Variant report

Variant	rs9983675
Chromosome Location	chr21:46872884-46872885
allele	A/G
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	chr21:46872345-46873195	HepG2	liver:	n/a	n/a
2	POLR2A	chr21:46872605-46873331	HUVEC	blood vessel:	n/a	n/a
3	MAX	chr21:46872219-46873378	K562	blood:	n/a	chr21:46872822-46872832 chr21:46872793-46872803
4	POLR2A	chr21:46872103-46873361	H1-hESC	embryonic stem cell:	n/a	n/a
5	USF2	chr21:46872801-46873175	HepG2	liver:	n/a	n/a
6	POLR2A	chr21:46872858-46872939	HUVEC	blood vessel:	n/a	n/a
7	MAX	chr21:46872311-46873352	H1-hESC	embryonic stem cell:	n/a	chr21:46872822-46872832 chr21:46872793-46872803
8	MAX	chr21:46872335-46873354	NB4	blood:	n/a	chr21:46872822-46872832 chr21:46872793-46872803
9	NFATC1	chr21:46872817-46873466	GM12878	blood:	n/a	n/a
10	MAX	chr21:46872342-46873385	HUVEC	blood vessel:	n/a	chr21:46872822-46872832 chr21:46872793-46872803
11	BCL3	chr21:46872766-46873415	GM12878	blood:	n/a	n/a
12	BCL3	chr21:46872696-46873552	GM12878	blood:	n/a	n/a
13	MYC	chr21:46872561-46872959	HUVEC	blood vessel:	n/a	chr21:46872822-46872832 chr21:46872793-46872803
14	ZNF263	chr21:46872416-46873435	HEK293-T-REx	kidney:	n/a	n/a
15	POLR2A	chr21:46872199-46874078	HepG2	liver:	n/a	n/a
16	POLR2A	chr21:46872060-46873439	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr21:46872189-46872912	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr21:46872065-46873642	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:46743593..46745203-chr21:46872464..46875205,2	MCF-7	breast:
2	chr21:46823689..46827001-chr21:46871423..46873969,3	MCF-7	breast:
3	chr21:46871841..46874571-chr21:47238507..47240724,2	MCF-7	breast:
4	chr21:46870691..46873268-chr21:46930892..46933209,2	MCF-7	breast:
5	chr21:46746231..46748655-chr21:46872745..46875020,2	MCF-7	breast:
6	chr21:46871530..46873136-chr21:46929726..46931688,2	MCF-7	breast:
7	chr21:46871175..46873535-chr21:46882895..46884844,2	K562	blood:

Variant related genes	Relation type
COL18A1	TF binding region
ENSG00000182871	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11089003	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11909509	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11909692	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2236452	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2236461	0.97[EUR][1000 genomes]
rs2236464	0.90[EUR][1000 genomes]
rs2236473	0.85[EUR][1000 genomes]
rs2838932	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2838935	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2838936	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6518245	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs731537	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8131819	0.84[AMR][1000 genomes]
rs8133622	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9974141	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9975786	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9976649	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9976784	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9976834	0.82[EUR][1000 genomes]
rs9977268	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9980525	0.81[AMR][1000 genomes]
rs9980531	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9981397	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9981635	0.87[ASN][1000 genomes]
rs9983783	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:69 , 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	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	nsv587846	chr21:46846944-46899119	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
46	esv1841607	chr21:46846944-46970385	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
47	nsv1062107	chr21:46847759-46976682	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
48	esv1822272	chr21:46848326-47038855	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription 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	31 gene(s)	inside rSNPs	diseases
49	nsv587847	chr21:46848589-46903021	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
50	nsv914049	chr21:46848589-46982335	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9983675	COL18A1	cis	Whole Blood	GTEx

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46855000-46873800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr21:46859400-46873400	Weak transcription	Gastric	stomach
3	chr21:46859800-46874200	Weak transcription	Ovary	ovary
4	chr21:46859800-46880000	Weak transcription	HUVEC	blood vessel
5	chr21:46860000-46888200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr21:46862000-46887600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr21:46865800-46873200	Weak transcription	Adipose Nuclei	Adipose
8	chr21:46866600-46880000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr21:46867000-46875200	Weak transcription	Aorta	Aorta
10	chr21:46868400-46874000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr21:46868600-46873400	Weak transcription	Lung	lung
12	chr21:46868600-46874200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr21:46868600-46875400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr21:46868600-46881600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr21:46869200-46874200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr21:46869600-46873400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr21:46869800-46874400	Enhancers	Liver	Liver
18	chr21:46870000-46875400	Weak transcription	Fetal Intestine Small	intestine
19	chr21:46870800-46873400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr21:46870800-46873400	Weak transcription	Esophagus	oesophagus
21	chr21:46871000-46873400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr21:46871000-46873600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr21:46871200-46873000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr21:46871200-46875400	Enhancers	Spleen	Spleen
25	chr21:46871600-46874600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr21:46871800-46873400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr21:46871800-46873600	Weak transcription	Fetal Thymus	thymus
28	chr21:46872000-46873400	Weak transcription	Fetal Muscle Leg	muscle
29	chr21:46872200-46873000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
30	chr21:46872200-46873000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
31	chr21:46872200-46873200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
32	chr21:46872200-46873200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr21:46872200-46873200	Genic enhancers	Fetal Heart	heart
34	chr21:46872200-46873400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr21:46872200-46873400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr21:46872200-46873400	ZNF genes & repeats	Fetal Kidney	kidney
37	chr21:46872200-46873400	ZNF genes & repeats	K562	blood
38	chr21:46872200-46875600	Genic enhancers	HepG2	liver
39	chr21:46872400-46873000	ZNF genes & repeats	A549	lung
40	chr21:46872400-46873200	ZNF genes & repeats	Fetal Brain Male	brain
41	chr21:46872400-46873400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr21:46872400-46874200	Weak transcription	Right Ventricle	heart
43	chr21:46872600-46873200	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr21:46872600-46873200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr21:46872600-46874000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr21:46872600-46875000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr21:46872800-46873200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr21:46872800-46873200	Weak transcription	HSMM	muscle
49	chr21:46872800-46873600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr21:46872800-46874000	Weak transcription	Pancreas	Pancrea

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