Variant report

Variant	rs559957305
Chromosome Location	chr21:46847359-46847360
allele	G/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	JUND	chr21:46847337-46848047	HepG2	liver:	n/a	chr21:46847802-46847811 chr21:46847802-46847812 chr21:46847507-46847516 chr21:46847801-46847812 chr21:46847802-46847812 chr21:46847801-46847813 chr21:46847802-46847812
2	MAX	chr21:46847221-46848211	ECC-1	luminal epithelium:	n/a	chr21:46847676-46847692 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684
3	HDAC2	chr21:46847228-46847906	HepG2	liver:	n/a	chr21:46847587-46847595
4	MAX	chr21:46847045-46848275	A549	lung:	n/a	chr21:46847676-46847692 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684
5	JUND	chr21:46846820-46848294	SK-N-SH	brain:	n/a	chr21:46847802-46847811 chr21:46847802-46847812 chr21:46847507-46847516 chr21:46847801-46847812 chr21:46847802-46847812 chr21:46847292-46847300 chr21:46847801-46847813 chr21:46847802-46847812
6	POLR2A	chr21:46847250-46847998	HepG2	liver:	n/a	n/a
7	HNF4A	chr21:46847339-46847806	HepG2	liver:	n/a	chr21:46847587-46847599 chr21:46847459-46847481 chr21:46847585-46847593 chr21:46847586-46847601 chr21:46847586-46847601 chr21:46847587-46847595
8	TCF12	chr21:46847191-46848222	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr21:46846385-46848351	PANC-1	pancreas:	n/a	n/a
10	ESR1	chr21:46847154-46847586	ECC-1	luminal epithelium:	n/a	n/a
11	SMARCC1	chr21:46847192-46848201	Hela-S3	cervix:	n/a	chr21:46847802-46847811
12	USF1	chr21:46847332-46847981	HepG2	liver:	n/a	chr21:46847672-46847685 chr21:46847675-46847684 chr21:46847668-46847689 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684
13	FOSL1	chr21:46847342-46848087	HCT-116	colon:	n/a	chr21:46847802-46847811 chr21:46847801-46847812 chr21:46847802-46847812 chr21:46847507-46847516 chr21:46847802-46847812 chr21:46847801-46847813 chr21:46847802-46847812
14	YY1	chr21:46847266-46847969	HepG2	liver:	n/a	n/a
15	MXI1	chr21:46847294-46848167	HepG2	liver:	n/a	n/a
16	E2F6	chr21:46847145-46848092	A549	lung:	n/a	chr21:46847508-46847517 chr21:46847816-46847826
17	MAX	chr21:46847144-46848272	HepG2	liver:	n/a	chr21:46847676-46847692 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684
18	SP1	chr21:46847245-46848125	A549	lung:	n/a	chr21:46847411-46847423 chr21:46847412-46847426
19	POLR2A	chr21:46847282-46848023	A549	lung:	n/a	n/a
20	USF1	chr21:46847286-46848082	ECC-1	luminal epithelium:	n/a	chr21:46847672-46847685 chr21:46847675-46847684 chr21:46847668-46847689 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684
21	MAZ	chr21:46847122-46848224	IMR90	lung:	n/a	chr21:46847676-46847692 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684
22	ESR1	chr21:46847147-46848125	ECC-1	luminal epithelium:	n/a	n/a
23	SP1	chr21:46847346-46847996	HepG2	liver:	n/a	chr21:46847411-46847423 chr21:46847412-46847426
24	MAX	chr21:46847154-46848262	HepG2	liver:	n/a	chr21:46847676-46847692 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684
25	TCF12	chr21:46847195-46848144	A549	lung:	n/a	n/a
26	MAX	chr21:46847306-46848210	MCF-7	breast:	n/a	chr21:46847676-46847692 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684
27	MAX	chr21:46847130-46848187	A549	lung:	n/a	chr21:46847676-46847692 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684
28	TEAD4	chr21:46847209-46848082	HepG2	liver:	n/a	n/a
29	ESR1	chr21:46847255-46848020	ECC-1	luminal epithelium:	n/a	n/a
30	USF1	chr21:46847250-46848151	ECC-1	luminal epithelium:	n/a	chr21:46847672-46847685 chr21:46847675-46847684 chr21:46847668-46847689 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684
31	SIN3AK20	chr21:46847295-46848299	MCF-7	breast:	n/a	n/a
32	ZBTB7A	chr21:46847149-46848084	ECC-1	luminal epithelium:	n/a	n/a
33	TEAD4	chr21:46847272-46848078	ECC-1	luminal epithelium:	n/a	n/a
34	E2F6	chr21:46847292-46847989	A549	lung:	n/a	chr21:46847508-46847517 chr21:46847816-46847826
35	MAZ	chr21:46847211-46848133	HepG2	liver:	n/a	chr21:46847676-46847692 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684
36	MAX	chr21:46847343-46848070	Hela-S3	cervix:	n/a	chr21:46847676-46847692 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684
37	JUN	chr21:46847246-46848262	K562	blood:	n/a	chr21:46847802-46847811 chr21:46847802-46847812 chr21:46847507-46847516 chr21:46847802-46847812 chr21:46847292-46847300 chr21:46847801-46847813 chr21:46847802-46847812
38	MXI1	chr21:46847017-46848275	IMR90	lung:	n/a	n/a
39	MAX	chr21:46847213-46848270	HCT-116	colon:	n/a	chr21:46847676-46847692 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684
40	MAX	chr21:46847198-46848273	ECC-1	luminal epithelium:	n/a	chr21:46847676-46847692 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684
41	NFIC	chr21:46847227-46848269	ECC-1	luminal epithelium:	n/a	chr21:46847917-46847933
42	POLR2A	chr21:46846413-46848307	PANC-1	pancreas:	n/a	n/a
43	MAX	chr21:46847241-46848088	HepG2	liver:	n/a	chr21:46847676-46847692 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684
44	USF1	chr21:46847310-46848036	SK-N-SH	brain:	n/a	chr21:46847672-46847685 chr21:46847675-46847684 chr21:46847668-46847689 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684
45	ESR1	chr21:46847206-46848036	ECC-1	luminal epithelium:	n/a	n/a
46	MYBL2	chr21:46847261-46848092	HepG2	liver:	n/a	n/a
