Variant report

Variant	rs16989489
Chromosome Location	chr22:22936620-22936621
allele	C/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	CTCF	chr22:22936474-22936892	GM12878	blood:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
2	YY1	chr22:22936316-22936879	K562	blood:	n/a	chr22:22936615-22936627
3	CTCF	chr22:22936540-22936838	A549	lung:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
4	ZNF143	chr22:22936489-22936889	K562	blood:	n/a	n/a
5	CTCF	chr22:22936535-22936800	MCF-7	breast:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
6	NRF1	chr22:22936537-22936821	GM12878	blood:	n/a	n/a
7	CTCF	chr22:22936487-22936874	IMR90	lung:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
8	CTCF	chr22:22936542-22936793	MCF-7	breast:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
9	RAD21	chr22:22936450-22936914	K562	blood:	n/a	chr22:22936675-22936687 chr22:22936687-22936697 chr22:22936670-22936689 chr22:22936673-22936686 chr22:22936675-22936685
10	ELF1	chr22:22936287-22937389	K562	blood:	n/a	n/a
11	YY1	chr22:22936545-22936767	H1-hESC	embryonic stem cell:	n/a	chr22:22936615-22936627
12	CTCF	chr22:22936600-22936750	GM12875	blood:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
13	CTCF	chr22:22936580-22936730	SK-N-SH_RA	brain:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
14	CTCF	chr22:22936580-22936730	NHEK	skin:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
15	ZMIZ1	chr22:22936506-22936910	K562	blood:	n/a	n/a
16	RAD21	chr22:22936560-22936886	HepG2	liver:	n/a	chr22:22936675-22936687 chr22:22936687-22936697 chr22:22936670-22936689 chr22:22936673-22936686 chr22:22936675-22936685
17	CTCF	chr22:22936580-22936730	HepG2	liver:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
18	CTCF	chr22:22936536-22936856	H1-hESC	embryonic stem cell:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
19	CTCF	chr22:22936580-22936730	BJ	skin:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
20	ATF3	chr22:22936242-22936892	K562	blood:	n/a	chr22:22936594-22936603
21	CTCF	chr22:22936521-22936813	MCF-7	breast:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
22	CTCF	chr22:22936574-22936742	A549	lung:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
23	HCFC1	chr22:22936490-22936874	K562	blood:	n/a	n/a
24	CTCF	chr22:22936620-22936770	HCM	heart:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
25	RAD21	chr22:22936435-22936902	ECC-1	luminal epithelium:	n/a	chr22:22936675-22936687 chr22:22936687-22936697 chr22:22936670-22936689 chr22:22936673-22936686 chr22:22936675-22936685
26	SMC3	chr22:22936492-22936925	GM12878	blood:	n/a	chr22:22936675-22936685 chr22:22936671-22936685
27	CTCF	chr22:22936565-22936785	Kidney_OC	kidney:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
28	CTCF	chr22:22936620-22936770	GM12867	blood:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
29	CTCF	chr22:22936620-22936770	RPTEC	kidney:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
30	EP300	chr22:22936514-22936859	K562	blood:	n/a	n/a
31	MAZ	chr22:22936539-22936810	GM12878	blood:	n/a	n/a
32	CTCF	chr22:22936600-22936750	AG04450	lung:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
33	ZNF384	chr22:22936494-22936864	K562	blood:	n/a	n/a
34	CTCF	chr22:22936580-22936730	GM12865	blood:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
35	CTCF	chr22:22936580-22936730	WERI-Rb-1	eye:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
36	CTCF	chr22:22936560-22936710	MCF-7	breast:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
37	CTCF	chr22:22936551-22936779	GM10266	blood:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
38	CTCF	chr22:22936560-22936710	HCT-116	colon:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
39	CTCF	chr22:22936491-22936822	Gliobla	brain:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
40	RAD21	chr22:22936557-22936802	SK-N-SH_RA	brain:	n/a	chr22:22936675-22936687 chr22:22936687-22936697 chr22:22936670-22936689 chr22:22936673-22936686 chr22:22936675-22936685
41	CUX1	chr22:22936443-22936946	K562	blood:	n/a	n/a
42	CTCF	chr22:22936520-22936670	HMEC	breast:	n/a	n/a
43	JUND	chr22:22936486-22936927	K562	blood:	n/a	chr22:22936595-22936604 chr22:22936734-22936742 chr22:22936739-22936748 chr22:22936735-22936742
44	CTCF	chr22:22936311-22936939	K562	blood:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
45	CTCF	chr22:22936388-22936872	K562	blood:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
46	MAX	chr22:22936529-22936815	K562	blood:	n/a	n/a
47	YY1	chr22:22936529-22936790	GM12892	blood:	n/a	chr22:22936615-22936627
48	CTCF	chr22:22936600-22936750	Hela-S3	cervix:	n/a	chr22:22936674-22936684 chr22:22936672-22936685 chr22:22936669-22936687 chr22:22936672-22936681 chr22:22936670-22936686 chr22:22936671-22936692
49	ATF1	chr22:22936454-22936875	K562	blood:	n/a	n/a
50	STAT5A	chr22:22936308-22937170	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:22936093..22936855-chr22:23029313..23030340,3	K562	blood:
2	chr22:18953306..18954876-chr22:22934312..22936649,2	K562	blood:
3	chr22:22901204..22902181-chr22:22936191..22937061,2	K562	blood:

Variant related genes	Relation type
IGLV3-32	TF binding region
ENSG00000220891	Chromatin interaction
ENSG00000185686	Chromatin interaction

Extended variants
information (count: 455 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11704216	1.00[JPT][hapmap]
rs12484816	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs16989048	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs16989499	1.00[JPT][hapmap]
rs2164667	1.00[JPT][hapmap]
rs2330095	1.00[CEU][hapmap]
rs4050704	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs424233	1.00[JPT][hapmap]
rs57874730	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5996349	1.00[JPT][hapmap]
rs6002283	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6002423	1.00[JPT][hapmap]
rs6003293	1.00[JPT][hapmap]
rs8140385	1.00[JPT][hapmap]
rs930345	0.81[ASW][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:440 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	nsv588359	chr22:22386617-23224835	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
41	nsv459432	chr22:22386617-23234792	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer 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	158 gene(s)	inside rSNPs	diseases
42	nsv459433	chr22:22386617-23240027	Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
43	nsv588360	chr22:22386617-23240027	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats 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	162 gene(s)	inside rSNPs	diseases
44	esv2755620	chr22:22388086-23080858	Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
45	nsv588361	chr22:22388332-23127585	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer 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	130 gene(s)	inside rSNPs	diseases
46	nsv817937	chr22:22388332-23176986	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats 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	148 gene(s)	inside rSNPs	diseases
47	nsv1066671	chr22:22391648-23238920	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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
48	nsv588367	chr22:22395035-23224058	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS 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
49	esv2755212	chr22:22398726-23157485	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers 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 target site	142 gene(s)	inside rSNPs	diseases
50	nsv459434	chr22:22400423-23071228	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22931800-22936800	Weak transcription	Primary B cells from cord blood	blood
2	chr22:22934400-22938000	Strong transcription	Right Atrium	heart
3	chr22:22936400-22937000	Enhancers	Primary B cells from peripheral blood	blood
4	chr22:22936400-22937200	Enhancers	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links