Variant report

Variant	rs58288529
Chromosome Location	chr22:23593271-23593272
allele	C/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	CEBPB	chr22:23592929-23594524	K562	blood:	n/a	n/a
2	MYC	chr22:23591951-23593300	K562	blood:	n/a	chr22:23591995-23592005
3	GABPA	chr22:23592989-23594586	K562	blood:	n/a	n/a
4	RAD21	chr22:23592973-23593291	HepG2	liver:	n/a	n/a
5	ELF1	chr22:23593191-23593734	GM12878	blood:	n/a	n/a
6	RAD21	chr22:23593003-23593283	HepG2	liver:	n/a	n/a
7	CTCF	chr22:23592904-23593515	K562	blood:	n/a	n/a
8	GTF2F1	chr22:23592968-23594538	K562	blood:	n/a	n/a
9	SMC3	chr22:23592814-23593337	K562	blood:	n/a	n/a
10	TEAD4	chr22:23591609-23594640	K562	blood:	n/a	n/a
11	MYC	chr22:23591826-23594535	K562	blood:	n/a	chr22:23594366-23594375 chr22:23593934-23593943 chr22:23594161-23594168 chr22:23594157-23594170 chr22:23591995-23592005 chr22:23594261-23594271 chr22:23594159-23594166
12	MAX	chr22:23591576-23594666	K562	blood:	n/a	chr22:23594366-23594375 chr22:23593934-23593943 chr22:23594161-23594168 chr22:23594157-23594170 chr22:23591995-23592005 chr22:23594261-23594271 chr22:23594159-23594166
13	MAFK	chr22:23591902-23594551	K562	blood:	n/a	chr22:23594366-23594376 chr22:23591943-23591954
14	YY1	chr22:23592896-23594574	K562	blood:	n/a	n/a
15	JUND	chr22:23591848-23594547	K562	blood:	n/a	chr22:23594364-23594376 chr22:23592067-23592078 chr22:23594366-23594373 chr22:23593950-23593959 chr22:23591938-23591950 chr22:23593935-23593946 chr22:23594366-23594374 chr22:23593932-23593943 chr22:23594366-23594374 chr22:23593933-23593942 chr22:23593158-23593167 chr22:23593933-23593943 chr22:23593932-23593944
16	BHLHE40	chr22:23591802-23594532	K562	blood:	n/a	n/a
17	YY1	chr22:23592924-23594587	K562	blood:	n/a	n/a
18	CUX1	chr22:23591819-23594489	K562	blood:	n/a	n/a
19	MAFF	chr22:23591845-23593277	K562	blood:	n/a	n/a
20	TEAD4	chr22:23591758-23594656	K562	blood:	n/a	n/a
21	RAD21	chr22:23592980-23593378	HepG2	liver:	n/a	n/a
22	POLR2A	chr22:23591847-23594604	K562	blood:	n/a	n/a
23	JUN	chr22:23591900-23594401	K562	blood:	n/a	chr22:23593949-23593962 chr22:23594364-23594376 chr22:23592067-23592078 chr22:23594366-23594373 chr22:23593950-23593959 chr22:23591938-23591950 chr22:23593935-23593946 chr22:23594366-23594374 chr22:23594366-23594374 chr22:23593933-23593942 chr22:23593158-23593167 chr22:23593933-23593943 chr22:23593932-23593944
24	RCOR1	chr22:23591840-23594502	K562	blood:	n/a	n/a
25	ZBTB7A	chr22:23591791-23594593	K562	blood:	n/a	n/a
26	ZC3H11A	chr22:23591771-23594554	K562	blood:	n/a	n/a
27	TBL1XR1	chr22:23591756-23594519	K562	blood:	n/a	n/a
28	FOSL1	chr22:23592998-23594519	K562	blood:	n/a	chr22:23594364-23594376 chr22:23594366-23594373 chr22:23593950-23593959 chr22:23593935-23593946 chr22:23594366-23594374 chr22:23594366-23594374 chr22:23593933-23593942 chr22:23593158-23593167 chr22:23593933-23593943 chr22:23593932-23593944
29	ATF3	chr22:23591609-23594592	K562	blood:	n/a	chr22:23593950-23593964 chr22:23593948-23593961 chr22:23593948-23593959 chr22:23593951-23593958 chr22:23593951-23593959 chr22:23593948-23593961 chr22:23593950-23593958 chr22:23593947-23593962 chr22:23593949-23593960 chr22:23593951-23593962 chr22:23593950-23593961
30	EP300	chr22:23592260-23594463	K562	blood:	n/a	chr22:23594366-23594375
31	ELF1	chr22:23591579-23594644	K562	blood:	n/a	chr22:23591881-23591892
32	CTCF	chr22:23592928-23593333	K562	blood:	n/a	n/a
33	CBX3	chr22:23591625-23594653	K562	blood:	n/a	n/a
34	JUN	chr22:23591468-23594706	K562	blood:	n/a	chr22:23593949-23593962 chr22:23594364-23594376 chr22:23592067-23592078 chr22:23594366-23594373 chr22:23593950-23593959 chr22:23591938-23591950 chr22:23593935-23593946 chr22:23594366-23594374 chr22:23594366-23594374 chr22:23593933-23593942 chr22:23593158-23593167 chr22:23593933-23593943 chr22:23593932-23593944
35	RAD21	chr22:23593053-23593278	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr22:23593031-23593525	HepG2	liver:	n/a	n/a
37	CTCF	chr22:23592903-23594617	K562	blood:	n/a	chr22:23594347-23594355 chr22:23594349-23594362
38	HDAC2	chr22:23592961-23594590	K562	blood:	n/a	n/a
39	NR2F2	chr22:23591603-23594685	K562	blood:	n/a	n/a
40	EP300	chr22:23591866-23594428	K562	blood:	n/a	chr22:23594366-23594375
41	MYC	chr22:23592902-23594553	K562	blood:	n/a	chr22:23594366-23594375 chr22:23593934-23593943 chr22:23594161-23594168 chr22:23594157-23594170 chr22:23594261-23594271 chr22:23594159-23594166
42	ZNF263	chr22:23593021-23594568	K562	blood:	n/a	n/a
43	UBTF	chr22:23591907-23594550	K562	blood:	n/a	n/a
44	E2F6	chr22:23593080-23594483	K562	blood:	n/a	chr22:23593951-23593960 chr22:23593949-23593958
45	HDAC2	chr22:23591537-23594616	K562	blood:	n/a	chr22:23592407-23592415
46	ETS1	chr22:23592909-23594593	K562	blood:	n/a	chr22:23594189-23594203
47	CEBPB	chr22:23591669-23594678	K562	blood:	n/a	n/a
48	NR2F2	chr22:23591443-23594707	K562	blood:	n/a	n/a
49	RCOR1	chr22:23591841-23594553	K562	blood:	n/a	n/a
50	MAZ	chr22:23591898-23593369	K562	blood:	n/a	chr22:23591995-23592005

