Variant report

Variant	rs6003245
Chromosome Location	chr22:23062612-23062613
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	POLR2A	chr22:23062612-23064892	GM12891	blood:	n/a	n/a
2	BHLHE40	chr22:23062474-23063482	K562	blood:	n/a	n/a
3	UBTF	chr22:23062565-23063195	K562	blood:	n/a	n/a
4	MAFF	chr22:23062480-23063358	K562	blood:	n/a	n/a
5	CTCF	chr22:23062255-23063388	K562	blood:	n/a	chr22:23062762-23062778 chr22:23062761-23062779 chr22:23062766-23062776 chr22:23062764-23062777 chr22:23062764-23062773 chr22:23062863-23062876
6	ELF1	chr22:23062558-23064235	K562	blood:	n/a	n/a
7	CTCF	chr22:23062427-23063160	SK-N-SH	brain:	n/a	chr22:23062762-23062778 chr22:23062761-23062779 chr22:23062766-23062776 chr22:23062764-23062777 chr22:23062764-23062773 chr22:23062863-23062876
8	ARID3A	chr22:23062560-23063183	K562	blood:	n/a	n/a
9	USF2	chr22:23062422-23063429	K562	blood:	n/a	n/a
10	CTCF	chr22:23062380-23063391	HCT-116	colon:	n/a	chr22:23062762-23062778 chr22:23062761-23062779 chr22:23062766-23062776 chr22:23062764-23062777 chr22:23062764-23062773 chr22:23062863-23062876
11	CTCF	chr22:23062301-23063547	K562	blood:	n/a	chr22:23062762-23062778 chr22:23062761-23062779 chr22:23062766-23062776 chr22:23062764-23062777 chr22:23062764-23062773 chr22:23062863-23062876
12	RAD21	chr22:23062590-23063123	K562	blood:	n/a	chr22:23062762-23062781 chr22:23062765-23062778 chr22:23062767-23062777 chr22:23062869-23062876 chr22:23062767-23062779
13	ZNF143	chr22:23062524-23063333	K562	blood:	n/a	n/a
14	RAD21	chr22:23062537-23063051	H1-hESC	embryonic stem cell:	n/a	chr22:23062762-23062781 chr22:23062765-23062778 chr22:23062767-23062777 chr22:23062869-23062876 chr22:23062767-23062779
15	TBL1XR1	chr22:23062475-23063289	K562	blood:	n/a	n/a
16	POLR2A	chr22:23062540-23062654	MCF10A-Er-Src	breast:	n/a	n/a
17	RELA	chr22:23062601-23063795	GM18951	blood:	n/a	n/a
18	CTCF	chr22:23062492-23063276	K562	blood:	n/a	chr22:23062762-23062778 chr22:23062761-23062779 chr22:23062766-23062776 chr22:23062764-23062777 chr22:23062764-23062773 chr22:23062863-23062876
19	MAFK	chr22:23062519-23063463	K562	blood:	n/a	n/a
20	MAZ	chr22:23062586-23063295	K562	blood:	n/a	n/a
21	CTCF	chr22:23062560-23062710	HAc	cerebellar:	n/a	n/a
22	CTCF	chr22:23062547-23063098	H1-hESC	embryonic stem cell:	n/a	chr22:23062762-23062778 chr22:23062761-23062779 chr22:23062766-23062776 chr22:23062764-23062777 chr22:23062764-23062773 chr22:23062863-23062876
23	HCFC1	chr22:23062515-23063435	K562	blood:	n/a	n/a
24	SP2	chr22:23062114-23064311	K562	blood:	n/a	n/a
25	CUX1	chr22:23061843-23063417	K562	blood:	n/a	n/a
26	CTCF	chr22:23062492-23063283	MCF-7	breast:	n/a	chr22:23062762-23062778 chr22:23062761-23062779 chr22:23062766-23062776 chr22:23062764-23062777 chr22:23062764-23062773 chr22:23062863-23062876
27	MXI1	chr22:23062529-23063126	K562	blood:	n/a	n/a
28	JUN	chr22:23062198-23063155	K562	blood:	n/a	n/a
29	EP300	chr22:23062568-23063222	K562	blood:	n/a	n/a
30	ATF1	chr22:23062505-23065315	K562	blood:	n/a	n/a
31	RCOR1	chr22:23062448-23063371	K562	blood:	n/a	n/a
32	CTCF	chr22:23062609-23062878	SK-N-SH_RA	brain:	n/a	chr22:23062762-23062778 chr22:23062761-23062779 chr22:23062766-23062776 chr22:23062764-23062777 chr22:23062764-23062773 chr22:23062863-23062876
33	RCOR1	chr22:23062574-23063297	K562	blood:	n/a	n/a
34	CTCF	chr22:23062463-23063294	HCT-116	colon:	n/a	chr22:23062762-23062778 chr22:23062761-23062779 chr22:23062766-23062776 chr22:23062764-23062777 chr22:23062764-23062773 chr22:23062863-23062876
35	POU2F2	chr22:23062557-23063310	GM12878	blood:	n/a	chr22:23063048-23063063 chr22:23063050-23063060 chr22:23063051-23063060 chr22:23062994-23063001 chr22:23063052-23063059
36	ELK1	chr22:23062607-23063256	K562	blood:	n/a	n/a
37	SMC3	chr22:23062589-23063192	K562	blood:	n/a	chr22:23062767-23062777 chr22:23062763-23062777
38	RAD21	chr22:23062598-23063053	HepG2	liver:	n/a	chr22:23062762-23062781 chr22:23062765-23062778 chr22:23062767-23062777 chr22:23062869-23062876 chr22:23062767-23062779
39	JUND	chr22:23062572-23063357	K562	blood:	n/a	n/a
40	STAT5A	chr22:23061662-23063639	K562	blood:	n/a	n/a
41	MYC	chr22:23062600-23063243	K562	blood:	n/a	n/a
42	MYC	chr22:23062601-23063545	MCF10A-Er-Src	breast:	n/a	n/a
43	TBP	chr22:23062435-23063305	K562	blood:	n/a	n/a
44	ZMIZ1	chr22:23062522-23063465	K562	blood:	n/a	n/a
45	CTCF	chr22:23062606-23063084	ECC-1	luminal epithelium:	n/a	chr22:23062762-23062778 chr22:23062761-23062779 chr22:23062766-23062776 chr22:23062764-23062777 chr22:23062764-23062773 chr22:23062863-23062876
46	RAD21	chr22:23062606-23063133	GM12878	blood:	n/a	chr22:23062762-23062781 chr22:23062765-23062778 chr22:23062767-23062777 chr22:23062869-23062876 chr22:23062767-23062779
47	IRF1	chr22:23062503-23063438	K562	blood:	n/a	n/a
48	CTCF	chr22:23062592-23063217	GM12878	blood:	n/a	chr22:23062762-23062778 chr22:23062761-23062779 chr22:23062766-23062776 chr22:23062764-23062777 chr22:23062764-23062773 chr22:23062863-23062876
49	CTCF	chr22:23062508-23063290	MCF-7	breast:	n/a	chr22:23062762-23062778 chr22:23062761-23062779 chr22:23062766-23062776 chr22:23062764-23062777 chr22:23062764-23062773 chr22:23062863-23062876
50	RAD21	chr22:23062555-23063129	ECC-1	luminal epithelium:	n/a	chr22:23062762-23062781 chr22:23062765-23062778 chr22:23062767-23062777 chr22:23062869-23062876 chr22:23062767-23062779

