Variant report

Variant	rs8129985
Chromosome Location	chr21:46728856-46728857
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	RAD21	chr21:46728821-46729330	MCF-7	breast:	n/a	n/a
2	TBP	chr21:46728458-46729254	HepG2	liver:	n/a	n/a
3	CTCF	chr21:46728645-46728871	NHEK	skin:	n/a	chr21:46728698-46728716
4	RAD21	chr21:46728285-46729386	HepG2	liver:	n/a	chr21:46728698-46728710 chr21:46728699-46728712 chr21:46728696-46728715
5	SMC3	chr21:46728179-46730020	SK-N-SH	brain:	n/a	chr21:46729738-46729752
6	CTCF	chr21:46728639-46728863	MCF-7	breast:	n/a	chr21:46728698-46728716
7	RAD21	chr21:46728301-46729334	ECC-1	luminal epithelium:	n/a	chr21:46728698-46728710 chr21:46728699-46728712 chr21:46728696-46728715
8	HDAC2	chr21:46727981-46729251	HepG2	liver:	n/a	n/a
9	HEY1	chr21:46728285-46728864	HepG2	liver:	n/a	chr21:46728617-46728632
10	RAD21	chr21:46728134-46729602	IMR90	lung:	n/a	chr21:46728698-46728710 chr21:46728699-46728712 chr21:46728696-46728715
11	BHLHE40	chr21:46726878-46729243	HepG2	liver:	n/a	n/a
12	RAD21	chr21:46728827-46729376	H1-hESC	embryonic stem cell:	n/a	n/a
13	MYBL2	chr21:46728260-46729156	HepG2	liver:	n/a	n/a
14	POLR2A	chr21:46727756-46729321	HepG2	liver:	n/a	n/a
15	CTCF	chr21:46728623-46729326	A549	lung:	n/a	chr21:46728698-46728716
16	SMC3	chr21:46728412-46729332	HepG2	liver:	n/a	n/a
17	ZNF263	chr21:46728846-46729364	HEK293-T-REx	kidney:	n/a	chr21:46729077-46729098
18	CTCF	chr21:46728511-46728882	HepG2	liver:	n/a	chr21:46728698-46728716
19	POLR2A	chr21:46728734-46729649	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr21:46728528-46728874	K562	blood:	n/a	chr21:46728698-46728716
21	CTCF	chr21:46728555-46729770	A549	lung:	n/a	chr21:46729739-46729752 chr21:46728698-46728716 chr21:46729738-46729759 chr21:46729736-46729754
22	CTCF	chr21:46728373-46730263	SK-N-SH	brain:	n/a	chr21:46729739-46729752 chr21:46728698-46728716 chr21:46729738-46729759 chr21:46729736-46729754
23	MAX	chr21:46728819-46729436	A549	lung:	n/a	chr21:46729375-46729384
24	HNF4A	chr21:46728379-46729273	HepG2	liver:	n/a	chr21:46728888-46728904 chr21:46728892-46728899 chr21:46728591-46728606 chr21:46728599-46728607
25	POLR2A	chr21:46725629-46729568	IMR90	lung:	n/a	n/a
26	RAD21	chr21:46728446-46729250	HepG2	liver:	n/a	chr21:46728698-46728710 chr21:46728699-46728712 chr21:46728696-46728715
27	POLR2A	chr21:46728304-46729111	HepG2	liver:	n/a	n/a
28	POLR2A	chr21:46728200-46728856	HepG2	liver:	n/a	n/a
29	CTCF	chr21:46728720-46728870	NB4	blood:	n/a	n/a
30	RAD21	chr21:46728497-46729398	A549	lung:	n/a	chr21:46728698-46728710 chr21:46728699-46728712 chr21:46728696-46728715
31	MBD4	chr21:46728038-46728975	HepG2	liver:	n/a	n/a
32	CTCF	chr21:46728720-46728870	HL-60	blood:	n/a	n/a
33	EP300	chr21:46728392-46729258	HepG2	liver:	n/a	chr21:46728410-46728426
34	CTCF	chr21:46728760-46728910	GM12872	blood:	n/a	n/a
35	MAZ	chr21:46727916-46729410	IMR90	lung:	n/a	chr21:46729375-46729384
36	MXI1	chr21:46728224-46729351	HepG2	liver:	n/a	n/a
37	MAX	chr21:46727942-46729308	NB4	blood:	n/a	n/a
38	FOSL2	chr21:46728844-46729267	HepG2	liver:	n/a	n/a
39	CTCF	chr21:46728449-46729458	MCF-7	breast:	n/a	chr21:46728698-46728716
40	MAX	chr21:46727868-46729444	HepG2	liver:	n/a	chr21:46729375-46729384
41	CTCF	chr21:46728515-46729338	HepG2	liver:	n/a	chr21:46728698-46728716
42	POLR2A	chr21:46727931-46729331	HepG2	liver:	n/a	n/a
43	CEBPB	chr21:46728077-46729444	IMR90	lung:	n/a	chr21:46728564-46728577 chr21:46728564-46728575
44	JUND	chr21:46728659-46729725	SK-N-SH	brain:	n/a	chr21:46729375-46729384 chr21:46729374-46729385 chr21:46729374-46729386
45	CTCF	chr21:46728760-46728910	GM12878	blood:	n/a	n/a
46	CTCF	chr21:46728568-46728859	A549	lung:	n/a	chr21:46728698-46728716
47	RAD21	chr21:46728749-46729488	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr21:46728236-46729190	HepG2	liver:	n/a	n/a
49	MAX	chr21:46727848-46729389	HepG2	liver:	n/a	chr21:46729375-46729384
50	MAX	chr21:46728355-46729306	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:46727309..46730446-chr21:46829894..46833293,4	K562	blood:
2	chr21:46728651..46729247-chr21:46737855..46738742,2	MCF-7	breast:
3	chr21:46728395..46729331-chr21:46774690..46775582,2	MCF-7	breast:
4	chr21:46727455..46729208-chr21:46846804..46849388,2	MCF-7	breast:
5	chr21:46727532..46729794-chr21:46745790..46748227,2	MCF-7	breast:
6	chr21:46728354..46731184-chr21:46745278..46747549,4	MCF-7	breast:
7	chr21:46712235..46712971-chr21:46728288..46729510,5	MCF-7	breast:
8	chr21:46727073..46730583-chr21:46829051..46833062,4	K562	blood:
9	chr21:46728697..46729644-chr21:46859033..46859869,3	MCF-7	breast:

Variant related genes	Relation type
LINC00315	TF binding region
ENSG00000224574	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10098	0.84[EUR][1000 genomes]
rs10854469	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12069	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13049166	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1556327	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2244726	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2294172	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838872	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4818770	0.86[ASN][1000 genomes]
rs4819055	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6518224	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7277650	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs731551	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8127688	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs914221	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs914222	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9977947	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

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	nsv1059771	chr21:46561482-46830602	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv544481	chr21:46561482-46830602	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1063943	chr21:46571988-46819424	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv544482	chr21:46571988-46819424	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv1064859	chr21:46571988-46830602	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv544483	chr21:46571988-46830602	ZNF genes & repeats Enhancers Weak transcription Strong transcription 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 target site	51 gene(s)	inside rSNPs	diseases
8	nsv1061691	chr21:46572641-46831862	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv544484	chr21:46572641-46831862	Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	nsv587839	chr21:46580370-46837709	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats 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 target site	51 gene(s)	inside rSNPs	diseases
11	nsv587840	chr21:46580370-46839904	Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription 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	53 gene(s)	inside rSNPs	diseases
12	nsv916959	chr21:46585681-46831845	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking 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	51 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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
16	nsv1059805	chr21:46618210-46736943	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS 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	27 gene(s)	inside rSNPs	diseases
17	nsv913999	chr21:46636844-46765251	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats 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	43 gene(s)	inside rSNPs	diseases
18	nsv914000	chr21:46647078-46765251	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
19	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
20	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
21	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
22	nsv914004	chr21:46670874-46736694	Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS 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	25 gene(s)	inside rSNPs	diseases
23	nsv914005	chr21:46670874-46756700	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
24	nsv914006	chr21:46670874-46788299	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
25	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
26	nsv914007	chr21:46684517-46780249	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
27	nsv914008	chr21:46684517-46792424	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
28	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
29	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
30	nsv914010	chr21:46695039-46775018	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
31	nsv914011	chr21:46695039-46788299	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
32	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
33	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
34	nsv914013	chr21:46702506-46765251	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription 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	39 gene(s)	inside rSNPs	diseases
