Variant report

Variant	rs9607343
Chromosome Location	chr22:22223303-22223304
allele	A/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	POLR2A	chr22:22220638-22223479	K562	blood:	n/a	n/a
2	CCNT2	chr22:22222976-22223348	K562	blood:	n/a	n/a
3	STAT5A	chr22:22218734-22223767	K562	blood:	n/a	chr22:22220332-22220339
4	POLR2A	chr22:22220073-22223654	K562	blood:	n/a	n/a
5	MAFK	chr22:22222032-22223536	K562	blood:	n/a	chr22:22223048-22223063 chr22:22223049-22223060 chr22:22223048-22223059 chr22:22223049-22223060 chr22:22223048-22223059 chr22:22223049-22223069 chr22:22223048-22223064 chr22:22223047-22223061 chr22:22223051-22223067
6	POLR2A	chr22:22220947-22223634	K562	blood:	n/a	n/a
7	TBL1XR1	chr22:22220734-22223393	K562	blood:	n/a	n/a
8	TBP	chr22:22220659-22223487	K562	blood:	n/a	n/a
9	MAX	chr22:22220257-22223769	K562	blood:	n/a	chr22:22222195-22222204
10	UBTF	chr22:22220099-22223660	K562	blood:	n/a	n/a
11	IRF1	chr22:22220695-22223841	K562	blood:	n/a	chr22:22222396-22222410 chr22:22220703-22220715 chr22:22222398-22222411 chr22:22220704-22220714 chr22:22222398-22222411 chr22:22220698-22220715 chr22:22222398-22222411 chr22:22222398-22222411
12	YY1	chr22:22223152-22223362	K562	blood:	n/a	chr22:22223272-22223281
13	NR2F2	chr22:22218736-22225001	K562	blood:	n/a	n/a
14	POLR2A	chr22:22220230-22223378	K562	blood:	n/a	n/a
15	MYC	chr22:22220292-22223529	K562	blood:	n/a	chr22:22222195-22222204
16	CBX3	chr22:22219938-22223773	K562	blood:	n/a	n/a
17	CEBPB	chr22:22221728-22224104	K562	blood:	n/a	n/a
18	EP300	chr22:22220662-22223586	K562	blood:	n/a	chr22:22221780-22221789 chr22:22221778-22221787 chr22:22221823-22221832
19	POLR2A	chr22:22223162-22223311	MCF10A-Er-Src	breast:	n/a	n/a
20	PML	chr22:22218814-22223649	K562	blood:	n/a	n/a
21	TRIM28	chr22:22218304-22223756	K562	blood:	n/a	n/a
22	PML	chr22:22217807-22223708	K562	blood:	n/a	n/a
23	BHLHE40	chr22:22222948-22223445	K562	blood:	n/a	n/a
24	STAT5A	chr22:22221972-22223684	K562	blood:	n/a	n/a
25	POLR2A	chr22:22222941-22223730	K562	blood:	n/a	n/a
26	ETS1	chr22:22220203-22223490	K562	blood:	n/a	chr22:22221364-22221377 chr22:22221370-22221381 chr22:22221822-22221833 chr22:22221292-22221299
27	POLR2A	chr22:22220239-22223587	K562	blood:	n/a	n/a
28	NR2F2	chr22:22217716-22223666	K562	blood:	n/a	n/a
29	HEY1	chr22:22219955-22223607	K562	blood:	n/a	chr22:22221812-22221827 chr22:22221327-22221342 chr22:22221775-22221790 chr22:22221821-22221836
30	JUND	chr22:22220626-22223510	K562	blood:	n/a	chr22:22222498-22222507 chr22:22222412-22222423
31	POLR2A	chr22:22221145-22223331	HepG2	liver:	n/a	n/a
32	MYC	chr22:22220602-22223597	K562	blood:	n/a	chr22:22222195-22222204
33	ZMIZ1	chr22:22220782-22223336	K562	blood:	n/a	n/a
34	MAFF	chr22:22222868-22223493	K562	blood:	n/a	chr22:22223046-22223064 chr22:22223052-22223066
35	KAP1	chr22:22222960-22223505	K562	blood:	n/a	n/a
36	TEAD4	chr22:22218687-22223760	K562	blood:	n/a	n/a
37	TBL1XR1	chr22:22222994-22223671	K562	blood:	n/a	n/a
38	CEBPD	chr22:22218757-22223522	K562	blood:	n/a	n/a
39	ZNF384	chr22:22222872-22223602	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:22223152..22224901-chr22:22325456..22327966,2	K562	blood:
2	chr22:22088248..22093129-chr22:22216287..22223699,14	K562	blood:
3	chr22:22222501..22224527-chr22:22339933..22342358,2	K562	blood:
4	chr22:22222052..22225608-chr22:22280973..22283949,4	K562	blood:
5	chr22:21982548..21988468-chr22:22219240..22225195,10	K562	blood:
6	chr22:22218339..22225021-chr22:22291070..22294784,16	K562	blood:
7	chr22:22218324..22226656-chr22:22285349..22295547,26	K562	blood:
8	chr22:22122532..22127617-chr22:22219162..22223701,7	K562	blood:
9	chr22:22222094..22224055-chr22:22260389..22262322,2	K562	blood:
10	chr22:22222543..22224623-chr22:22247258..22248880,2	K562	blood:
11	chr22:21979671..21985739-chr22:22220007..22225195,6	K562	blood:
12	chr22:22122532..22126168-chr22:22220788..22223701,4	K562	blood:
13	chr22:22218169..22225151-chr22:22299036..22308632,16	K562	blood:
14	chr22:22220969..22223712-chr22:22898526..22900646,2	K562	blood:
15	chr22:22220823..22223520-chr22:22318773..22322069,3	K562	blood:
16	chr22:22219761..22223642-chr22:22333943..22337946,5	K562	blood:
17	chr22:22088248..22091848-chr22:22218236..22223530,12	K562	blood:
18	chr22:22018793..22022039-chr22:22220476..22224115,4	K562	blood:

Variant related genes	Relation type
MAPK1	TF binding region
ENSG00000100030	Chromatin interaction
ENSG00000100027	Chromatin interaction
ENSG00000161180	Chromatin interaction
ENSG00000185686	Chromatin interaction
ENSG00000100038	Chromatin interaction
ENSG00000161179	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000100023	Chromatin interaction
ENSG00000224086	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12172554	1.00[ASN][1000 genomes]
rs9607485	1.00[ASN][1000 genomes]
rs9610184	1.00[ASN][1000 genomes]
rs9610597	1.00[ASN][1000 genomes]
rs9610730	1.00[ASN][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	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
2	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
3	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
4	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
5	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
6	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
7	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer 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 target site	51 gene(s)	inside rSNPs	diseases
