	Weak transcription	Brain Anterior Caudate	brain
4	chr22:23471400-23483600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr22:23476200-23483800	Enhancers	Primary T cells fromperipheralblood	blood
6	chr22:23476600-23483600	Weak transcription	Fetal Stomach	stomach
7	chr22:23476800-23483800	Weak transcription	Right Ventricle	heart
8	chr22:23477000-23483800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr22:23477800-23481400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr22:23477800-23481600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr22:23477800-23481800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr22:23477800-23483600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr22:23477800-23484200	Enhancers	Primary B cells from cord blood	blood
14	chr22:23477800-23485000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr22:23478000-23481800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr22:23478000-23484000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr22:23478200-23481200	Enhancers	Primary T cells from cord blood	blood
18	chr22:23478200-23481400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr22:23478200-23481400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr22:23478200-23481400	Enhancers	Fetal Thymus	thymus
21	chr22:23478200-23481600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr22:23478200-23483600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr22:23478200-23483600	Enhancers	Primary B cells from peripheral blood	blood
24	chr22:23478400-23481600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr22:23478400-23482000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr22:23478400-23483600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:23478400-23483800	Weak transcription	Right Atrium	heart
28	chr22:23479200-23481000	Weak transcription	Liver	Liver
29	chr22:23479200-23481000	Enhancers	Thymus	Thymus
30	chr22:23479200-23481600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr22:23479200-23481600	Enhancers	HMEC	breast
32	chr22:23479400-23482400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr22:23479400-23482600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr22:23479400-23487400	Weak transcription	Esophagus	oesophagus
35	chr22:23479600-23481400	Enhancers	Osteobl	bone
36	chr22:23479600-23485200	Enhancers	Primary hematopoietic stem cells	blood
37	chr22:23479800-23481200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr22:23479800-23481400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr22:23480000-23481000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr22:23480000-23481400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr22:23480000-23481600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr22:23480000-23481600	Enhancers	Dnd41	blood
43	chr22:23480000-23487000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr22:23480200-23481000	Enhancers	HSMM	muscle
45	chr22:23480200-23481000	Enhancers	HSMMtube	muscle
46	chr22:23480200-23481200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr22:23480200-23481200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr22:23480200-23481200	Enhancers	Spleen	Spleen
49	chr22:23480200-23481200	Flanking Active TSS	GM12878-XiMat	blood
50	chr22:23480200-23481400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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