Variant report

Variant	rs56935344
Chromosome Location	chr22:20784909-20784910
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	ELF1	chr22:20784541-20784934	K562	blood:	n/a	n/a
2	MAZ	chr22:20784837-20784978	K562	blood:	n/a	chr22:20784929-20784939
3	MAX	chr22:20783089-20786463	K562	blood:	n/a	chr22:20786173-20786183 chr22:20784929-20784939
4	MAX	chr22:20784704-20784953	K562	blood:	n/a	chr22:20784929-20784939
5	NFIC	chr22:20784834-20786036	ECC-1	luminal epithelium:	n/a	n/a
6	THAP1	chr22:20782972-20785304	K562	blood:	n/a	n/a
7	E2F6	chr22:20784640-20785839	A549	lung:	n/a	chr22:20785445-20785453
8	YY1	chr22:20784806-20785235	ECC-1	luminal epithelium:	n/a	n/a
9	E2F6	chr22:20784648-20785165	K562	blood:	n/a	n/a
10	MAX	chr22:20784773-20785907	ECC-1	luminal epithelium:	n/a	chr22:20784929-20784939
11	NR2F2	chr22:20783123-20785303	K562	blood:	n/a	n/a
12	CHD2	chr22:20784894-20785642	H1-hESC	embryonic stem cell:	n/a	n/a
13	E2F6	chr22:20784672-20784978	K562	blood:	n/a	n/a
14	TBL1XR1	chr22:20784776-20784926	K562	blood:	n/a	n/a
15	TEAD4	chr22:20783074-20785159	K562	blood:	n/a	n/a
16	GABPA	chr22:20784750-20785138	H1-hESC	embryonic stem cell:	n/a	n/a
17	E2F6	chr22:20784683-20786464	H1-hESC	embryonic stem cell:	n/a	chr22:20785445-20785453 chr22:20786172-20786181
18	MAX	chr22:20784660-20786580	H1-hESC	embryonic stem cell:	n/a	chr22:20786173-20786183 chr22:20784929-20784939
19	CTCF	chr22:20784840-20784990	HRE	kidney:	n/a	n/a
20	YY1	chr22:20784272-20785450	K562	blood:	n/a	chr22:20784369-20784383
21	MAX	chr22:20784769-20786345	ECC-1	luminal epithelium:	n/a	chr22:20786173-20786183 chr22:20784929-20784939
22	E2F6	chr22:20784531-20786498	H1-hESC	embryonic stem cell:	n/a	chr22:20785445-20785453 chr22:20786172-20786181
23	SETDB1	chr22:20784630-20785654	K562	blood:	n/a	n/a
24	ZBTB7A	chr22:20783380-20785021	K562	blood:	n/a	chr22:20783710-20783717
25	TCF12	chr22:20784885-20786005	ECC-1	luminal epithelium:	n/a	n/a
26	ELF1	chr22:20784874-20785583	MCF-7	breast:	n/a	n/a
27	CBX3	chr22:20783160-20785471	K562	blood:	n/a	n/a
28	CEBPB	chr22:20784781-20785013	K562	blood:	n/a	n/a
29	YY1	chr22:20784734-20785172	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr22:20784800-20784950	AG04449	skin:	n/a	n/a
31	MAX	chr22:20784799-20785966	MCF-7	breast:	n/a	chr22:20784929-20784939
32	MYC	chr22:20784885-20784945	MCF-7	breast:	n/a	chr22:20784929-20784939
33	YY1	chr22:20784720-20785562	ECC-1	luminal epithelium:	n/a	n/a
34	NFIC	chr22:20784867-20785963	ECC-1	luminal epithelium:	n/a	n/a
35	YY1	chr22:20784551-20785115	K562	blood:	n/a	n/a
36	CTCF	chr22:20784780-20784930	GM12868	blood:	n/a	n/a
37	MAX	chr22:20784552-20785936	A549	lung:	n/a	chr22:20784929-20784939
38	POLR2A	chr22:20784674-20785912	H1-neurons	neurons:	n/a	n/a
39	SUZ12	chr22:20784818-20785760	H1-hESC	embryonic stem cell:	n/a	n/a
40	HMGN3	chr22:20783214-20785651	K562	blood:	n/a	n/a
41	MAX	chr22:20784852-20785736	H1-hESC	embryonic stem cell:	n/a	chr22:20784929-20784939
42	MAX	chr22:20784720-20786497	H1-hESC	embryonic stem cell:	n/a	chr22:20786173-20786183 chr22:20784929-20784939
43	E2F6	chr22:20783725-20785339	K562	blood:	n/a	n/a
44	GABPA	chr22:20783083-20785400	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:20745421..20750259-chr22:20781607..20786254,5	K562	blood:
2	chr22:20784513..20786753-chr22:20791134..20793355,2	MCF-7	breast:
3	chr22:20747868..20750073-chr22:20782291..20786147,3	K562	blood:
4	chr22:20782547..20785284-chr22:20848903..20851402,3	K562	blood:
5	chr22:20783145..20785116-chr22:20860799..20864007,3	K562	blood:
6	chr22:20783526..20786836-chr22:20848696..20851807,5	MCF-7	breast:
7	chr22:20781842..20784982-chr22:20798949..20802436,4	K562	blood:
8	chr22:20783622..20785284-chr22:20849880..20851402,2	K562	blood:
9	chr22:20784366..20786092-chr22:20843080..20844600,2	K562	blood:
10	chr22:20784374..20787120-chr22:20877059..20879409,2	K562	blood:
11	chr22:20783145..20785563-chr22:20860799..20863807,3	K562	blood:

Variant related genes	Relation type
SCARF2	TF binding region
ENSG00000185252	Chromatin interaction
ENSG00000099910	Chromatin interaction
ENSG00000244486	Chromatin interaction
ENSG00000099917	Chromatin interaction
ENSG00000236003	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1076486	0.89[EUR][1000 genomes]
rs1123521	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1319199	0.89[EUR][1000 genomes]
rs2241230	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2241231	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35574298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4823020	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4823021	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5752645	0.89[EUR][1000 genomes]