8	nsv1066964	chr22:22055123-22228745	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv544604	chr22:22055123-22228745	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv948580	chr22:22100718-22839559	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic 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 target site	97 gene(s)	inside rSNPs	diseases
11	nsv914470	chr22:22131125-22272737	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv1059265	chr22:22131125-22457154	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	esv3379268	chr22:22135347-22446281	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	esv3385441	chr22:22135777-22320294	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	esv2752404	chr22:22141825-22570417	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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 target site	64 gene(s)	inside rSNPs	diseases
16	esv2422277	chr22:22144108-22442159	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	esv2422295	chr22:22144108-22442159	Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	esv2422374	chr22:22152248-22595246	Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
19	esv2422403	chr22:22152248-23112582	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
20	nsv1062641	chr22:22157661-22367697	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
21	esv2422390	chr22:22157964-23112582	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
22	nsv914471	chr22:22165557-22272737	Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
23	esv2763701	chr22:22173533-22573987	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
24	esv2422372	chr22:22198324-22731587	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
25	esv2422362	chr22:22198357-23125553	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
26	esv2422446	chr22:22198357-23127963	Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
27	esv2422338	chr22:22210933-22417406	Genic enhancers Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
28	esv2422223	chr22:22210933-22700941	Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
29	esv2422217	chr22:22217341-23120076	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
30	esv2422394	chr22:22220046-22543157	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
31	esv3389906	chr22:22220477-22223325	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22222200-22223400	Flanking Active TSS	Dnd41	blood
2	chr22:22222600-22223400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:22222600-22223400	Enhancers	Fetal Muscle Leg	muscle
4	chr22:22222600-22223400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr22:22222600-22229200	Weak transcription	Right Atrium	heart
6	chr22:22222800-22223400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr22:22222800-22223400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr22:22222800-22223400	Enhancers	Primary T cells from cord blood	blood
9	chr22:22222800-22223400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr22:22222800-22223400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr22:22222800-22223400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr22:22222800-22223400	Enhancers	NHDF-Ad	bronchial
13	chr22:22222800-22223600	Enhancers	Primary B cells from peripheral blood	blood
14	chr22:22222800-22223600	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr22:22222800-22223600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr22:22222800-22223600	Enhancers	Adipose Nuclei	Adipose
17	chr22:22222800-22223600	Enhancers	Brain Angular Gyrus	brain
18	chr22:22222800-22223600	Enhancers	Fetal Brain Female	brain
19	chr22:22223000-22223400	Enhancers	Primary hematopoietic stem cells	blood
20	chr22:22223000-22223400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr22:22223000-22223400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:22223000-22223400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr22:22223000-22223400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr22:22223000-22223400	Enhancers	Colon Smooth Muscle	Colon
25	chr22:22223000-22223400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr22:22223000-22223400	Enhancers	A549	lung
27	chr22:22223000-22223400	Enhancers	Hela-S3	cervix
28	chr22:22223000-22223400	Enhancers	HepG2	liver
29	chr22:22223000-22223400	Enhancers	HSMM	muscle
30	chr22:22223000-22223400	Transcr. at gene 5' and 3'	K562	blood
31	chr22:22223000-22223600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr22:22223000-22223600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr22:22223000-22223600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr22:22223000-22223600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr22:22223000-22223600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr22:22223000-22223600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr22:22223200-22223400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr22:22223200-22223400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr22:22223200-22223400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr22:22223200-22223400	Enhancers	Aorta	Aorta
41	chr22:22223200-22223400	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr22:22223200-22223600	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr22:22223200-22223600	Enhancers	Primary B cells from cord blood	blood
44	chr22:22223200-22223600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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