Variant report

Variant	rs418260
Chromosome Location	chr21:46012524-46012525
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr21:46012306-46012726	ECC-1	luminal epithelium:	n/a	n/a
2	TCF12	chr21:46012275-46012963	ECC-1	luminal epithelium:	n/a	chr21:46012677-46012687

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46012520-46012570	HCF	heart:	n/a
2	chr21:46012520-46012570	IMR90	lung:	fetal
3	chr21:46012520-46012570	HCT-116	colon:	n/a
4	chr21:46012520-46012570	Hela-S3	cervix:	n/a
5	chr21:46012520-46012570	ovcar-3	ovarian:	n/a
6	chr21:46012520-46012570	Hepatocyte	liver:	n/a
7	chr21:46012520-46012570	HCPEpiC	choroid plexus:	n/a
8	chr21:46012520-46012570	CMK	blood:	n/a
9	chr21:46012520-46012570	RPTEC	kidney:	n/a
10	chr21:46012520-46012570	AG04450	lung:	fetal
11	chr21:46012520-46012570	NB4	blood:	n/a
12	chr21:46012520-46012570	PrEC	prostate:	n/a
13	chr21:46012520-46012570	HMEC	breast:	n/a
14	chr21:46012520-46012570	SK-N-MC	brain:	n/a
15	chr21:46012520-46012570	HPAEpiC	pulmonary alveolar:	n/a
16	chr21:46012520-46012570	Caco-2	colon:	n/a
17	chr21:46012520-46012570	AG09319	gingival:	n/a
18	chr21:46012520-46012570	GM06990	blood:	n/a
19	chr21:46012520-46012570	T-47D	breast:	n/a
20	chr21:46012520-46012570	HIPEpiC	eye:	n/a
21	chr21:46012520-46012570	HL-60	blood:	n/a
22	chr21:46012520-46012570	BJ	skin:	n/a
23	chr21:46012520-46012570	HEEpiC	esophagus:	n/a
24	chr21:46012520-46012570	HepG2	liver:	n/a
25	chr21:46012520-46012570	BE2_C	brain:	n/a
26	chr21:46012520-46012570	SK-N-SH_RA	brain:	n/a
27	chr21:46012520-46012570	HEK293	kidney:	embryo
28	chr21:46012520-46012570	AoSMC	blood vessel:	n/a
29	chr21:46012520-46012570	NHDF-neo	bronchial:	n/a
30	chr21:46012520-46012570	H1-hESC	embryonic stem cell:	embryo
31	chr21:46012520-46012570	HNPCEpiC	eye:	n/a
32	chr21:46012520-46012570	HCM	heart:	n/a
33	chr21:46012520-46012570	LNCaP	prostate:	n/a
34	chr21:46012520-46012570	ProgFib	skin:	n/a
35	chr21:46012520-46012570	PANC-1	pancreas:	n/a
36	chr21:46012520-46012570	K562	blood:	n/a
37	chr21:46012520-46012570	GM12892	blood:	n/a
38	chr21:46012520-46012570	AG10803	skin:	n/a
39	chr21:46012520-46012570	MCF10A-Er-Src	breast:	n/a
40	chr21:46012520-46012570	NHBE	bronchial:	n/a
41	chr21:46012520-46012570	GM12878	blood:	n/a
42	chr21:46012520-46012570	AG04449	skin:	fetal
43	chr21:46012520-46012570	NT2-D1	testis:	n/a
44	chr21:46012520-46012570	SKMC	muscle:	n/a
45	chr21:46012520-46012570	HRE	kidney:	n/a
46	chr21:46012520-46012570	MCF-7	breast:	n/a
47	chr21:46012520-46012570	HRCEpiC	kidney:	n/a
48	chr21:46012520-46012570	PFSK-1	brain:	n/a
49	chr21:46012520-46012570	NH-A	brain:	n/a
50	chr21:46012520-46012570	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:46010036..46012728-chr21:46031362..46034012,2	MCF-7	breast:

No data

Variant related genes	Relation type
KRTAP10-6	TF binding region
KRTAP10-6	CpG island
ENSG00000187766	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1211061	0.87[CHB][hapmap]
rs1211088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1211089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1211103	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.93[ASN][1000 genomes]
rs1211118	0.87[ASN][1000 genomes]
rs1211121	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1211122	0.87[ASN][1000 genomes]
rs1211123	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12627104	0.92[ASN][1000 genomes]
rs12627414	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.87[ASN][1000 genomes]
rs170849	1.00[MEX][hapmap]
rs2226687	1.00[MEX][hapmap]
rs233268	0.82[MEX][hapmap]
rs233272	0.82[MEX][hapmap]
rs233298	0.89[ASN][1000 genomes]
rs233299	0.88[ASN][1000 genomes]
rs233300	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838598	0.94[CHB][hapmap];0.82[MEX][hapmap]
rs366534	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs367771	0.81[CHB][hapmap]
rs369111	0.85[CHB][hapmap]
rs369720	0.83[ASN][1000 genomes]
rs370092	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs371248	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs377234	1.00[CHB][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.97[ASN][1000 genomes]
rs377573	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs379858	0.87[CHB][hapmap]
rs382935	1.00[CHB][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.87[ASN][1000 genomes]
rs384645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs385033	0.92[ASN][1000 genomes]
rs389936	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs392451	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs392686	0.94[CHB][hapmap];0.80[GIH][hapmap];0.82[MEX][hapmap]
rs398680	1.00[CHB][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.92[ASN][1000 genomes]
rs400170	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs400368	0.87[CHB][hapmap]
rs400406	1.00[CEU][hapmap];0.84[JPT][hapmap]
rs403981	1.00[CHB][hapmap];0.87[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.97[ASN][1000 genomes]
rs404341	1.00[CHB][hapmap];0.87[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.97[ASN][1000 genomes]
rs408285	0.93[ASN][1000 genomes]
rs408516	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs408958	0.94[CHB][hapmap]
rs409893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs411254	0.86[JPT][hapmap];1.00[MEX][hapmap]
rs415753	0.94[CHB][hapmap]
rs416056	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs417538	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs430609	0.87[CHB][hapmap]
rs434716	0.87[CHB][hapmap]
rs437149	0.92[ASN][1000 genomes]
rs437371	0.92[EUR][1000 genomes]
rs438444	1.00[CEU][hapmap]
rs442110	0.85[ASN][1000 genomes]
rs442226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs442761	0.93[ASN][1000 genomes]
rs442849	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs445214	0.86[JPT][hapmap];0.82[MEX][hapmap]
rs446817	0.90[ASN][1000 genomes]
rs447568	0.82[ASN][1000 genomes]
rs452002	1.00[CHB][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[ASN][1000 genomes]
rs452547	0.97[ASN][1000 genomes]
rs455413	0.87[CHB][hapmap]
rs455562	0.87[CHB][hapmap]
rs455714	0.87[CHB][hapmap]
rs455777	0.87[CHB][hapmap]
rs455906	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]
rs456019	0.82[MEX][hapmap]
rs456444	0.87[CHB][hapmap]
rs457322	0.87[CHB][hapmap]
rs459644	1.00[CEU][hapmap];0.92[GIH][hapmap]
rs459845	0.87[CHB][hapmap]
rs459915	0.87[CHB][hapmap]
rs460064	0.87[CHB][hapmap]
rs460085	0.87[CHB][hapmap]
rs460122	0.87[CHB][hapmap]
rs462254	0.87[CHB][hapmap]
rs463239	0.87[CHB][hapmap]
rs463267	0.87[CHB][hapmap]
rs463668	0.87[CHB][hapmap]
rs463876	0.80[EUR][1000 genomes]
rs464281	0.87[CHB][hapmap]
rs464504	0.87[CHB][hapmap]
rs464684	0.87[CHB][hapmap]
rs465930	0.87[CHB][hapmap]
rs466094	0.87[CHB][hapmap]
rs466628	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs487102	1.00[MEX][hapmap]
rs56274513	0.88[ASN][1000 genomes]
rs58029281	0.80[ASN][1000 genomes]
rs58757665	0.98[ASN][1000 genomes]
rs659638	1.00[CHB][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	esv3361489	chr21:45669073-46013747	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv913951	chr21:45985068-46012524	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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
16	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
17	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
18	esv3360675	chr21:46010349-46012897	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45998800-46012800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:46002400-46018200	Weak transcription	Right Atrium	heart
3	chr21:46011000-46012600	Enhancers	Fetal Muscle Leg	muscle
4	chr21:46011200-46013200	Enhancers	HepG2	liver
5	chr21:46011400-46012600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr21:46011400-46014000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:46011400-46014000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
8	chr21:46011400-46014400	Enhancers	Liver	Liver
9	chr21:46011600-46013000	Enhancers	Esophagus	oesophagus
10	chr21:46012000-46013400	Weak transcription	HMEC	breast
11	chr21:46012200-46014000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:46012200-46014000	Enhancers	Placenta	Placenta
13	chr21:46012200-46014200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr21:46012200-46014400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr21:46012400-46012800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr21:46012400-46012800	Enhancers	Spleen	Spleen
17	chr21:46012400-46013600	Bivalent Enhancer	Fetal Stomach	stomach
18	chr21:46012400-46014600	Enhancers	HUES6 Cell Line	embryonic stem cell

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