No.	Distal block	Cell Line	Cell type
1	chr22:22939142..22942340-chr22:23059159..23062828,3	K562	blood:
2	chr22:23056445..23059038-chr22:23062165..23064333,2	MCF-7	breast:
3	chr22:22936334..22937118-chr22:23062451..23063036,3	K562	blood:
4	chr22:23034627..23035920-chr22:23062552..23063228,3	K562	blood:
5	chr22:23052869..23054350-chr22:23062184..23064503,9	K562	blood:
6	chr22:23061644..23064154-chr22:23089157..23090984,2	K562	blood:
7	chr22:23044807..23045428-chr22:23062295..23063052,3	MCF-7	breast:
8	chr22:22785541..22786511-chr22:23062072..23063265,3	K562	blood:
9	chr22:23062281..23063095-chr22:23088193..23088767,2	K562	blood:

Variant related genes	Relation type
IGLV3-19	TF binding region
ENSG00000211657	Chromatin interaction
ENSG00000223999	Chromatin interaction
ENSG00000211665	Chromatin interaction
ENSG00000254240	Chromatin interaction
ENSG00000211655	Chromatin interaction
ENSG00000211662	Chromatin interaction

Extended variants
information (count: 642 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11090178	1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11704908	1.00[TSI][hapmap]
rs11912861	1.00[TSI][hapmap]
rs12158984	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12484427	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.80[MEX][hapmap];1.00[ASN][1000 genomes]
rs2014503	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2285453	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2285456	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2285457	1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs2304532	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28370403	0.90[ASN][1000 genomes]
rs28398287	0.90[ASN][1000 genomes]
rs34597192	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4634036	1.00[TSI][hapmap]
rs5759494	1.00[TSI][hapmap]
rs5996370	0.92[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs5996373	0.90[ASN][1000 genomes]
rs6003238	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6003239	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6003244	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6003248	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6003264	1.00[ASN][1000 genomes]
rs6003271	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6003279	0.81[ASN][1000 genomes]
rs6003337	1.00[TSI][hapmap]
rs61733354	0.80[AMR][1000 genomes]
rs7288354	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs73878734	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9620166	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:613 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	nsv588368	chr22:22400423-23071228	Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
49	nsv588369	chr22:22401006-23234792	Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Active 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 miRNA target site	158 gene(s)	inside rSNPs	diseases
50	esv2753932	chr22:22417696-23157485	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active 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	141 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23056200-23063200	Weak transcription	Spleen	Spleen
2	chr22:23056800-23070000	Weak transcription	Right Atrium	heart
3	chr22:23060200-23063000	Weak transcription	HSMM	muscle
4	chr22:23060600-23062800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr22:23061000-23065400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr22:23061800-23064800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr22:23061800-23065200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr22:23062000-23064800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr22:23062200-23063000	Enhancers	Primary B cells from cord blood	blood
10	chr22:23062200-23063200	Enhancers	Primary B cells from peripheral blood	blood
11	chr22:23062200-23063400	Weak transcription	Osteobl	bone
12	chr22:23062200-23064400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr22:23062200-23065000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr22:23062400-23062800	Enhancers	GM12878-XiMat	blood
15	chr22:23062400-23063600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr22:23062400-23064200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr22:23062400-23064800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr22:23062600-23063200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr22:23062600-23063400	Bivalent Enhancer	K562	blood
20	chr22:23062600-23064200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr22:23062600-23064400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr22:23062600-23064400	Enhancers	Adipose Nuclei	Adipose
23	chr22:23062600-23064400	Enhancers	Placenta	Placenta
24	chr22:23062600-23064600	Enhancers	Duodenum Mucosa	Duodenum
25	chr22:23062600-23064800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr22:23062600-23065000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr22:23062600-23065400	Enhancers	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links