Variant report

Variant	rs566026451
Chromosome Location	chr21:46847972-46847973
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	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	SMC3	chr21:46847523-46848062	Hela-S3	cervix:	n/a	n/a
3	MAX	chr21:46847221-46848211	ECC-1	luminal epithelium:	n/a	chr21:46847676-46847692 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684
4	KAP1	chr21:46847707-46848010	U2OS	brain:	n/a	n/a
5	BCL3	chr21:46847608-46847982	A549	lung:	n/a	chr21:46847951-46847964
6	FOSL2	chr21:46847460-46848082	MCF-7	breast:	n/a	chr21:46847802-46847811 chr21:46847802-46847812 chr21:46847800-46847811 chr21:46847507-46847516 chr21:46847802-46847812 chr21:46847801-46847813 chr21:46847802-46847812
7	JUND	chr21:46847634-46848006	H1-hESC	embryonic stem cell:	n/a	chr21:46847802-46847811 chr21:46847802-46847812 chr21:46847801-46847812 chr21:46847802-46847812 chr21:46847801-46847813 chr21:46847802-46847812
8	MAX	chr21:46847045-46848275	A549	lung:	n/a	chr21:46847676-46847692 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684
9	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
10	ZNF143	chr21:46847895-46848022	K562	blood:	n/a	n/a
11	NFIC	chr21:46847388-46848299	ECC-1	luminal epithelium:	n/a	chr21:46847917-46847933
12	MYC	chr21:46847522-46848111	Hela-S3	cervix:	n/a	chr21:46847676-46847692 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684
13	FOSL1	chr21:46847544-46848016	K562	blood:	n/a	chr21:46847802-46847811 chr21:46847801-46847812 chr21:46847802-46847812 chr21:46847802-46847812 chr21:46847801-46847813 chr21:46847802-46847812
14	USF1	chr21:46847452-46848024	SK-N-SH_RA	brain:	n/a	chr21:46847672-46847685 chr21:46847675-46847684 chr21:46847668-46847689 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684
15	JUN	chr21:46847569-46848024	K562	blood:	n/a	chr21:46847802-46847811 chr21:46847802-46847812 chr21:46847802-46847812 chr21:46847801-46847813 chr21:46847802-46847812
16	POLR2A	chr21:46847250-46847998	HepG2	liver:	n/a	n/a
17	TCF12	chr21:46847191-46848222	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr21:46846385-46848351	PANC-1	pancreas:	n/a	n/a
19	MYC	chr21:46847378-46847984	HepG2	liver:	n/a	chr21:46847676-46847692 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684
20	RFX5	chr21:46847627-46848006	Hela-S3	cervix:	n/a	n/a
21	USF1	chr21:46847390-46848015	A549	lung:	n/a	chr21:46847672-46847685 chr21:46847675-46847684 chr21:46847668-46847689 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684
22	POLR2A	chr21:46847682-46847986	U87	brain:	n/a	n/a
23	FOSL1	chr21:46847363-46848191	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
24	MYC	chr21:46847493-46848193	HUVEC	blood vessel:	n/a	chr21:46847676-46847692 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684
25	JUND	chr21:46847514-46848003	A549	lung:	n/a	chr21:46847802-46847811 chr21:46847802-46847812 chr21:46847801-46847812 chr21:46847802-46847812 chr21:46847801-46847813 chr21:46847802-46847812
26	USF1	chr21:46847383-46848035	A549	lung:	n/a	chr21:46847672-46847685 chr21:46847675-46847684 chr21:46847668-46847689 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684
27	USF2	chr21:46847487-46848005	Hela-S3	cervix:	n/a	chr21:46847672-46847685 chr21:46847675-46847684 chr21:46847668-46847689 chr21:46847673-46847684 chr21:46847674-46847683 chr21:46847674-46847683
28	SMARCC1	chr21:46847192-46848201	Hela-S3	cervix:	n/a	chr21:46847802-46847811
29	NR3C1	chr21:46847590-46848114	A549	lung:	n/a	n/a
30	BHLHE40	chr21:46847475-46847992	K562	blood:	n/a	chr21:46847672-46847685 chr21:46847675-46847684 chr21:46847668-46847689 chr21:46847674-46847683 chr21:46847674-46847683
31	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
32	MYC	chr21:46847611-46848075	MCF-7	breast:	n/a	chr21:46847676-46847692 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684
33	TCF7L2	chr21:46847619-46848088	PANC-1	pancreas:	n/a	chr21:46847802-46847811
34	SIN3AK20	chr21:46847546-46848128	PANC-1	pancreas:	n/a	n/a
35	UBTF	chr21:46847584-46847987	K562	blood:	n/a	n/a
36	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
37	MXI1	chr21:46847294-46848167	HepG2	liver:	n/a	n/a
38	ELK1	chr21:46847649-46848010	Hela-S3	cervix:	n/a	n/a
39	FOS	chr21:46847611-46847999	MCF10A-Er-Src	breast:	n/a	chr21:46847802-46847811 chr21:46847802-46847812 chr21:46847802-46847812 chr21:46847801-46847813 chr21:46847802-46847812 chr21:46847801-46847812
40	E2F6	chr21:46847145-46848092	A549	lung:	n/a	chr21:46847508-46847517 chr21:46847816-46847826
41	MAX	chr21:46847144-46848272	HepG2	liver:	n/a	chr21:46847676-46847692 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684
42	SP1	chr21:46847245-46848125	A549	lung:	n/a	chr21:46847411-46847423 chr21:46847412-46847426
43	MYC	chr21:46847809-46847996	MCF-7	breast:	n/a	n/a
44	POLR2A	chr21:46847282-46848023	A549	lung:	n/a	n/a
45	JUN	chr21:46847622-46848001	Hela-S3	cervix:	n/a	chr21:46847802-46847811 chr21:46847802-46847812 chr21:46847802-46847812 chr21:46847801-46847813 chr21:46847802-46847812
46	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
47	FOSL2	chr21:46847573-46847987	A549	lung:	n/a	chr21:46847802-46847811 chr21:46847802-46847812 chr21:46847800-46847811 chr21:46847802-46847812 chr21:46847801-46847813 chr21:46847802-46847812
48	ZNF143	chr21:46847665-46848113	Hela-S3	cervix:	n/a	chr21:46848088-46848106
49	NR3C1	chr21:46847605-46848075	A549	lung:	n/a	n/a
50	MAZ	chr21:46847122-46848224	IMR90	lung:	n/a	chr21:46847676-46847692 chr21:46847674-46847683 chr21:46847674-46847683 chr21:46847673-46847684