35	nsv914014	chr21:46702506-46780249	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
36	nsv914015	chr21:46702506-46790203	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription 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	40 gene(s)	inside rSNPs	diseases
37	nsv914016	chr21:46715545-46788299	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh 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	33 gene(s)	inside rSNPs	diseases
38	nsv914017	chr21:46715545-46837709	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
39	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
40	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
41	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
42	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
43	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
44	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
45	esv3374812	chr21:46727924-46732222	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8129985	C21orf86	N/A	lymphoblastoid	RTeQTL
rs8129985	LINC00315	cis	Artery Tibial	GTEx
rs8129985	LOC642852	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46713800-46738800	Weak transcription	Gastric	stomach
2	chr21:46715600-46730000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr21:46715800-46730000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:46722800-46730200	Enhancers	Fetal Muscle Leg	muscle
5	chr21:46723000-46730800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:46724200-46730200	Enhancers	Pancreas	Pancrea
7	chr21:46725000-46729600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr21:46725000-46730200	Enhancers	Fetal Lung	lung
9	chr21:46725600-46729000	Enhancers	Esophagus	oesophagus
10	chr21:46725800-46730800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr21:46725800-46730800	Enhancers	Ovary	ovary
12	chr21:46726000-46729200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr21:46726200-46729400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr21:46726200-46729600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr21:46726200-46730200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr21:46726200-46730200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr21:46726200-46730200	Enhancers	Brain Substantia Nigra	brain
18	chr21:46726200-46730200	Bivalent Enhancer	Placenta	Placenta
19	chr21:46726200-46731400	Enhancers	Fetal Intestine Small	intestine
20	chr21:46726400-46729200	Enhancers	Lung	lung
21	chr21:46726400-46730000	Enhancers	NHLF	lung
22	chr21:46726400-46730200	Enhancers	Liver	Liver
23	chr21:46726400-46730200	Enhancers	Left Ventricle	heart
24	chr21:46726400-46730200	Enhancers	Right Atrium	heart
25	chr21:46726400-46730400	Enhancers	Right Ventricle	heart
26	chr21:46726600-46729000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr21:46726600-46729800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr21:46726600-46730000	Enhancers	NHDF-Ad	bronchial
29	chr21:46726800-46730800	Enhancers	HSMMtube	muscle
30	chr21:46727000-46730800	Enhancers	Brain Anterior Caudate	brain
31	chr21:46727200-46729000	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr21:46727200-46729000	Flanking Active TSS	HSMM	muscle
33	chr21:46727200-46729600	Enhancers	HMEC	breast
34	chr21:46727200-46730200	Enhancers	Brain Hippocampus Middle	brain
35	chr21:46727200-46730200	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr21:46727200-46730800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr21:46727200-46730800	Enhancers	Spleen	Spleen
38	chr21:46727400-46729000	Enhancers	K562	blood
39	chr21:46727400-46729200	Enhancers	Brain Angular Gyrus	brain
40	chr21:46727400-46729600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr21:46727400-46729800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr21:46727400-46730200	Enhancers	Brain Cingulate Gyrus	brain
43	chr21:46727400-46730200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr21:46727600-46729000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr21:46727600-46729200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr21:46727600-46729200	Enhancers	Colonic Mucosa	Colon
47	chr21:46727600-46729600	Enhancers	Colon Smooth Muscle	Colon
48	chr21:46727600-46737200	Weak transcription	Aorta	Aorta
49	chr21:46727800-46730200	Enhancers	Rectal Smooth Muscle	rectum
50	chr21:46727800-46730800	Enhancers	Stomach Smooth Muscle	stomach

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