Variant report

Variant	rs455906
Chromosome Location	chr21:46014062-46014063
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr21:46013934-46014173	K562	blood:	n/a	n/a
2	MAFK	chr21:46013718-46014121	K562	blood:	n/a	n/a
3	ZNF143	chr21:46013695-46014139	K562	blood:	n/a	n/a
4	TBL1XR1	chr21:46013872-46014109	K562	blood:	n/a	n/a
5	NR2F2	chr21:46013744-46014225	K562	blood:	n/a	n/a
6	GATA1	chr21:46013610-46014459	K562	blood:	n/a	n/a
7	POLR2A	chr21:46013846-46014201	K562	blood:	n/a	n/a
8	PML	chr21:46013794-46014264	K562	blood:	n/a	n/a
9	MAX	chr21:46013457-46014079	K562	blood:	n/a	n/a
10	CEBPB	chr21:46013656-46014348	K562	blood:	n/a	n/a
11	CCNT2	chr21:46013834-46014226	K562	blood:	n/a	n/a
12	PML	chr21:46013778-46014226	K562	blood:	n/a	n/a
13	EP300	chr21:46013933-46014173	K562	blood:	n/a	n/a
14	POLR2A	chr21:46013820-46014259	K562	blood:	n/a	n/a
15	RCOR1	chr21:46013660-46014620	K562	blood:	n/a	n/a
16	POLR2A	chr21:46013638-46014603	K562	blood:	n/a	n/a
17	GATA2	chr21:46013826-46014249	K562	blood:	n/a	n/a
18	MAZ	chr21:46013608-46014627	K562	blood:	n/a	n/a
19	GABPA	chr21:46013804-46014131	K562	blood:	n/a	n/a
20	MYC	chr21:46013813-46014194	K562	blood:	n/a	n/a
21	CUX1	chr21:46013841-46014497	K562	blood:	n/a	n/a
22	ARID3A	chr21:46013768-46014182	K562	blood:	n/a	n/a
23	CEBPB	chr21:46013697-46014257	K562	blood:	n/a	n/a
24	UBTF	chr21:46013863-46014198	K562	blood:	n/a	n/a
25	KAP1	chr21:46013361-46014479	U2OS	brain:	n/a	n/a
26	MAX	chr21:46013530-46014663	K562	blood:	n/a	n/a
27	TBP	chr21:46013755-46014146	K562	blood:	n/a	n/a
28	ATF1	chr21:46013788-46014363	K562	blood:	n/a	n/a
29	NR2F2	chr21:46013690-46014303	K562	blood:	n/a	n/a
30	JUND	chr21:46013661-46014239	K562	blood:	n/a	n/a
31	CBX3	chr21:46013585-46014139	K562	blood:	n/a	n/a
32	KAP1	chr21:46013722-46014218	K562	blood:	n/a	n/a
33	TBL1XR1	chr21:46013663-46014424	K562	blood:	n/a	n/a
34	ZC3H11A	chr21:46013900-46014306	K562	blood:	n/a	n/a
35	HCFC1	chr21:46013852-46014069	K562	blood:	n/a	n/a
36	MAX	chr21:46013265-46014137	HepG2	liver:	n/a	n/a
37	TEAD4	chr21:46013706-46014303	K562	blood:	n/a	n/a
38	GATA2	chr21:46013768-46014266	K562	blood:	n/a	n/a
39	UBTF	chr21:46013657-46014164	K562	blood:	n/a	n/a
40	GATA1	chr21:46013554-46014522	PBDE	blood:	n/a	n/a
41	TRIM28	chr21:46013690-46014226	K562	blood:	n/a	n/a
42	TAL1	chr21:46013733-46014509	K562	blood:	n/a	n/a
43	RCOR1	chr21:46013682-46014198	K562	blood:	n/a	n/a
44	JUN	chr21:46013236-46014738	K562	blood:	n/a	n/a
45	MYBL2	chr21:46013284-46014066	HepG2	liver:	n/a	n/a
46	ZMIZ1	chr21:46013779-46014349	K562	blood:	n/a	n/a
47	MYC	chr21:46013754-46014151	K562	blood:	n/a	n/a
48	POLR2A	chr21:46013429-46014465	K562	blood:	n/a	n/a
49	ZNF384	chr21:46013833-46014178	K562	blood:	n/a	n/a
50	SETDB1	chr21:46013474-46014278	U2OS	brain:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:46013451..46015943-chr21:46020098..46022022,2	K562	blood:
2	chr21:46013183..46015349-chr21:46017921..46020365,2	MCF-7	breast:

No data

Variant related genes	Relation type
KRTAP10-6	TF binding region
ENSG00000205441	Chromatin interaction
ENSG00000256212	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs1211061	0.85[CHB][hapmap]
rs1211088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1211089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1211103	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1211118	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1211121	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1211122	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1211123	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1211129	0.82[EUR][1000 genomes]
rs1211130	0.82[EUR][1000 genomes]
rs12627104	0.91[ASN][1000 genomes]
rs12627414	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2226687	0.85[JPT][hapmap]
rs233298	0.87[ASN][1000 genomes]
rs233299	0.87[ASN][1000 genomes]
rs233300	0.91[ASN][1000 genomes]
rs2838598	0.93[CHB][hapmap]
rs366534	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs367771	0.85[CHB][hapmap]
rs369111	0.81[CHB][hapmap]
rs369720	0.82[ASN][1000 genomes]
rs370092	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs371248	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs377234	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs377573	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs379858	0.85[CHB][hapmap]
rs382935	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs384645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs385033	0.91[ASN][1000 genomes]
rs389936	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs390630	0.92[EUR][1000 genomes]
rs392451	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs392686	0.93[CHB][hapmap];0.83[EUR][1000 genomes]
rs395781	0.82[EUR][1000 genomes]
rs398680	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs400170	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs400368	0.85[CHB][hapmap]
rs400406	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs403981	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs404341	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs408183	0.82[AMR][1000 genomes]
rs408285	0.91[ASN][1000 genomes]
rs408516	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs408958	0.93[CHB][hapmap];0.82[EUR][1000 genomes]
rs409239	0.82[EUR][1000 genomes]
rs409893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs411254	1.00[JPT][hapmap]
rs415753	0.93[CHB][hapmap];0.83[EUR][1000 genomes]
rs416056	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs417538	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs418260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs425276	0.82[EUR][1000 genomes]
rs430609	0.85[CHB][hapmap]
rs434716	0.85[CHB][hapmap]
rs437149	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs437371	0.87[EUR][1000 genomes]
rs438444	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs442110	0.84[ASN][1000 genomes]
rs442226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs442761	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs442849	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs443484	0.92[EUR][1000 genomes]
rs445214	1.00[JPT][hapmap]
rs446817	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs447568	0.81[ASN][1000 genomes]
rs452002	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs452547	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs455413	0.85[CHB][hapmap]
rs455562	0.85[CHB][hapmap]
rs455714	0.85[CHB][hapmap]
rs455777	0.85[CHB][hapmap]
rs456444	0.85[CHB][hapmap]
rs457322	0.85[CHB][hapmap]
rs459644	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs459845	0.85[CHB][hapmap]
rs459915	0.85[CHB][hapmap]
rs460064	0.85[CHB][hapmap]
rs460085	0.85[CHB][hapmap]
rs460122	0.85[CHB][hapmap]
rs462254	0.85[CHB][hapmap]
rs463239	0.85[CHB][hapmap]
rs463267	0.85[CHB][hapmap]
rs463668	0.85[CHB][hapmap]
rs463876	0.95[EUR][1000 genomes]
rs464281	0.85[CHB][hapmap]
rs464504	0.85[CHB][hapmap]
rs464684	0.85[CHB][hapmap]
rs465930	0.85[CHB][hapmap]
rs466094	0.85[CHB][hapmap]
rs466628	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56274513	0.87[ASN][1000 genomes]
rs58757665	0.97[ASN][1000 genomes]
rs659638	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913943	chr21:45740823-46031810	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers 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	52 gene(s)	inside rSNPs	diseases
3	nsv913946	chr21:45838632-46031810	Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv913948	chr21:45860912-46031810	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv1056424	chr21:45894901-46031810	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv544475	chr21:45894901-46031810	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv1055163	chr21:45895663-46031810	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1065798	chr21:45941000-46097463	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv869108	chr21:45941000-46097463	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv544476	chr21:45941000-46097463	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv913950	chr21:45985068-46097463	Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv913952	chr21:45988426-46031810	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	esv2751931	chr21:45990446-46031810	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv587810	chr21:45992131-46031810	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
16	nsv913953	chr21:46012524-46031810	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46002400-46018200	Weak transcription	Right Atrium	heart
2	chr21:46011400-46014400	Enhancers	Liver	Liver
3	chr21:46012200-46014200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr21:46012200-46014400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr21:46012400-46014600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr21:46012600-46014200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr21:46012600-46014200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
8	chr21:46012600-46014400	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr21:46012600-46014600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr21:46012800-46014400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr21:46013000-46014200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr21:46013000-46014400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr21:46013200-46014200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr21:46013200-46014200	Enhancers	Fetal Lung	lung
15	chr21:46013200-46014400	Enhancers	HSMMtube	muscle
16	chr21:46013400-46014200	Enhancers	HMEC	breast
17	chr21:46013400-46014600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr21:46013600-46014200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr21:46013600-46014200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr21:46013800-46014200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr21:46013800-46014200	Enhancers	NHEK	skin
22	chr21:46013800-46014600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr21:46013800-46014600	Flanking Active TSS	K562	blood
24	chr21:46014000-46016000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr21:46014000-46016000	Enhancers	HepG2	liver
26	chr21:46014000-46017600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr21:46014000-46018000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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