Variant report

Variant	rs11088985
Chromosome Location	chr21:46712804-46712805
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	POLR2A	chr21:46712296-46712819	PANC-1	pancreas:	n/a	n/a
2	GABPA	chr21:46712274-46712808	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr21:46712199-46713021	HCT-116	colon:	n/a	chr21:46712550-46712569 chr21:46712553-46712566 chr21:46712257-46712276 chr21:46712262-46712272 chr21:46712262-46712274 chr21:46712260-46712273 chr21:46712554-46712563
4	TCF12	chr21:46712254-46712836	ECC-1	luminal epithelium:	n/a	n/a
5	ZMIZ1	chr21:46712428-46712869	K562	blood:	n/a	n/a
6	CTCF	chr21:46712333-46712806	K562	blood:	n/a	chr21:46712746-46712759 chr21:46712551-46712572 chr21:46712549-46712567 chr21:46712552-46712565
7	TCF12	chr21:46712233-46713000	A549	lung:	n/a	n/a
8	MAX	chr21:46712365-46712865	ECC-1	luminal epithelium:	n/a	n/a
9	ELF1	chr21:46711840-46712854	MCF-7	breast:	n/a	chr21:46712446-46712459
10	RAD21	chr21:46712272-46713007	IMR90	lung:	n/a	chr21:46712550-46712569 chr21:46712553-46712566 chr21:46712554-46712563
11	CTCF	chr21:46712212-46712970	K562	blood:	n/a	chr21:46712746-46712759 chr21:46712551-46712572 chr21:46712549-46712567 chr21:46712917-46712926 chr21:46712552-46712565 chr21:46712259-46712272
12	MAX	chr21:46712241-46712881	A549	lung:	n/a	chr21:46712242-46712251 chr21:46712241-46712251 chr21:46712243-46712250 chr21:46712241-46712252 chr21:46712242-46712251
13	MAX	chr21:46712149-46712901	A549	lung:	n/a	chr21:46712242-46712251 chr21:46712241-46712251 chr21:46712243-46712250 chr21:46712241-46712252 chr21:46712242-46712251
14	POLR2A	chr21:46712266-46713287	MCF-7	breast:	n/a	n/a
15	CTCF	chr21:46712317-46712809	A549	lung:	n/a	chr21:46712746-46712759 chr21:46712551-46712572 chr21:46712549-46712567 chr21:46712552-46712565
16	POLR2A	chr21:46711008-46713419	HepG2	liver:	n/a	n/a
17	MAZ	chr21:46711859-46716395	IMR90	lung:	n/a	chr21:46712242-46712251 chr21:46713452-46713461 chr21:46713786-46713795 chr21:46712241-46712251 chr21:46712243-46712250 chr21:46713453-46713460 chr21:46713784-46713792 chr21:46712241-46712252 chr21:46712242-46712251
18	SMC3	chr21:46712299-46713123	Hela-S3	cervix:	n/a	chr21:46712551-46712565
19	POLR2A	chr21:46711829-46715303	MCF10A-Er-Src	breast:	n/a	n/a
20	RAD21	chr21:46712219-46712872	HepG2	liver:	n/a	chr21:46712550-46712569 chr21:46712553-46712566 chr21:46712257-46712276 chr21:46712262-46712272 chr21:46712262-46712274 chr21:46712260-46712273 chr21:46712554-46712563
21	POLR2A	chr21:46712247-46713513	K562	blood:	n/a	n/a
22	MAX	chr21:46712343-46712869	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr21:46707503-46717614	IMR90	lung:	n/a	n/a
24	JUN	chr21:46712130-46712885	K562	blood:	n/a	n/a
25	POLR2A	chr21:46711624-46712839	SK-N-MC	brain:	n/a	n/a
26	RAD21	chr21:46712213-46712889	MCF-7	breast:	n/a	chr21:46712550-46712569 chr21:46712553-46712566 chr21:46712257-46712276 chr21:46712262-46712272 chr21:46712262-46712274 chr21:46712260-46712273 chr21:46712554-46712563
27	MAZ	chr21:46712342-46712813	GM12878	blood:	n/a	n/a
28	CTCF	chr21:46711447-46713112	SK-N-SH	brain:	n/a	chr21:46712746-46712759 chr21:46712551-46712572 chr21:46712549-46712567 chr21:46712917-46712926 chr21:46712552-46712565 chr21:46712259-46712272
29	POLR2A	chr21:46711708-46713222	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr21:46712800-46712950	NHLF	lung:	n/a	chr21:46712917-46712926
31	RAD21	chr21:46712244-46712861	SK-N-SH_RA	brain:	n/a	chr21:46712550-46712569 chr21:46712553-46712566 chr21:46712257-46712276 chr21:46712262-46712272 chr21:46712262-46712274 chr21:46712260-46712273 chr21:46712554-46712563
32	MYBL2	chr21:46712233-46712813	HepG2	liver:	n/a	n/a
33	CTCF	chr21:46712340-46712929	K562	blood:	n/a	chr21:46712746-46712759 chr21:46712551-46712572 chr21:46712549-46712567 chr21:46712917-46712926 chr21:46712552-46712565
34	POLR2A	chr21:46711955-46712966	ECC-1	luminal epithelium:	n/a	n/a
35	NFIC	chr21:46712310-46712833	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr21:46712247-46713646	ProgFib	skin:	n/a	n/a
37	POLR2A	chr21:46712283-46712831	HepG2	liver:	n/a	n/a
38	CTCF	chr21:46712263-46712880	MCF-7	breast:	n/a	chr21:46712746-46712759 chr21:46712551-46712572 chr21:46712549-46712567 chr21:46712552-46712565
39	HCFC1	chr21:46712189-46712864	Hela-S3	cervix:	n/a	n/a
40	MAX	chr21:46712008-46712857	H1-hESC	embryonic stem cell:	n/a	chr21:46712242-46712251 chr21:46712241-46712251 chr21:46712243-46712250 chr21:46712241-46712252 chr21:46712242-46712251
