Variant report

Variant	rs1007893
Chromosome Location	chr21:47877594-47877595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT5A	chr21:47877513-47878102	GM12878	blood:	n/a	n/a
2	POLR2A	chr21:47875376-47879258	SK-N-MC	brain:	n/a	n/a
3	SIN3AK20	chr21:47877440-47879283	MCF-7	breast:	n/a	n/a
4	TBP	chr21:47877584-47878763	Hela-S3	cervix:	n/a	n/a
5	WRNIP1	chr21:47877465-47878520	GM12878	blood:	n/a	n/a
6	IRF1	chr21:47877535-47879094	K562	blood:	n/a	chr21:47878715-47878729
7	POLR2A	chr21:47877580-47879196	K562	blood:	n/a	n/a
8	GTF2F1	chr21:47877519-47878763	Hela-S3	cervix:	n/a	n/a
9	ESRRA	chr21:47877446-47879271	GM12878	blood:	n/a	n/a
10	MAX	chr21:47877501-47878957	H1-hESC	embryonic stem cell:	n/a	n/a
11	MXI1	chr21:47877463-47879400	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr21:47877585-47877618	MCF-7	breast:	n/a	n/a
13	POLR2A	chr21:47876732-47879341	HepG2	liver:	n/a	n/a
14	TEAD4	chr21:47877422-47878788	K562	blood:	n/a	n/a
15	POLR2A	chr21:47877359-47879140	MCF10A-Er-Src	breast:	n/a	n/a
16	MAX	chr21:47877588-47879255	MCF-7	breast:	n/a	n/a
17	BHLHE40	chr21:47877555-47879097	K562	blood:	n/a	chr21:47878832-47878848
18	POLR2A	chr21:47877576-47879244	Hela-S3	cervix:	n/a	n/a
19	IRF1	chr21:47877453-47879065	K562	blood:	n/a	chr21:47878715-47878729
20	POLR2A	chr21:47877367-47879008	K562	blood:	n/a	n/a
21	HCFC1	chr21:47877493-47879289	Hela-S3	cervix:	n/a	n/a
22	STAT3	chr21:47877491-47877683	MCF10A-Er-Src	breast:	n/a	n/a
23	MYC	chr21:47877549-47879120	NB4	blood:	n/a	n/a
24	POLR2A	chr21:47877360-47879078	K562	blood:	n/a	n/a
25	RFX5	chr21:47877319-47879399	SK-N-SH	brain:	n/a	chr21:47878712-47878721 chr21:47878708-47878723
26	MXI1	chr21:47877351-47879319	IMR90	lung:	n/a	n/a
27	POLR2A	chr21:47877507-47879158	MCF10A-Er-Src	breast:	n/a	n/a
28	CUX1	chr21:47877519-47878665	K562	blood:	n/a	n/a
29	POLR2A	chr21:47877466-47879155	GM12878	blood:	n/a	n/a
30	RFX5	chr21:47877569-47879119	IMR90	lung:	n/a	chr21:47878712-47878721 chr21:47878708-47878723
31	POLR2A	chr21:47877392-47879192	PFSK-1	brain:	n/a	n/a
32	POLR2A	chr21:47877325-47879136	GM12892	blood:	n/a	n/a
33	UBTF	chr21:47877401-47879233	K562	blood:	n/a	n/a
34	POLR2A	chr21:47877532-47879146	NB4	blood:	n/a	n/a
35	HEY1	chr21:47876881-47879183	K562	blood:	n/a	chr21:47878631-47878646 chr21:47878836-47878851 chr21:47878839-47878854 chr21:47878787-47878802 chr21:47878834-47878849
36	POLR2A	chr21:47877549-47879151	GM12891	blood:	n/a	n/a
37	JUN	chr21:47877391-47879234	K562	blood:	n/a	chr21:47877798-47877806
38	POLR2A	chr21:47877551-47879127	K562	blood:	n/a	n/a
39	POLR2A	chr21:47877463-47879398	PFSK-1	brain:	n/a	n/a
40	POLR2A	chr21:47877421-47879144	ECC-1	luminal epithelium:	n/a	n/a
41	CBX3	chr21:47877583-47878776	K562	blood:	n/a	n/a
42	POLR2A	chr21:47877536-47879190	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr21:47877454-47878725	GM12878	blood:	n/a	n/a
44	MAFK	chr21:47877564-47878712	K562	blood:	n/a	n/a
45	KAP1	chr21:47877449-47878715	HEK293	kidney:	n/a	n/a
46	EP300	chr21:47877478-47879270	SK-N-SH	brain:	n/a	chr21:47878839-47878855
47	POLR2A	chr21:47877510-47879140	PBDE	blood:	n/a	n/a
48	MTA3	chr21:47877443-47878698	GM12878	blood:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47703795..47706466-chr21:47875167..47877957,2	K562	blood:
2	chr12:131354963..131357052-chr21:47877040..47878666,2	MCF-7	breast:
3	chr21:47743254..47746166-chr21:47876901..47880445,4	MCF-7	breast:
4	chr21:47876838..47878694-chr21:47950726..47952236,2	K562	blood:
5	chr17:57921537..57925513-chr21:47876812..47880311,4	MCF-7	breast:
6	chr21:47798424..47800527-chr21:47877024..47878528,2	MCF-7	breast:
7	chr21:47705757..47707649-chr21:47877566..47879114,2	MCF-7	breast:
8	chr21:47863005..47865990-chr21:47875934..47878581,2	MCF-7	breast:
9	chr21:47875258..47880014-chr21:48054452..48058643,10	K562	blood:
10	chr21:47840925..47844156-chr21:47876600..47878720,3	MCF-7	breast:
11	chr21:47857857..47859725-chr21:47876652..47878543,2	MCF-7	breast:
12	chr21:47743042..47745765-chr21:47875975..47879914,6	MCF-7	breast:
13	chr21:47876681..47878399-chr21:47975254..47977568,2	MCF-7	breast:
14	chr21:47742824..47746367-chr21:47874951..47878920,7	K562	blood:
15	chr21:47647264..47651365-chr21:47875652..47880068,5	K562	blood:
16	chr21:47862357..47865195-chr21:47870982..47877612,5	K562	blood:
17	chr17:58154842..58157116-chr21:47876482..47878342,2	MCF-7	breast:
18	chr19:44116910..44119168-chr21:47876840..47878656,2	MCF-7	breast:
19	chr21:47811625..47813583-chr21:47876546..47878420,2	K562	blood:
20	chr21:47647621..47651234-chr21:47875652..47881416,7	K562	blood:
21	chr21:47877118..47880921-chr21:48053345..48058142,9	K562	blood:
22	chr21:47876440..47878945-chr21:47970776..47973767,2	MCF-7	breast:
23	chr21:47743331..47747569-chr21:47874488..47878501,6	K562	blood:
24	chr21:47843264..47847636-chr21:47874814..47878644,6	K562	blood:
25	chr21:47740603..47742820-chr21:47877122..47879143,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C21orf58-1	chr21:47871407-47878519	NONHSAT083070

No data

Variant related genes	Relation type
DIP2A-IT1	TF binding region
DIP2A	TF binding region
ENSG00000160305	Chromatin interaction
ENSG00000160298	Chromatin interaction
ENSG00000160294	Chromatin interaction
ENSG00000267416	Chromatin interaction
ENSG00000160285	Chromatin interaction
ENSG00000225043	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000132341	Chromatin interaction
ENSG00000215424	Chromatin interaction
ENSG00000160310	Chromatin interaction
ENSG00000068097	Chromatin interaction
ENSG00000160299	Chromatin interaction
ENSG00000182362	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1029231	0.91[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs10775681	0.83[ASN][1000 genomes]
rs11089070	0.92[ASN][1000 genomes]
rs11700510	0.86[ASN][1000 genomes]
rs11700596	0.91[ASN][1000 genomes]
rs11701121	0.84[ASN][1000 genomes]
rs11701310	0.82[ASN][1000 genomes]
rs11701569	0.90[ASN][1000 genomes]
rs11701571	0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs11701815	0.89[ASN][1000 genomes]
rs11701902	0.89[ASN][1000 genomes]
rs11702190	0.86[ASN][1000 genomes]
rs11702278	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11702701	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11702704	0.91[ASN][1000 genomes]
rs11702718	0.94[ASN][1000 genomes]
rs11702822	0.87[ASN][1000 genomes]
rs12627084	0.89[ASN][1000 genomes]
rs1892691	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1892692	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2070432	0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs2070433	0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2070435	0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs2073379	0.88[CHD][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs2073380	0.86[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs2096507	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.90[ASN][1000 genomes]
rs2236616	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs2249057	0.87[CHB][hapmap]
rs2268524	0.89[ASN][1000 genomes]
rs2300561	0.91[ASN][1000 genomes]
rs2300562	0.95[ASN][1000 genomes]
rs2839217	0.87[CHB][hapmap]
rs2839250	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2839258	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2839269	0.91[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs2839277	0.93[ASN][1000 genomes]
rs2839278	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2839279	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2839281	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2839287	0.89[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap]
rs2839288	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2839290	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2839295	0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs2839302	0.82[ASN][1000 genomes]
rs2839304	0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2839306	0.83[CHD][hapmap];0.86[JPT][hapmap]
rs2839311	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2839312	0.90[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2839314	0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs2839327	0.84[CHD][hapmap];0.83[JPT][hapmap]
