Variant report

Variant	rs915804
Chromosome Location	chr21:47649802-47649803
allele	C/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	MXI1	chr21:47649694-47649883	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr21:47649070-47649820	GM12878	blood:	n/a	n/a
3	POLR2A	chr21:47649049-47649805	GM12892	blood:	n/a	n/a
4	POLR2A	chr21:47648213-47649915	GM12892	blood:	n/a	n/a
5	POLR2A	chr21:47649060-47649995	K562	blood:	n/a	n/a
6	MAFK	chr21:47649669-47650355	K562	blood:	n/a	n/a
7	POLR2A	chr21:47648302-47650042	MCF-7	breast:	n/a	n/a
8	E2F6	chr21:47647915-47649989	K562	blood:	n/a	chr21:47648778-47648787 chr21:47649412-47649421 chr21:47648831-47648840 chr21:47649121-47649135 chr21:47649339-47649351
9	ZC3H11A	chr21:47649628-47649955	K562	blood:	n/a	n/a
10	POLR2A	chr21:47648174-47649972	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr21:47648266-47649852	K562	blood:	n/a	n/a
12	POLR2A	chr21:47649066-47650405	SK-N-MC	brain:	n/a	n/a
13	ZBTB7A	chr21:47649065-47649954	K562	blood:	n/a	n/a
14	POLR2A	chr21:47649080-47651026	GM12891	blood:	n/a	n/a
15	ZBTB7A	chr21:47649088-47650076	ECC-1	luminal epithelium:	n/a	n/a
16	HEY1	chr21:47649075-47649933	K562	blood:	n/a	n/a
17	YY1	chr21:47649477-47650016	GM12878	blood:	n/a	chr21:47649763-47649775
18	ZMIZ1	chr21:47648142-47649979	K562	blood:	n/a	n/a
19	TBL1XR1	chr21:47649620-47649979	K562	blood:	n/a	n/a
20	POLR2A	chr21:47649784-47649817	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr21:47648096-47649880	H1-hESC	embryonic stem cell:	n/a	chr21:47648926-47648936 chr21:47648909-47648918 chr21:47649337-47649347 chr21:47649404-47649414
22	POLR2A	chr21:47649741-47649923	K562	blood:	n/a	n/a
23	POLR2A	chr21:47649075-47650117	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr21:47648318-47649895	NB4	blood:	n/a	n/a
25	CCNT2	chr21:47647768-47649855	K562	blood:	n/a	chr21:47649333-47649342 chr21:47649327-47649336
26	POLR2A	chr21:47649554-47649809	K562	blood:	n/a	n/a
27	MAX	chr21:47648118-47649836	NB4	blood:	n/a	chr21:47648926-47648936 chr21:47648909-47648918 chr21:47649337-47649347 chr21:47649404-47649414
28	POLR2A	chr21:47649081-47649809	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr21:47648265-47649927	GM19193	blood:	n/a	n/a
30	POLR2A	chr21:47647784-47650745	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr21:47649092-47650889	Hela-S3	cervix:	n/a	n/a
32	ELF1	chr21:47649068-47650030	GM12878	blood:	n/a	chr21:47649325-47649337 chr21:47649324-47649336
33	POLR2A	chr21:47649083-47650025	HL-60	blood:	n/a	n/a
34	YY1	chr21:47649577-47649894	SK-N-SH_RA	brain:	n/a	chr21:47649763-47649775
35	PML	chr21:47648932-47649803	GM12878	blood:	n/a	n/a
36	MAX	chr21:47649046-47650027	HepG2	liver:	n/a	chr21:47649337-47649347 chr21:47649404-47649414
37	E2F6	chr21:47648941-47649854	H1-hESC	embryonic stem cell:	n/a	chr21:47649412-47649421 chr21:47649121-47649135 chr21:47649339-47649351
38	MAX	chr21:47648118-47649954	K562	blood:	n/a	chr21:47648926-47648936 chr21:47648909-47648918 chr21:47649337-47649347 chr21:47649404-47649414
39	RCOR1	chr21:47649598-47649941	K562	blood:	n/a	n/a
40	POLR2A	chr21:47648337-47649825	K562	blood:	n/a	n/a
41	YY1	chr21:47649552-47649947	H1-hESC	embryonic stem cell:	n/a	chr21:47649763-47649775
42	MAX	chr21:47649054-47649812	MCF-7	breast:	n/a	chr21:47649337-47649347 chr21:47649404-47649414
43	ZBTB7A	chr21:47649052-47649959	ECC-1	luminal epithelium:	n/a	n/a
44	YY1	chr21:47649572-47649946	GM12892	blood:	n/a	chr21:47649763-47649775
45	TEAD4	chr21:47649015-47649986	K562	blood:	n/a	n/a
46	POLR2A	chr21:47649078-47649870	ECC-1	luminal epithelium:	n/a	n/a
47	CTCF	chr21:47649024-47649914	SK-N-SH	brain:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649396-47649406 chr21:47649124-47649142
48	MYC	chr21:47648127-47649838	K562	blood:	n/a	chr21:47648926-47648936 chr21:47648909-47648918 chr21:47649337-47649347 chr21:47649404-47649414
49	BHLHE40	chr21:47647771-47649855	K562	blood:	n/a	chr21:47649373-47649389
50	E2F6	chr21:47649050-47649962	H1-hESC	embryonic stem cell:	n/a	chr21:47649412-47649421 chr21:47649121-47649135 chr21:47649339-47649351

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47649776-47649826	IMR90	lung:	fetal
2	chr21:47649776-47649826	AG09319	gingival:	n/a
3	chr21:47649776-47649826	U87	brain:	n/a
4	chr21:47649776-47649826	ovcar-3	ovarian:	n/a
5	chr21:47649776-47649826	HIPEpiC	eye:	n/a
6	chr21:47649776-47649826	PFSK-1	brain:	n/a
7	chr21:47649776-47649826	GM06990	blood:	n/a
8	chr21:47649776-47649826	NHBE	bronchial:	n/a
9	chr21:47649776-47649826	HEEpiC	esophagus:	n/a
10	chr21:47649776-47649826	SKMC	muscle:	n/a
11	chr21:47649776-47649826	HepG2	liver:	n/a
12	chr21:47649776-47649826	HMEC	breast:	n/a
13	chr21:47649776-47649826	NH-A	brain:	n/a
14	chr21:47649776-47649826	NB4	blood:	n/a
15	chr21:47649776-47649826	HEK293	kidney:	embryo
16	chr21:47649776-47649826	HCF	heart:	n/a