41	RAD21	chr21:46712183-46712986	H1-hESC	embryonic stem cell:	n/a	chr21:46712550-46712569 chr21:46712553-46712566 chr21:46712257-46712276 chr21:46712262-46712272 chr21:46712262-46712274 chr21:46712260-46712273 chr21:46712554-46712563
42	POLR2A	chr21:46712555-46713070	Raji	blood:	n/a	n/a
43	RAD21	chr21:46712337-46712907	H1-hESC	embryonic stem cell:	n/a	chr21:46712550-46712569 chr21:46712553-46712566 chr21:46712554-46712563
44	SMC3	chr21:46712319-46712816	GM12878	blood:	n/a	chr21:46712551-46712565
45	MAX	chr21:46712001-46712818	H1-hESC	embryonic stem cell:	n/a	chr21:46712242-46712251 chr21:46712241-46712251 chr21:46712243-46712250 chr21:46712241-46712252 chr21:46712242-46712251
46	MYC	chr21:46712244-46712808	K562	blood:	n/a	n/a
47	RAD21	chr21:46712277-46712867	A549	lung:	n/a	chr21:46712550-46712569 chr21:46712553-46712566 chr21:46712554-46712563
48	CTCF	chr21:46712206-46712992	A549	lung:	n/a	chr21:46712746-46712759 chr21:46712551-46712572 chr21:46712549-46712567 chr21:46712917-46712926 chr21:46712552-46712565 chr21:46712259-46712272
49	POLR2A	chr21:46712497-46713311	MCF-7	breast:	n/a	n/a
50	GABPA	chr21:46712235-46713028	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:46710906..46714348-chr21:46821217..46828800,8	MCF-7	breast:
2	chr21:46711273..46715306-chr21:46820522..46825546,4	MCF-7	breast:
3	chr21:46710943..46713565-chr21:46960523..46963682,3	K562	blood:
4	chr21:46711169..46713506-chr21:46798030..46799980,2	MCF-7	breast:
5	chr21:46571956..46572893-chr21:46712105..46713054,2	K562	blood:
6	chr21:46712083..46713107-chr21:47240205..47240763,3	K562	blood:
7	chr21:46710943..46713565-chr21:46960523..46962462,2	K562	blood:
8	chr21:46711457..46713560-chr21:46924492..46926024,2	K562	blood:
9	chr21:46712479..46713021-chr21:46974703..46975502,2	MCF-7	breast:
10	chr21:46706857..46709577-chr21:46709955..46714044,8	K562	blood:
11	chr21:46712235..46712971-chr21:46728288..46729510,5	MCF-7	breast:
12	chr21:46712087..46713036-chr21:46858995..46859999,7	MCF-7	breast:
13	chr21:46711987..46713060-chr21:46859256..46859950,5	MCF-7	breast:
14	chr21:46707421..46709618-chr21:46710328..46714044,7	K562	blood:
15	chr21:46712582..46714711-chr21:46724300..46726891,3	K562	blood:
16	chr21:46712164..46712808-chr21:46897747..46898262,2	MCF-7	breast:
17	chr21:46709020..46713873-chr21:46844930..46849148,6	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADARB1-3	chr21:46710386-46713437	XLOC_013981
2	lnc-ADARB1-3	chr21:46710386-46713437	XLOC_013981
3	lnc-ADARB1-3	chr21:46712515-46713437	XLOC_013981
4	lnc-ADARB1-3	chr21:46710386-46713437	XLOC_013981
5	lnc-ADARB1-3	chr21:46710386-46717269	NONHSAT082933
6	lnc-ADARB1-3	chr21:46710386-46717268	XLOC_013981

Variant related genes	Relation type
LINC00205	TF binding region
POFUT2	TF binding region
ENSG00000182871	Chromatin interaction
ENSG00000215447	Chromatin interaction
ENSG00000173638	Chromatin interaction
ENSG00000228355	Chromatin interaction
ENSG00000184274	Chromatin interaction
ENSG00000186866	Chromatin interaction
ENSG00000183535	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1056099	0.83[ASN][1000 genomes]
rs1056100	0.83[ASN][1000 genomes]
rs1056101	0.82[ASN][1000 genomes]
rs11909411	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13052344	0.81[ASN][1000 genomes]
rs2236443	0.83[ASN][1000 genomes]
rs2236444	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2236445	0.83[ASN][1000 genomes]
rs2236446	0.83[ASN][1000 genomes]
rs2236450	0.83[ASN][1000 genomes]
rs2246697	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2255766	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2255774	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2838852	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2838854	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2838855	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2838857	0.84[ASN][1000 genomes]
rs2838858	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2838864	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838865	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838866	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838867	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838868	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28501512	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28576202	0.80[EUR][1000 genomes]
rs28622522	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28623526	0.90[ASN][1000 genomes]
rs28676615	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34956478	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35776291	0.89[ASN][1000 genomes]
