Variant report

Variant	rs73880623
Chromosome Location	chr22:22697323-22697324
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	CTCF	chr22:22697300-22697450	HPAF	blood vessel:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
2	CTCF	chr22:22697236-22697551	MCF-7	breast:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
3	CTCF	chr22:22697320-22697470	HEK293	kidney:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
4	CTCF	chr22:22697280-22697430	HCPEpiC	choroid plexus:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
5	CTCF	chr22:22697233-22697442	SK-N-SH_RA	brain:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
6	CTCF	chr22:22697260-22697410	HL-60	blood:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
7	CTCF	chr22:22697219-22697516	LNCaP	prostate:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
8	CTCF	chr22:22697205-22697740	GM19240	blood:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
9	CTCF	chr22:22697320-22697470	HUVEC	blood vessel:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
10	CREB1	chr22:22697252-22697623	GM12878	blood:	n/a	n/a
11	CTCF	chr22:22697280-22697430	WI-38	lung:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
12	STAT5A	chr22:22696819-22697610	K562	blood:	n/a	n/a
13	SMC3	chr22:22697193-22697593	Hela-S3	cervix:	n/a	chr22:22697369-22697383
14	SIN3A	chr22:22697287-22697559	H1-hESC	embryonic stem cell:	n/a	chr22:22697360-22697369
15	THAP1	chr22:22697024-22698099	K562	blood:	n/a	n/a
16	ZMIZ1	chr22:22697304-22697458	K562	blood:	n/a	n/a
17	RAD21	chr22:22697215-22697530	H1-hESC	embryonic stem cell:	n/a	chr22:22697368-22697387 chr22:22697369-22697383
18	RAD21	chr22:22697123-22697659	H1-hESC	embryonic stem cell:	n/a	chr22:22697368-22697387 chr22:22697369-22697383
19	CTCF	chr22:22697260-22697410	Hela-S3	cervix:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
20	CTCF	chr22:22697300-22697450	K562	blood:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
21	RAD21	chr22:22697238-22697530	GM12878	blood:	n/a	chr22:22697368-22697387 chr22:22697369-22697383
22	CTCF	chr22:22697207-22697541	T-47D	breast:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
23	CTCF	chr22:22697197-22697704	GM19238	blood:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
24	CTCF	chr22:22697226-22697513	MCF-7	breast:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
25	UBTF	chr22:22697270-22697545	K562	blood:	n/a	n/a
26	CTCF	chr22:22697197-22697583	MCF-7	breast:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
27	CTCF	chr22:22697240-22697544	GM19239	blood:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
28	CTCF	chr22:22697164-22697589	K562	blood:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
29	CTCF	chr22:22697320-22697470	SK-N-SH_RA	brain:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
30	CTCF	chr22:22697320-22697470	HMEC	breast:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
31	CTCF	chr22:22697320-22697470	GM12878	blood:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
32	MAX	chr22:22697160-22697630	MCF-7	breast:	n/a	chr22:22697300-22697316
33	CTCF	chr22:22697280-22697430	A549	lung:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
34	CTCF	chr22:22697280-22697430	HPAF	blood vessel:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
35	SMC3	chr22:22697221-22697536	GM12878	blood:	n/a	chr22:22697369-22697383
36	CTCF	chr22:22697320-22697470	AG09309	skin:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
37	CTCF	chr22:22697188-22697515	ECC-1	luminal epithelium:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
38	CTCF	chr22:22697280-22697430	AG10803	skin:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
39	CTCF	chr22:22697214-22697501	GM20000	blood:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
40	CTCF	chr22:22697300-22697450	WI-38	lung:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
41	TEAD4	chr22:22697118-22697678	K562	blood:	n/a	chr22:22697470-22697479
42	YY1	chr22:22697224-22697490	K562	blood:	n/a	n/a
43	MAZ	chr22:22697202-22697580	K562	blood:	n/a	chr22:22697300-22697316
44	RAD21	chr22:22697208-22697588	H1-hESC	embryonic stem cell:	n/a	chr22:22697368-22697387 chr22:22697369-22697383
45	CTCF	chr22:22697320-22697470	WERI-Rb-1	eye:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
46	RFX5	chr22:22697272-22697399	K562	blood:	n/a	n/a
47	CTCF	chr22:22697207-22697653	Spleen_OC	spleen:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390
48	RAD21	chr22:22697084-22697685	MCF-7	breast:	n/a	chr22:22697368-22697387 chr22:22697369-22697383
49	EP300	chr22:22697288-22697459	K562	blood:	n/a	n/a
50	CTCF	chr22:22697300-22697450	Caco-2	colon:	n/a	chr22:22697370-22697383 chr22:22697367-22697385 chr22:22697370-22697379 chr22:22697368-22697384 chr22:22697369-22697390

