Variant report

Variant	rs11705692
Chromosome Location	chr22:23526647-23526648
allele	G/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	HEY1	chr22:23526640-23527637	K562	blood:	n/a	n/a
2	TBL1XR1	chr22:23520604-23527305	K562	blood:	n/a	n/a
3	TEAD4	chr22:23520448-23527326	K562	blood:	n/a	n/a
4	POLR2A	chr22:23521572-23527572	K562	blood:	n/a	n/a
5	NR2F2	chr22:23523039-23527297	K562	blood:	n/a	n/a
6	ZC3H11A	chr22:23520594-23526970	K562	blood:	n/a	n/a
7	CBX3	chr22:23520451-23527677	K562	blood:	n/a	chr22:23520879-23520890
8	TBL1XR1	chr22:23524430-23526916	K562	blood:	n/a	n/a
9	SP2	chr22:23523510-23527543	K562	blood:	n/a	n/a
10	NR2F2	chr22:23523076-23527616	K562	blood:	n/a	n/a
11	ARID3A	chr22:23525494-23526949	K562	blood:	n/a	n/a
12	ZNF384	chr22:23524211-23527243	K562	blood:	n/a	n/a
13	TEAD4	chr22:23520525-23527111	K562	blood:	n/a	n/a
14	TRIM28	chr22:23523091-23527228	K562	blood:	n/a	n/a
15	EP300	chr22:23524211-23526986	K562	blood:	n/a	chr22:23525015-23525024 chr22:23525913-23525927
16	ETS1	chr22:23520532-23527620	K562	blood:	n/a	chr22:23527119-23527126 chr22:23526143-23526154 chr22:23522665-23522676 chr22:23525734-23525745
17	STAT5A	chr22:23524257-23527145	K562	blood:	n/a	chr22:23527120-23527127
18	ZNF274	chr22:23523589-23526925	K562	blood:	n/a	n/a
19	ZMIZ1	chr22:23526612-23527328	K562	blood:	n/a	n/a
20	CUX1	chr22:23526643-23527360	K562	blood:	n/a	n/a
21	PML	chr22:23520453-23527461	K562	blood:	n/a	n/a
22	MYC	chr22:23520630-23526985	K562	blood:	n/a	chr22:23524440-23524449 chr22:23525734-23525744 chr22:23524440-23524449 chr22:23522597-23522607 chr22:23524441-23524448

No.	Distal block	Cell Line	Cell type
1	chr22:23525964..23528209-chr22:23616642..23619198,2	MCF-7	breast:
2	chr22:23524791..23527515-chr22:23557976..23560778,2	MCF-7	breast:
3	chr22:23525119..23527283-chr9:133607796..133612405,5	K562	blood:
4	chr22:23525293..23527238-chr9:133609479..133612405,2	K562	blood:
5	chr22:23522919..23527024-chr9:133630421..133633989,3	K562	blood:

Variant related genes	Relation type
BCRP8	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11702939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11702951	1.00[EUR][1000 genomes]
rs11702988	1.00[EUR][1000 genomes]
rs11703018	1.00[EUR][1000 genomes]
rs11703394	1.00[AMR][1000 genomes]
rs11703410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11703413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11703415	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11703459	1.00[AMR][1000 genomes]
rs11703619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11703666	1.00[EUR][1000 genomes]
rs11703839	1.00[AMR][1000 genomes]
rs11704126	1.00[EUR][1000 genomes]
rs11704186	1.00[AMR][1000 genomes]
rs11704491	1.00[AMR][1000 genomes]
rs11704645	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11704807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11704812	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11704834	1.00[EUR][1000 genomes]
rs11705141	1.00[AMR][1000 genomes]
rs11705217	1.00[EUR][1000 genomes]
rs11705526	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11705643	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11705661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11705689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17853740	1.00[EUR][1000 genomes]
rs41277287	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41277289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41311051	1.00[EUR][1000 genomes]
rs58182042	1.00[EUR][1000 genomes]
rs5996464	1.00[EUR][1000 genomes]
rs5996466	1.00[EUR][1000 genomes]
rs5996468	1.00[EUR][1000 genomes]
rs6003506	1.00[EUR][1000 genomes]
rs6003508	1.00[EUR][1000 genomes]
rs6003510	1.00[EUR][1000 genomes]
rs6003511	1.00[EUR][1000 genomes]
rs8136486	1.00[EUR][1000 genomes]
rs9624011	1.00[EUR][1000 genomes]
rs9624023	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	nsv1058604	chr22:23497533-23545751	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23523400-23527400	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr22:23523600-23527400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
3	chr22:23523600-23527600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr22:23523600-23527800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr22:23523800-23527000	Transcr. at gene 5' and 3'	K562	blood
6	chr22:23524800-23527000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr22:23524800-23527600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:23525000-23527000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr22:23525200-23527400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr22:23525200-23527400	Enhancers	Fetal Lung	lung
11	chr22:23525200-23527600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr22:23525200-23527600	Enhancers	Spleen	Spleen
13	chr22:23525200-23528400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:23525600-23526800	Flanking Active TSS	HUVEC	blood vessel
15	chr22:23525600-23527400	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr22:23525600-23527400	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr22:23525600-23527800	Enhancers	Gastric	stomach
18	chr22:23525600-23530200	Enhancers	Primary B cells from peripheral blood	blood
19	chr22:23525800-23526800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr22:23525800-23527000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr22:23525800-23527200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr22:23525800-23527400	Enhancers	Fetal Intestine Large	intestine
23	chr22:23525800-23527400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr22:23525800-23527600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr22:23525800-23530200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr22:23525800-23530600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr22:23526000-23526800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr22:23526000-23526800	Weak transcription	Lung	lung
29	chr22:23526000-23527000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr22:23526000-23527000	Enhancers	Fetal Thymus	thymus
31	chr22:23526000-23527000	Flanking Active TSS	HepG2	liver
32	chr22:23526000-23527200	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr22:23526000-23527200	Genic enhancers	Fetal Stomach	stomach
34	chr22:23526000-23527200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr22:23526000-23527200	Flanking Active TSS	HSMMtube	muscle
36	chr22:23526000-23527400	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr22:23526000-23527600	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr22:23526000-23527600	Genic enhancers	Fetal Intestine Small	intestine
39	chr22:23526000-23527600	Enhancers	Placenta	Placenta
40	chr22:23526000-23528200	Enhancers	Primary B cells from cord blood	blood
41	chr22:23526000-23528400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr22:23526000-23528400	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr22:23526000-23528400	Enhancers	Pancreas	Pancrea
44	chr22:23526000-23529600	Enhancers	Liver	Liver
45	chr22:23526000-23530000	Enhancers	Primary T cells fromperipheralblood	blood
46	chr22:23526000-23530000	Weak transcription	NH-A	brain
47	chr22:23526000-23535200	Weak transcription	Stomach Mucosa	stomach
48	chr22:23526000-23546000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr22:23526200-23526800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr22:23526200-23526800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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