rs3673	0.82[ASN][1000 genomes]
rs4819051	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4819053	0.93[ASN][1000 genomes]
rs7275382	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7276591	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7276828	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7279136	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7281263	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8127834	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8134011	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8134084	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs875621	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs914214	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs914215	0.82[ASN][1000 genomes]
rs914218	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9979545	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:36 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11088985	C21orf86	N/A	lymphoblastoid	RTeQTL
rs11088985	LINC00316	cis	Thyroid	GTEx
rs11088985	LOC642852	Cis_1M	lymphoblastoid	RTeQTL
rs11088985	C21orf86	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46708400-46714800	Weak transcription	Fetal Kidney	kidney
2	chr21:46708600-46713600	Weak transcription	Aorta	Aorta
3	chr21:46708800-46713000	Weak transcription	Psoas Muscle	Psoas
4	chr21:46708800-46713200	Weak transcription	Hela-S3	cervix
5	chr21:46708800-46715000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr21:46709000-46713400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr21:46709000-46714600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr21:46709000-46715200	Weak transcription	Small Intestine	intestine
9	chr21:46709200-46714200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr21:46710200-46716000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr21:46710600-46714000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr21:46710600-46714200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr21:46710600-46714200	Enhancers	HSMMtube	muscle
14	chr21:46710600-46716800	Enhancers	Fetal Heart	heart
15	chr21:46710800-46713400	Enhancers	A549	lung
16	chr21:46710800-46714000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr21:46710800-46714200	Enhancers	NH-A	brain
18	chr21:46710800-46714400	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr21:46710800-46715800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr21:46710800-46715800	Enhancers	Pancreas	Pancrea
21	chr21:46710800-46715800	Enhancers	Spleen	Spleen
22	chr21:46711000-46713000	Enhancers	K562	blood
23	chr21:46711200-46713600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:46711400-46713800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr21:46711400-46713800	Enhancers	HSMM	muscle
26	chr21:46711400-46714000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr21:46711400-46719200	Weak transcription	NHEK	skin
28	chr21:46711600-46716800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr21:46711800-46713000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr21:46711800-46713200	Enhancers	Stomach Mucosa	stomach
31	chr21:46711800-46714000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr21:46711800-46714000	Enhancers	Adipose Nuclei	Adipose
33	chr21:46711800-46715600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr21:46712000-46713000	Enhancers	Fetal Intestine Large	intestine
35	chr21:46712000-46713400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr21:46712000-46713400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr21:46712000-46713400	Enhancers	Liver	Liver
38	chr21:46712000-46713600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr21:46712000-46713800	Genic enhancers	Fetal Intestine Small	intestine
40	chr21:46712000-46714200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr21:46712000-46714600	Enhancers	Fetal Lung	lung
42	chr21:46712000-46714800	Enhancers	Rectal Smooth Muscle	rectum
43	chr21:46712000-46715000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr21:46712000-46715200	Enhancers	Primary hematopoietic stem cells	blood
45	chr21:46712000-46715400	Enhancers	Placenta Amnion	Placenta Amnion
46	chr21:46712000-46715600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr21:46712000-46716000	Enhancers	HUVEC	blood vessel
48	chr21:46712000-46716200	Enhancers	Ovary	ovary
49	chr21:46712000-46716400	Enhancers	Fetal Muscle Leg	muscle
50	chr21:46712000-46716800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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