17	chr21:47649776-47649826	GM12878	blood:	n/a
18	chr21:47649776-47649826	HNPCEpiC	eye:	n/a
19	chr21:47649776-47649826	Caco-2	colon:	n/a
20	chr21:47649776-47649826	PANC-1	pancreas:	n/a
21	chr21:47649776-47649826	ECC-1	luminal epithelium:	n/a
22	chr21:47649776-47649826	ProgFib	skin:	n/a
23	chr21:47649776-47649826	HRE	kidney:	n/a
24	chr21:47649776-47649826	MCF10A-Er-Src	breast:	n/a
25	chr21:47649776-47649826	AG04450	lung:	fetal
26	chr21:47649776-47649826	HAEpiC	amniotic membrane:	n/a
27	chr21:47649776-47649826	SK-N-SH_RA	brain:	n/a
28	chr21:47649776-47649826	K562	blood:	n/a
29	chr21:47649776-47649826	Jurkat	blood:	n/a
30	chr21:47649776-47649826	H1-hESC	embryonic stem cell:	embryo
31	chr21:47649776-47649826	BE2_C	brain:	n/a
32	chr21:47649776-47649826	LNCaP	prostate:	n/a
33	chr21:47649776-47649826	HL-60	blood:	n/a
34	chr21:47649776-47649826	HCPEpiC	choroid plexus:	n/a
35	chr21:47649776-47649826	CMK	blood:	n/a
36	chr21:47649776-47649826	AoSMC	blood vessel:	n/a
37	chr21:47649776-47649826	HRPEpiC	eye:	n/a
38	chr21:47649776-47649826	NHDF-neo	bronchial:	n/a
39	chr21:47649776-47649826	HUVEC	blood vessel:	n/a
40	chr21:47649776-47649826	HCT-116	colon:	n/a
41	chr21:47649776-47649826	GM19239	blood:	n/a
42	chr21:47649776-47649826	AG09309	skin:	n/a
43	chr21:47649776-47649826	Hepatocyte	liver:	n/a
44	chr21:47649776-47649826	Hela-S3	cervix:	n/a
45	chr21:47649776-47649826	HRCEpiC	kidney:	n/a
46	chr21:47649776-47649826	GM12891	blood:	n/a
47	chr21:47649776-47649826	MCF-7	breast:	n/a
48	chr21:47649776-47649826	A549	lung:	n/a
49	chr21:47649776-47649826	SK-N-MC	brain:	n/a
50	chr21:47649776-47649826	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:47637510..47639750-chr21:47649696..47652340,2	K562	blood:
2	chr21:47633762..47640190-chr21:47646866..47650293,7	MCF-7	breast:
3	chr21:47645527..47650637-chr21:47703398..47707562,6	MCF-7	breast:
4	chr21:47639961..47644801-chr21:47645631..47650469,7	K562	blood:
5	chr21:47646929..47655402-chr21:47657205..47667464,13	MCF-7	breast:
6	chr21:47647621..47651234-chr21:47875652..47881416,7	K562	blood:
7	chr21:47647133..47651621-chr21:47740452..47747290,19	K562	blood:
8	chr21:47645020..47650682-chr21:47742361..47746485,6	MCF-7	breast:
9	chr21:47647264..47651365-chr21:47875652..47880068,5	K562	blood:
10	chr21:47647133..47651941-chr21:47742263..47745700,6	K562	blood:
11	chr21:47647612..47649806-chr21:48055027..48056571,2	K562	blood:
12	chr21:47569776..47574608-chr21:47647325..47651354,5	K562	blood:
13	chr21:47648918..47651856-chr21:47704004..47707195,4	K562	blood:
14	chr21:47648381..47651139-chr21:47684651..47687035,3	MCF-7	breast:
15	chr21:47602595..47605401-chr21:47649000..47651929,3	K562	blood:
16	chr21:47647592..47650436-chr21:47705418..47707523,3	K562	blood:
17	chr21:47636662..47640838-chr21:47647206..47649915,5	MCF-7	breast:
18	chr21:47649475..47654213-chr21:47668159..47671239,4	MCF-7	breast:
19	chr21:47647765..47652638-chr21:47704055..47705991,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-YBEY-2	chr21:47649438-47650441	ENSG00000215424

Variant related genes	Relation type
LSS	TF binding region
LSS	CpG island
ENSG00000182362	Chromatin interaction
ENSG00000160284	Chromatin interaction
ENSG00000160294	Chromatin interaction
ENSG00000228137	Chromatin interaction
ENSG00000160299	Chromatin interaction
ENSG00000160310	Chromatin interaction
ENSG00000223901	Chromatin interaction
ENSG00000160298	Chromatin interaction
ENSG00000228404	Chromatin interaction
ENSG00000160305	Chromatin interaction
ENSG00000237338	Chromatin interaction

Extended variants
information (count: 134 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs12482209	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13046451	0.91[ASN][1000 genomes]
rs13046494	0.86[ASN][1000 genomes]
rs13049175	0.91[ASN][1000 genomes]
rs13049797	0.86[ASN][1000 genomes]
rs13049893	0.83[ASN][1000 genomes]
rs13050025	0.86[ASN][1000 genomes]
rs13052226	0.85[ASN][1000 genomes]
rs13052376	0.86[ASN][1000 genomes]
rs13052495	0.86[ASN][1000 genomes]
rs13052701	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13052806	0.93[ASN][1000 genomes]
rs17176110	0.85[ASN][1000 genomes]
rs17176513	0.83[ASN][1000 genomes]
rs17176520	0.83[ASN][1000 genomes]
rs17183123	0.93[ASN][1000 genomes]
rs2001289	0.88[ASN][1000 genomes]
rs2014276	0.87[ASN][1000 genomes]
rs2032226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2156117	0.93[ASN][1000 genomes]
rs2187118	0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2187120	0.81[ASN][1000 genomes]
rs2187121	0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2187122	0.81[ASN][1000 genomes]