rs57590287	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5762277	0.86[EUR][1000 genomes]
rs5762477	0.89[EUR][1000 genomes]
rs5763252	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61318380	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518950	chr22:20306993-20965555	Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
2	nsv432174	chr22:20309346-21102446	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
3	nsv1059066	chr22:20330744-20845128	Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
4	nsv1056614	chr22:20470598-21462724	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
5	nsv828954	chr22:20641693-20904711	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv491637	chr22:20659547-21440514	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer 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 miRNA target site	102 gene(s)	inside rSNPs	diseases
7	nsv916634	chr22:20659547-21464119	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
8	nsv533942	chr22:20659547-21505417	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
9	nsv529472	chr22:20659547-21561514	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer 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	107 gene(s)	inside rSNPs	diseases
10	nsv914390	chr22:20697466-21460008	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats 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	100 gene(s)	inside rSNPs	diseases
11	nsv588291	chr22:20698139-21461274	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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	100 gene(s)	inside rSNPs	diseases
12	nsv917647	chr22:20708889-21440515	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
13	nsv531742	chr22:20708890-21407690	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
14	nsv533852	chr22:20708890-21561514	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS 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	104 gene(s)	inside rSNPs	diseases
15	nsv1061867	chr22:20716924-21462446	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
16	nsv1058870	chr22:20716924-21567219	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
17	nsv918225	chr22:20716924-21611338	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
18	nsv914391	chr22:20718116-20793914	Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
19	nsv914392	chr22:20718116-20817808	Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
20	nsv914393	chr22:20718116-21034788	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
21	nsv531744	chr22:20718170-21427936	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer 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 miRNA target site	99 gene(s)	inside rSNPs	diseases
22	nsv834135	chr22:20724378-20845563	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
23	nsv915954	chr22:20732437-21505417	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
24	nsv588293	chr22:20732809-21004476	Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
25	nsv948669	chr22:20732809-21461607	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
26	nsv531746	chr22:20733427-21505417	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
27	nsv588294	chr22:20733495-21365384	Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
28	nsv588295	chr22:20733495-21462353	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
29	nsv588296	chr22:20733495-21465780	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised 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	99 gene(s)	inside rSNPs	diseases
30	nsv1061472	chr22:20734244-20858186	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
31	nsv1056065	chr22:20734244-21460658	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
32	nsv544586	chr22:20734244-21460658	Strong transcription Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer 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	99 gene(s)	inside rSNPs	diseases
33	nsv834136	chr22:20738730-20891767	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
34	nsv1067074	chr22:20739124-21440654	Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
35	nsv544587	chr22:20739124-21440654	Weak transcription Strong transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
36	nsv1066482	chr22:20739125-21440655	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
37	nsv544588	chr22:20739125-21440655	Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
38	nsv1065725	chr22:20739324-20927615	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
39	nsv544589	chr22:20739324-20927615	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
40	nsv1063333	chr22:20739324-21353297	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