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	chr21:46822960..46823792-chr21:46847550..46848262,2	MCF-7	breast:
4	chr21:46727455..46729208-chr21:46846804..46849388,2	MCF-7	breast:
5	chr21:46748175..46751786-chr21:46846274..46851990,8	MCF-7	breast:
6	chr21:46806364..46807229-chr21:46847333..46848279,7	MCF-7	breast:
7	chr21:46780359..46782550-chr21:46847058..46849982,2	K562	blood:
8	chr21:46743427..46746630-chr21:46846021..46849550,3	MCF-7	breast:
9	chr21:46747051..46752396-chr21:46845413..46850647,11	MCF-7	breast:
10	chr21:46847337..46850247-chr21:46959405..46962338,2	MCF-7	breast:
11	chr21:46709020..46713873-chr21:46844930..46849148,6	MCF-7	breast:
12	chr21:46806329..46807181-chr21:46847386..46848279,6	MCF-7	breast:
13	chr21:46741768..46744187-chr21:46847822..46850658,3	MCF-7	breast:
14	chr21:46840425..46843793-chr21:46847817..46851036,4	K562	blood:
15	chr21:46776357..46778968-chr21:46847509..46849489,2	MCF-7	breast:
16	chr21:46835983..46836570-chr21:46847777..46848282,2	MCF-7	breast:
17	chr21:46782194..46784995-chr21:46847516..46849065,2	MCF-7	breast:
18	chr21:46721769..46723918-chr21:46847428..46849311,2	K562	blood:
19	chr21:46706411..46709324-chr21:46847023..46849154,2	K562	blood:

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

Extended variants
information (count: 53 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:53 , 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:69 , 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	chr21:46842000-46851000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr21:46842200-46849600	Weak transcription	Gastric	stomach
8	chr21:46842200-46856800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr21:46843800-46848200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr21:46844000-46856000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr21:46844400-46848200	Enhancers	Fetal Heart	heart
12	chr21:46845200-46848000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr21:46845600-46848200	Enhancers	Pancreas	Pancrea
14	chr21:46845600-46849800	Weak transcription	Spleen	Spleen
15	chr21:46846000-46850000	Weak transcription	Fetal Muscle Leg	muscle
16	chr21:46846200-46848000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr21:46846200-46848200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr21:46846200-46848400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr21:46846400-46848000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr21:46846400-46848000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr21:46846400-46848400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr21:46846400-46848400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr21:46846400-46848400	Enhancers	HMEC	breast
24	chr21:46846600-46848000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr21:46846600-46848200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr21:46846600-46848400	Enhancers	NH-A	brain
27	chr21:46846600-46848400	Enhancers	NHDF-Ad	bronchial
28	chr21:46846800-46848200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:46846800-46848200	Enhancers	HSMM	muscle
30	chr21:46846800-46848200	Enhancers	NHEK	skin
31	chr21:46846800-46848400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr21:46846800-46848400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr21:46846800-46848600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr21:46847000-46848000	Enhancers	Adipose Nuclei	Adipose
35	chr21:46847000-46848200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr21:46847000-46848400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr21:46847000-46848400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr21:46847000-46848400	Enhancers	HSMMtube	muscle
39	chr21:46847000-46848600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr21:46847000-46848600	Enhancers	HUVEC	blood vessel
41	chr21:46847200-46848000	Flanking Active TSS	Hela-S3	cervix
42	chr21:46847200-46848200	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr21:46847200-46848200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr21:46847200-46848200	Flanking Active TSS	A549	lung
45	chr21:46847200-46848200	Flanking Active TSS	HepG2	liver
46	chr21:46847200-46848400	Enhancers	Esophagus	oesophagus
47	chr21:46847200-46848400	Enhancers	NHLF	lung
48	chr21:46847200-46848600	Enhancers	Ovary	ovary
49	chr21:46847400-46848000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr21:46847400-46848000	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links