rs2250213	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2254524	0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs2276257	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2277826	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2280955	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2280956	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2280957	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2280958	0.89[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs2280959	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2330353	0.88[ASN][1000 genomes]
rs2330408	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs2839139	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs2839140	0.82[ASN][1000 genomes]
rs2839141	0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2839144	0.82[ASN][1000 genomes]
rs2839146	0.94[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs2839155	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2839157	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2839160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2839161	0.97[ASN][1000 genomes]
rs2839167	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2839170	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2839171	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2839173	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2839174	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2839175	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2839176	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2839178	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs2839181	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2839184	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2839186	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2839188	0.82[JPT][hapmap]
rs2839189	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2839191	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2839194	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2839196	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2839197	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2839199	0.85[ASN][1000 genomes]
rs2839200	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2839984	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2968	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs34586434	0.81[ASN][1000 genomes]
rs35679325	0.90[ASN][1000 genomes]
rs3788252	0.95[CHB][hapmap];0.92[ASN][1000 genomes]
rs4535149	0.89[ASN][1000 genomes]
rs4818828	0.95[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs4818829	0.81[CHB][hapmap]
rs4818832	0.86[ASN][1000 genomes]
rs4819213	0.82[ASN][1000 genomes]
rs4819214	0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs4819215	0.81[ASN][1000 genomes]
rs4819216	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs4819217	0.92[ASN][1000 genomes]
rs4819218	0.91[ASN][1000 genomes]
rs4819221	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs4819222	0.82[ASN][1000 genomes]
rs4819223	0.84[ASN][1000 genomes]
rs4819225	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4819226	0.80[ASN][1000 genomes]
rs55689527	0.82[ASN][1000 genomes]
rs56840278	0.86[ASN][1000 genomes]
rs56955294	0.86[ASN][1000 genomes]
rs59828751	0.86[ASN][1000 genomes]
rs62212862	0.80[ASN][1000 genomes]
rs62226484	0.82[ASN][1000 genomes]
rs62226486	0.84[ASN][1000 genomes]
rs62226489	0.85[ASN][1000 genomes]
rs6518278	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6518282	0.92[ASN][1000 genomes]
rs6518285	0.93[ASN][1000 genomes]
rs7280110	0.82[ASN][1000 genomes]
rs7282841	0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs8128380	0.94[ASN][1000 genomes]
rs914247	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs915803	0.89[ASN][1000 genomes]
rs9717	0.94[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs9976233	0.82[ASN][1000 genomes]
rs9979525	0.81[ASN][1000 genomes]
rs9980536	0.81[JPT][hapmap]
rs9984242	0.93[ASN][1000 genomes]
rs9984708	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9984986	0.91[ASN][1000 genomes]
rs999691	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 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	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
4	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
5	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
6	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
7	nsv914079	chr21:47243074-47650362	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	n/a
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv1060978	chr21:47488073-47833640	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	n/a
15	nsv914101	chr21:47491014-47650362	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a
16	nsv914116	chr21:47535248-47650362	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
17	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
18	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
19	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
20	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
21	nsv933354	chr21:47609029-47851401	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