41	nsv544590	chr22:20739324-21353297	Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers 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 target site	78 gene(s)	inside rSNPs	diseases
42	nsv1059978	chr22:20739324-21440515	Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
43	nsv544591	chr22:20739324-21440515	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Strong transcription 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 miRNA target site	99 gene(s)	inside rSNPs	diseases
44	nsv914394	chr22:20741890-20789074	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
45	nsv949306	chr22:20742450-21461607	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
46	nsv523162	chr22:20743536-21462353	Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
47	nsv914396	chr22:20745201-20789074	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
48	nsv914397	chr22:20745201-20806361	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
49	nsv1056565	chr22:20745762-21460658	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
50	nsv914398	chr22:20747763-20793914	Genic enhancers Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20778200-20785400	Weak transcription	HSMM	muscle
2	chr22:20778600-20786200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr22:20778600-20789400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:20779000-20785000	Strong transcription	Muscle Satellite Cultured Cells	--
5	chr22:20779200-20785000	Weak transcription	Left Ventricle	heart
6	chr22:20779200-20785600	Strong transcription	NHLF	lung
7	chr22:20779400-20785200	Strong transcription	Aorta	Aorta
8	chr22:20779600-20789200	Weak transcription	NHDF-Ad	bronchial
9	chr22:20780600-20785200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr22:20780600-20785400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr22:20780800-20785000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr22:20780800-20785000	Strong transcription	Right Atrium	heart
13	chr22:20781400-20785600	Strong transcription	Osteobl	bone
14	chr22:20781600-20785000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr22:20782000-20786600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:20783000-20785200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr22:20783000-20785200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr22:20783000-20785200	Genic enhancers	Spleen	Spleen
19	chr22:20783000-20786200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr22:20783200-20785200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr22:20783200-20785600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr22:20783200-20786000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr22:20783200-20786200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr22:20783200-20786200	Enhancers	Fetal Heart	heart
25	chr22:20783200-20786600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr22:20783400-20785000	Genic enhancers	Stomach Smooth Muscle	stomach
27	chr22:20783400-20785600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr22:20783400-20787200	Weak transcription	HepG2	liver
29	chr22:20783400-20790000	Weak transcription	HSMMtube	muscle
30	chr22:20783600-20786800	Enhancers	Lung	lung
31	chr22:20783600-20789800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr22:20783800-20785200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
33	chr22:20783800-20785200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
34	chr22:20783800-20785200	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr22:20783800-20785200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
36	chr22:20783800-20785400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
37	chr22:20783800-20785800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr22:20783800-20785800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
39	chr22:20783800-20786200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
40	chr22:20784000-20785000	Bivalent Enhancer	Fetal Stomach	stomach
41	chr22:20784000-20785000	Bivalent/Poised TSS	Thymus	Thymus
42	chr22:20784000-20785200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr22:20784000-20785400	Weak transcription	Brain Angular Gyrus	brain
44	chr22:20784000-20785400	Bivalent Enhancer	Fetal Intestine Small	intestine
45	chr22:20784000-20785600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
46	chr22:20784000-20786000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
47	chr22:20784000-20786000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr22:20784000-20786000	Bivalent Enhancer	Fetal Thymus	thymus
49	chr22:20784200-20785000	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
50	chr22:20784200-20785000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links