rs28613801	0.94[ASN][1000 genomes]
rs28702984	0.88[ASN][1000 genomes]
rs3788265	0.91[JPT][hapmap]
rs4276098	0.87[ASN][1000 genomes]
rs4347941	1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs55744579	0.88[ASN][1000 genomes]
rs56016846	0.90[ASN][1000 genomes]
rs56134005	0.85[ASN][1000 genomes]
rs56157650	0.83[ASN][1000 genomes]
rs60135034	0.95[ASN][1000 genomes]
rs60290737	0.84[ASN][1000 genomes]
rs60407402	0.95[ASN][1000 genomes]
rs6518299	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6518300	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs66799972	0.92[ASN][1000 genomes]
rs718496	0.91[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs721131	0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs725970	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs7277986	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7279002	0.87[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs7282515	0.89[ASN][1000 genomes]
rs73152849	0.88[ASN][1000 genomes]
rs8127582	0.89[ASN][1000 genomes]
rs8129305	0.89[ASN][1000 genomes]
rs8129793	0.81[ASN][1000 genomes]
rs8130209	0.85[ASN][1000 genomes]
rs8132725	0.80[ASN][1000 genomes]
rs9306156	0.82[ASN][1000 genomes]
rs9306157	0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs9637220	0.85[ASN][1000 genomes]
rs9637225	0.82[ASN][1000 genomes]
rs9647244	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9647245	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9976530	0.90[ASN][1000 genomes]
rs9979126	0.88[ASN][1000 genomes]
rs9980470	0.89[ASN][1000 genomes]
rs9981212	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9981387	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
2	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
3	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
4	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
5	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
6	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	n/a
7	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
8	nsv1059118	chr21:47398331-48090457	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
9	nsv544494	chr21:47398331-48090457	Strong transcription Weak transcription Bivalent Enhancer Enhancers 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 target site	95 gene(s)	inside rSNPs	n/a
10	nsv934264	chr21:47401083-48090317	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
11	nsv519904	chr21:47583506-47881309	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
12	nsv948761	chr21:47587940-48069930	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	n/a
13	nsv1055239	chr21:47591378-48090317	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
14	nsv544495	chr21:47591378-48090317	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
15	nsv949706	chr21:47625544-48069930	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
16	nsv529496	chr21:47634193-48090317	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
17	nsv914136	chr21:47681041-47900994	Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	n/a
18	nsv933061	chr21:47746204-48031515	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a
19	nsv1062858	chr21:47750884-48091343	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
20	nsv587995	chr21:47803949-47877594	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
21	nsv1056321	chr21:47835146-47973412	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
22	nsv917208	chr21:47836346-47988603	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
23	nsv1058397	chr21:47851176-48091343	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
24	nsv459312	chr21:47856106-47985655	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS 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	30 gene(s)	inside rSNPs	n/a
25	nsv587998	chr21:47856106-47985655	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
26	nsv1065502	chr21:47865215-48091343	Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