22	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
23	nsv914134	chr21:47632995-47712185	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	n/a
24	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
25	esv3322089	chr21:47647549-47650497	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
26	esv3377874	chr21:47647774-47650272	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
27	esv3436984	chr21:47648374-47649822	Flanking Active TSS Active TSS Weak transcription Enhancers 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	15 gene(s)	inside rSNPs	n/a

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs915804	SPATC1L	cis	Artery Tibial	GTEx
rs915804	SPATC1L	cis	Skin Sun Exposed Lower leg	GTEx
rs915804	SPATC1L	cis	Muscle Skeletal	GTEx
rs915804	YBEY	cis	Esophagus Muscularis	GTEx
rs915804	C21orf56	Cis_1M	lymphoblastoid	RTeQTL
rs915804	SPATC1L	cis	Thyroid	GTEx
rs915804	SPATC1L	cis	Adipose Subcutaneous	GTEx
rs915804	YBEY	cis	Esophagus Mucosa	GTEx
rs915804	C21orf56	cis	brain	BrainEAC
rs915804	YBEY	cis	Artery Tibial	GTEx
rs915804	FTCD	cis	Thyroid	GTEx
rs915804	SPATC1L	cis	Whole Blood	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47647000-47650000	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr21:47647000-47650000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr21:47647000-47650200	Active TSS	Fetal Kidney	kidney
4	chr21:47647000-47650400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr21:47647400-47650000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr21:47647600-47650000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr21:47647600-47650000	Active TSS	HSMM	muscle
8	chr21:47647600-47650000	Active TSS	HSMMtube	muscle
9	chr21:47647600-47650200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr21:47647800-47650200	Active TSS	A549	lung
11	chr21:47648000-47650200	Active TSS	Stomach Smooth Muscle	stomach
12	chr21:47648200-47650000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:47649200-47650000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr21:47649200-47650000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr21:47649200-47650000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr21:47649200-47650000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr21:47649200-47650000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr21:47649200-47650000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr21:47649200-47650000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr21:47649200-47650000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr21:47649200-47650000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr21:47649200-47650200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr21:47649400-47650000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr21:47649400-47650000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr21:47649400-47650000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr21:47649400-47650000	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr21:47649400-47650000	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr21:47649400-47650000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr21:47649400-47650000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr21:47649400-47650000	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr21:47649400-47650000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr21:47649400-47650000	Flanking Active TSS	Fetal Brain Male	brain
33	chr21:47649400-47650000	Flanking Active TSS	Fetal Muscle Trunk	muscle
34	chr21:47649400-47650000	Flanking Active TSS	Placenta	Placenta
35	chr21:47649400-47650000	Flanking Active TSS	Fetal Thymus	thymus
36	chr21:47649400-47650000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr21:47649400-47650000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr21:47649400-47650000	Flanking Active TSS	Thymus	Thymus
39	chr21:47649400-47650200	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr21:47649400-47650200	Flanking Active TSS	Dnd41	blood
41	chr21:47649400-47650400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr21:47649400-47650400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr21:47649400-47650400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr21:47649400-47650600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr21:47649600-47650000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
46	chr21:47649600-47650000	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr21:47649600-47650000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr21:47649600-47650000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr21:47649600-47650000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
50	chr21:47649600-47650000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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