No.	Distal block	Cell Line	Cell type
1	chr22:23592897..23595118-chr22:23596065..23598461,2	MCF-7	breast:
2	chr22:23522033..23525900-chr22:23589634..23593895,5	MCF-7	breast:
3	chr22:23521768..23522736-chr22:23592643..23593640,6	K562	blood:
4	chr22:23521185..23525273-chr22:23592606..23595379,3	MCF-7	breast:

Variant related genes	Relation type
BCR	TF binding region
ENSG00000236794	Chromatin interaction
ENSG00000186716	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11913733	1.00[AMR][1000 genomes]
rs6003674	1.00[AMR][1000 genomes]
rs6003687	1.00[AMR][1000 genomes]
rs73878637	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 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	nsv588598	chr22:23530168-23638025	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
25	nsv9876	chr22:23563331-23923059	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS 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 target site	29 gene(s)	inside rSNPs	diseases
26	nsv482557	chr22:23584948-23741799	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
27	nsv531550	chr22:23589667-24012550	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers 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 target site	40 gene(s)	inside rSNPs	diseases
28	esv2762117	chr22:23592136-23996869	Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Weak 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 target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23573800-23593400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr22:23583800-23596000	Weak transcription	Colonic Mucosa	Colon
3	chr22:23585200-23595000	Weak transcription	Dnd41	blood
4	chr22:23585200-23595800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr22:23585400-23593800	Weak transcription	Fetal Heart	heart
6	chr22:23585600-23595800	Weak transcription	Fetal Brain Female	brain
7	chr22:23585800-23593400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr22:23585800-23594200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr22:23585800-23594400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr22:23585800-23594400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr22:23585800-23594600	Enhancers	Primary T cells fromperipheralblood	blood
12	chr22:23585800-23596000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr22:23585800-23605600	Weak transcription	Fetal Lung	lung
14	chr22:23587000-23593600	Weak transcription	A549	lung
15	chr22:23587400-23597400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr22:23587600-23593800	Weak transcription	NHLF	lung
17	chr22:23587600-23596000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr22:23587800-23593800	Weak transcription	NHDF-Ad	bronchial
19	chr22:23587800-23595600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr22:23587800-23595800	Weak transcription	Brain Germinal Matrix	brain
21	chr22:23587800-23598000	Weak transcription	Colon Smooth Muscle	Colon
22	chr22:23588200-23596000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr22:23588400-23593400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr22:23588400-23594400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr22:23588400-23595800	Weak transcription	Aorta	Aorta
26	chr22:23588400-23596400	Weak transcription	HSMMtube	muscle
27	chr22:23588800-23594200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr22:23588800-23594400	Enhancers	Stomach Mucosa	stomach
29	chr22:23588800-23598800	Weak transcription	HSMM	muscle
30	chr22:23589200-23594400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr22:23589400-23594600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr22:23589800-23593400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr22:23589800-23595200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr22:23589800-23596000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr22:23590000-23593400	Weak transcription	Pancreas	Pancrea
36	chr22:23590000-23593600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr22:23590000-23595400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr22:23590000-23595400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr22:23590000-23595800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr22:23590000-23595800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr22:23590000-23596000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr22:23590200-23593600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr22:23590200-23593600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr22:23590200-23596000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr22:23590400-23595000	Enhancers	Fetal Thymus	thymus
46	chr22:23590800-23593400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr22:23590800-23593600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr22:23590800-23594600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr22:23590800-23594800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr22:23590800-23598800	Weak transcription	Small Intestine	intestine

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