47	ZBTB7A	chr21:46847110-46848145	ECC-1	luminal epithelium:	n/a	n/a
48	EP300	chr21:46847320-46847999	HepG2	liver:	n/a	chr21:46847529-46847545 chr21:46847416-46847432 chr21:46847803-46847812
49	NR3C1	chr21:46847286-46848218	A549	lung:	n/a	n/a
50	BHLHE40	chr21:46847285-46848054	HepG2	liver:	n/a	chr21:46847672-46847685 chr21:46847675-46847684 chr21:46847668-46847689 chr21:46847674-46847683 chr21:46847674-46847683

No.	Distal block	Cell Line	Cell type
1	chr21:46821077..46829630-chr21:46845223..46853912,19	MCF-7	breast:
2	chr21:46845516..46850267-chr21:46850459..46856499,8	K562	blood:
3	chr21:46727455..46729208-chr21:46846804..46849388,2	MCF-7	breast:
4	chr21:46748175..46751786-chr21:46846274..46851990,8	MCF-7	breast:
5	chr21:46806364..46807229-chr21:46847333..46848279,7	MCF-7	breast:
6	chr21:46780359..46782550-chr21:46847058..46849982,2	K562	blood:
7	chr21:46743427..46746630-chr21:46846021..46849550,3	MCF-7	breast:
8	chr21:46747051..46752396-chr21:46845413..46850647,11	MCF-7	breast:
9	chr21:46847337..46850247-chr21:46959405..46962338,2	MCF-7	breast:
10	chr21:46709020..46713873-chr21:46844930..46849148,6	MCF-7	breast:
11	chr21:46845674..46847482-chr21:46860564..46863097,2	MCF-7	breast:
12	chr21:46845602..46847736-chr21:46866609..46868379,2	MCF-7	breast:
13	chr21:46706411..46709324-chr21:46847023..46849154,2	K562	blood:

Variant related genes	Relation type
COL18A1-AS1	TF binding region
ENSG00000182871	Chromatin interaction
ENSG00000186866	Chromatin interaction
ENSG00000223768	Chromatin interaction
ENSG00000173638	Chromatin interaction
ENSG00000215447	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1063721	chr21:46610599-46907894	Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS 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	58 gene(s)	inside rSNPs	diseases
3	nsv1059779	chr21:46611859-46891352	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription 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	55 gene(s)	inside rSNPs	diseases
4	nsv544485	chr21:46611859-46891352	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription 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	55 gene(s)	inside rSNPs	diseases
5	nsv914001	chr21:46647078-46944113	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
6	nsv914002	chr21:46655638-46945024	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer 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	57 gene(s)	inside rSNPs	diseases
7	nsv1057807	chr21:46656346-47077374	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
8	esv2762114	chr21:46680202-47067744	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
9	nsv914009	chr21:46684517-46908355	Enhancers Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS 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	55 gene(s)	inside rSNPs	diseases
10	nsv1057661	chr21:46687476-46961041	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
11	nsv914012	chr21:46695039-47015661	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats 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	66 gene(s)	inside rSNPs	diseases
12	nsv531547	chr21:46698078-46850908	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
13	nsv1060369	chr21:46719445-46882338	Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
14	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
15	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
16	nsv459303	chr21:46720010-46848589	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
17	nsv470909	chr21:46720010-46848589	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
18	nsv587843	chr21:46720010-46848589	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
19	esv1799934	chr21:46737751-46959154	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	42 gene(s)	inside rSNPs	diseases
20	nsv914026	chr21:46746161-46857781	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
21	nsv1057607	chr21:46753333-46883158	Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
22	nsv1060671	chr21:46754466-46882338	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
23	nsv544487	chr21:46754466-46882338	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
24	nsv914027	chr21:46765580-46982335	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
25	esv1794926	chr21:46781404-46965534	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
26	nsv914029	chr21:46795214-46848282	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
27	nsv914031	chr21:46802952-46952750	Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
28	nsv914034	chr21:46809884-46903021	Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
29	nsv914035	chr21:46816363-46912386	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
30	nsv914036	chr21:46816363-46936958	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
31	nsv914037	chr21:46816363-46982335	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
32	nsv914038	chr21:46817380-46964378	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
33	nsv914039	chr21:46818782-46912386	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
34	nsv914040	chr21:46818782-46936423	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS 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	25 gene(s)	inside rSNPs	diseases