27	nsv1056152	chr21:47875370-47979259	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
28	nsv1061442	chr21:47875370-48091343	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs1007893	KRTAP10-7	cis	parietal	SCAN
rs1007893	PCNT	cis	parietal	SCAN
rs1007893	S100B	cis	cerebellum	SCAN
rs1007893	MCM3AP	cis	cerebellum	SCAN
rs1007893	MCM3AP	Cis_1M	lymphoblastoid	RTeQTL
rs1007893	C21orf57	cis	cerebellum	SCAN
rs1007893	MCM3AP	cis	lymphoblastoid	seeQTL
rs1007893	S100B	cis	parietal	SCAN
rs1007893	PTTG1IP	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47864600-47877800	Weak transcription	Aorta	Aorta
2	chr21:47874000-47877600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr21:47874600-47877600	Enhancers	Liver	Liver
4	chr21:47875600-47877600	Enhancers	Esophagus	oesophagus
5	chr21:47875600-47877600	Enhancers	Pancreas	Pancrea
6	chr21:47875600-47877800	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr21:47875600-47877800	Enhancers	Spleen	Spleen
8	chr21:47875800-47878000	Flanking Active TSS	Fetal Heart	heart
9	chr21:47875800-47878600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr21:47876000-47877600	Enhancers	HUVEC	blood vessel
11	chr21:47876000-47877800	Enhancers	Small Intestine	intestine
12	chr21:47876200-47877600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr21:47876200-47877600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr21:47876200-47877800	Enhancers	Lung	lung
15	chr21:47876400-47877600	Weak transcription	HSMMtube	muscle
16	chr21:47876400-47877800	Flanking Active TSS	GM12878-XiMat	blood
17	chr21:47876600-47877600	Enhancers	Primary B cells from cord blood	blood
18	chr21:47876600-47877600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr21:47876600-47877600	Weak transcription	Gastric	stomach
20	chr21:47876800-47877600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr21:47876800-47877600	Enhancers	Primary T cells fromperipheralblood	blood
22	chr21:47876800-47877600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr21:47876800-47877600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr21:47876800-47877600	Enhancers	Ovary	ovary
25	chr21:47876800-47878000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr21:47876800-47878000	Flanking Active TSS	Dnd41	blood
27	chr21:47877000-47877600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr21:47877000-47877600	Enhancers	Primary B cells from peripheral blood	blood
29	chr21:47877000-47877600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr21:47877000-47877600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr21:47877000-47877600	Enhancers	Placenta	Placenta
32	chr21:47877000-47878000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr21:47877000-47878000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr21:47877000-47878400	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr21:47877000-47878400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr21:47877200-47877600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr21:47877200-47877600	Enhancers	Primary hematopoietic stem cells	blood
38	chr21:47877200-47877600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr21:47877200-47877600	Flanking Active TSS	Left Ventricle	heart
40	chr21:47877200-47877600	Active TSS	Right Ventricle	heart
41	chr21:47877200-47877600	Flanking Active TSS	HepG2	liver
42	chr21:47877200-47877800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr21:47877200-47877800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr21:47877200-47878000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr21:47877200-47878000	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr21:47877200-47878000	Flanking Active TSS	Fetal Brain Female	brain
47	chr21:47877200-47878000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr21:47877200-47878000	Flanking Active TSS	HMEC	breast
49	chr21:47877200-47878000	Transcr. at gene 5' and 3'	K562	blood
50	chr21:47877200-47878200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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