No.	Distal block	Cell Line	Cell type
1	chr22:22696903..22697439-chr22:22814948..22815679,2	K562	blood:
2	chr22:22695766..22698684-chr22:22700906..22703553,2	MCF-7	breast:
3	chr22:22676504..22677010-chr22:22696889..22697870,2	MCF-7	breast:
4	chr22:22555602..22556198-chr22:22696884..22697390,2	K562	blood:
5	chr22:22676137..22677020-chr22:22696880..22697433,3	K562	blood:
6	chr22:22548855..22549613-chr22:22696962..22697508,2	MCF-7	breast:
7	chr22:22696725..22697448-chr22:22725190..22725893,2	K562	blood:

Variant related genes	Relation type
IGLV9-49	TF binding region
ENSG00000232515	TF binding region
ENSG00000232515	Chromatin interaction
ENSG00000211641	Chromatin interaction
ENSG00000211644	Chromatin interaction
ENSG00000232603	Chromatin interaction

Extended variants
information (count: 297 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56193013	1.00[AMR][1000 genomes]
rs57848058	1.00[AMR][1000 genomes]
rs73878410	1.00[AMR][1000 genomes]
rs73880626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73880627	0.87[AFR][1000 genomes]
rs73880643	1.00[AMR][1000 genomes]
rs73880653	1.00[AMR][1000 genomes]
rs73880656	1.00[AMR][1000 genomes]
rs8136261	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	esv2422343	chr22:22298025-23112582	Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
14	nsv432178	chr22:22307519-23222208	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
15	nsv432179	chr22:22307519-23288012	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
16	nsv9875	chr22:22312880-23277895	Strong transcription Bivalent Enhancer Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
17	nsv1063653	chr22:22312927-23087293	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS 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	129 gene(s)	inside rSNPs	diseases
18	nsv1061533	chr22:22312927-23097377	Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking 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	132 gene(s)	inside rSNPs	diseases
19	nsv1063053	chr22:22313127-22702018	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
20	nsv1063119	chr22:22313127-23087154	Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers 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	129 gene(s)	inside rSNPs	diseases
21	nsv1060418	chr22:22313127-23097238	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
22	nsv1060595	chr22:22313127-23122548	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
23	nsv1057610	chr22:22313127-23245889	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
24	nsv1066111	chr22:22315077-23099160	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised 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 target site	130 gene(s)	inside rSNPs	diseases
25	esv2755411	chr22:22322138-23149622	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
26	esv2756590	chr22:22322138-23222208	Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
27	nsv432183	chr22:22322138-23222208	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
28	nsv526328	chr22:22328391-22911060	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS 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	107 gene(s)	inside rSNPs	diseases
29	esv2755870	chr22:22332876-23222208	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
30	nsv459421	chr22:22336512-22911060	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
31	nsv588348	chr22:22336512-22911060	Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers 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	107 gene(s)	inside rSNPs	diseases
32	esv2753191	chr22:22343054-23157485	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers 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	142 gene(s)	inside rSNPs	diseases
33	esv2755227	chr22:22343336-23157485	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
34	esv2754921	chr22:22353066-23278593	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
35	nsv3567	chr22:22375862-23272265	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
36	esv2752535	chr22:22379067-22952239	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
37	esv2753011	chr22:22381768-23157485	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
38	nsv588355	chr22:22384041-23111861	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
39	nsv459426	chr22:22384041-23240027	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
40	nsv459427	chr22:22384041-23240027	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers 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 miRNA target site	162 gene(s)	inside rSNPs	diseases
41	nsv588356	chr22:22384041-23240027	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
42	esv3449995	chr22:22384825-23247356	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
43	nsv1055761	chr22:22386434-23035233	Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
44	esv2755658	chr22:22386434-23222208	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
45	esv2756635	chr22:22386434-23222208	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	156 gene(s)	inside rSNPs	diseases
46	nsv1060460	chr22:22386434-23222279	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
47	nsv1061057	chr22:22386434-23223233	Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS 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 miRNA target site	156 gene(s)	inside rSNPs	diseases
48	esv2753232	chr22:22386446-22706546	ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
49	nsv459430	chr22:22386617-23127585	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
50	nsv459431	chr22:22386617-23224835	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22696000-22697800	Strong transcription	Right Atrium	heart
2	chr22:22697000-22699600	Enhancers	Primary B cells from peripheral blood	blood
3	chr22:22697200-22697600	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr22:22697200-22699400	Enhancers	Primary B cells from cord blood	blood
5	chr22:22697200-22699800	Enhancers	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links