35	nsv1058685	chr21:46819364-46967996	Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
36	nsv914041	chr21:46821907-46899119	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
37	nsv914042	chr21:46821907-46919132	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
38	nsv914043	chr21:46821907-46936958	Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
39	nsv914044	chr21:46821907-46982335	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
40	nsv1056917	chr21:46822253-46976682	Enhancers Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS 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	40 gene(s)	inside rSNPs	diseases
41	nsv1061626	chr21:46830542-46961041	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS 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	23 gene(s)	inside rSNPs	diseases
42	nsv914045	chr21:46830873-46931109	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
43	nsv914046	chr21:46830873-46982335	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
44	nsv516407	chr21:46830873-47040656	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
45	nsv914047	chr21:46834814-46904833	Strong transcription Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
46	nsv1066282	chr21:46839570-46966180	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
47	nsv1057447	chr21:46839570-46976682	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
48	nsv914048	chr21:46839904-47032872	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS 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	34 gene(s)	inside rSNPs	diseases
49	nsv834111	chr21:46843086-47005244	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
50	nsv587845	chr21:46846015-46897221	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46830800-46852000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr21:46832400-46850000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:46837800-46850400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr21:46841400-46850200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr21:46841400-46851800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr21:46842000-46847400	Weak transcription	Right Atrium	heart
7	chr21:46842000-46847800	Weak transcription	Colonic Mucosa	Colon
8	chr21:46842000-46851000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr21:46842200-46847800	Weak transcription	Fetal Kidney	kidney
10	chr21:46842200-46849600	Weak transcription	Gastric	stomach
11	chr21:46842200-46856800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr21:46842400-46847400	Weak transcription	Left Ventricle	heart
13	chr21:46843200-46847600	Weak transcription	Right Ventricle	heart
14	chr21:46843600-46847600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr21:46843800-46848200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr21:46844000-46856000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr21:46844400-46848200	Enhancers	Fetal Heart	heart
18	chr21:46844800-46847800	Weak transcription	Fetal Intestine Large	intestine
19	chr21:46845200-46848000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr21:46845600-46847400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr21:46845600-46848200	Enhancers	Pancreas	Pancrea
22	chr21:46845600-46849800	Weak transcription	Spleen	Spleen
23	chr21:46846000-46850000	Weak transcription	Fetal Muscle Leg	muscle
24	chr21:46846200-46848000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr21:46846200-46848200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr21:46846200-46848400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr21:46846400-46848000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr21:46846400-46848000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr21:46846400-46848400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr21:46846400-46848400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr21:46846400-46848400	Enhancers	HMEC	breast
32	chr21:46846600-46847600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr21:46846600-46847800	Weak transcription	Aorta	Aorta
34	chr21:46846600-46848000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr21:46846600-46848200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr21:46846600-46848400	Enhancers	NH-A	brain
37	chr21:46846600-46848400	Enhancers	NHDF-Ad	bronchial
38	chr21:46846800-46847400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr21:46846800-46847600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr21:46846800-46848200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr21:46846800-46848200	Enhancers	HSMM	muscle
42	chr21:46846800-46848200	Enhancers	NHEK	skin
43	chr21:46846800-46848400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr21:46846800-46848400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr21:46846800-46848600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr21:46847000-46847400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr21:46847000-46848000	Enhancers	Adipose Nuclei	Adipose
48	chr21:46847000-46848200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr21:46847000-46848400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr21:46847000-46848400	Enhancers	Muscle Satellite Cultured Cells	--

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