Variant report

Variant	rs11700073
Chromosome Location	chr20:24975215-24975216
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr20:24975086-24976342	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr20:24972584-24976092	A549	lung:	n/a	n/a
3	RAD21	chr20:24975210-24975950	HepG2	liver:	n/a	n/a
4	SMC3	chr20:24975016-24976049	GM12878	blood:	n/a	n/a
5	SMC3	chr20:24975192-24976021	HepG2	liver:	n/a	n/a
6	CTCF	chr20:24975160-24975310	GM12867	blood:	n/a	n/a
7	RAD21	chr20:24975053-24975918	Hela-S3	cervix:	n/a	n/a
8	SMC3	chr20:24975183-24977397	SK-N-SH	brain:	n/a	chr20:24976860-24976870 chr20:24976860-24976874 chr20:24976863-24976871
9	CTCF	chr20:24975200-24975350	GM12878	blood:	n/a	n/a
10	RAD21	chr20:24975168-24976085	MCF-7	breast:	n/a	n/a
11	MXI1	chr20:24975193-24975804	GM12878	blood:	n/a	n/a
12	CTCF	chr20:24975080-24975230	AG04450	lung:	n/a	n/a
13	RAD21	chr20:24975175-24976044	ECC-1	luminal epithelium:	n/a	n/a
14	CTCF	chr20:24975160-24975310	HPAF	blood vessel:	n/a	n/a
15	BRCA1	chr20:24975212-24975315	GM12878	blood:	n/a	n/a
16	CTCF	chr20:24975080-24975230	AoAF	blood vessel:	n/a	n/a
17	CTCF	chr20:24975072-24976237	SK-N-SH	brain:	n/a	n/a
18	WRNIP1	chr20:24975056-24975801	GM12878	blood:	n/a	n/a
19	RAD21	chr20:24975191-24976097	A549	lung:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:24970831..24976063-chr20:25037253..25040567,5	MCF-7	breast:
2	chr20:24974463..24977428-chr20:25038810..25041777,2	MCF-7	breast:
3	chr20:24975144..24976098-chr20:25159512..25160449,4	MCF-7	breast:
4	chr20:24973762..24975336-chr20:25378149..25379762,2	MCF-7	breast:
5	chr20:24974984..24975902-chr20:25119798..25120321,2	MCF-7	breast:
6	chr20:24972575..24975462-chr20:25603621..25605250,2	K562	blood:
7	chr20:24974184..24976552-chr20:25044724..25047326,32	MCF-7	breast:
8	chr20:24973677..24976371-chr20:25035249..25037062,2	MCF-7	breast:
9	chr20:24974985..24976149-chr20:25046073..25047055,8	K562	blood:
10	chr20:24974373..24975913-chr20:24978993..24980704,2	MCF-7	breast:
11	chr20:24975151..24976233-chr20:25045881..25047015,16	MCF-7	breast:
12	chr20:24974829..24976836-chr20:24997683..25000384,2	MCF-7	breast:

No data

Variant related genes	Relation type
APMAP	TF binding region
ENSG00000170191	Chromatin interaction
ENSG00000213742	Chromatin interaction
ENSG00000154930	Chromatin interaction

Extended variants
information (count: 155 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:150)

rs_ID	r²[population]
rs1007881	0.86[JPT][hapmap]
rs1056033	0.88[ASN][1000 genomes]
rs1056036	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11905625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11906373	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12625319	0.86[ASN][1000 genomes]
rs13041643	0.88[ASN][1000 genomes]
rs1331286	0.83[ASN][1000 genomes]
rs1535042	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1854849	0.83[ASN][1000 genomes]
rs1977540	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2008275	0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2092565	0.88[ASN][1000 genomes]
rs2103736	0.88[ASN][1000 genomes]
rs2151462	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2151463	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2179729	0.88[ASN][1000 genomes]
rs2179730	0.86[ASN][1000 genomes]
rs2179732	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2225459	0.88[ASN][1000 genomes]
rs2235847	0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs227590	0.85[ASN][1000 genomes]
rs227597	0.83[ASN][1000 genomes]
rs227598	0.80[ASN][1000 genomes]
rs227613	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs227614	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227615	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227616	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs227618	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227619	0.93[ASN][1000 genomes]
rs227620	0.93[ASN][1000 genomes]
rs227621	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs227622	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs227623	0.93[ASN][1000 genomes]
rs227624	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs227625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs227626	0.93[ASN][1000 genomes]
rs227627	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227628	0.93[ASN][1000 genomes]
rs227629	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs227630	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs227631	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs227632	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs227633	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs227634	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs227635	0.93[ASN][1000 genomes]
rs227639	0.93[ASN][1000 genomes]
rs227643	0.93[ASN][1000 genomes]
rs227646	0.93[ASN][1000 genomes]
rs227648	0.93[ASN][1000 genomes]
rs227649	0.83[ASN][1000 genomes]
rs227650	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs227651	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs227652	0.93[ASN][1000 genomes]
rs227653	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs227657	0.93[ASN][1000 genomes]
rs227658	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs227659	0.93[ASN][1000 genomes]
rs2387365	0.83[ASN][1000 genomes]
rs2387366	0.88[ASN][1000 genomes]
rs2387572	0.88[ASN][1000 genomes]
rs2424691	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2892279	0.86[ASN][1000 genomes]
rs34419834	0.88[ASN][1000 genomes]
rs3746330	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4273288	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4527284	0.82[ASN][1000 genomes]
rs4539860	0.88[ASN][1000 genomes]
rs45468392	0.93[ASN][1000 genomes]
rs45556041	0.93[ASN][1000 genomes]
rs4813541	0.88[ASN][1000 genomes]
rs4813542	0.88[ASN][1000 genomes]
rs4815325	0.80[EUR][1000 genomes]
rs4815327	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4815337	0.88[ASN][1000 genomes]
rs4815339	0.86[ASN][1000 genomes]
rs4815340	0.88[ASN][1000 genomes]
rs4815341	0.86[ASN][1000 genomes]
rs4815351	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4815355	0.88[ASN][1000 genomes]
rs4815357	0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs56312312	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57265446	0.95[ASN][1000 genomes]
rs58244398	0.97[ASN][1000 genomes]
rs6036976	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6050134	0.83[ASN][1000 genomes]
rs6050177	0.86[ASN][1000 genomes]
rs6050179	0.86[ASN][1000 genomes]
rs6050181	0.86[ASN][1000 genomes]
rs6050198	0.85[CHB][hapmap]
rs6050201	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6050249	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6050255	0.86[JPT][hapmap]
rs6050259	0.86[JPT][hapmap]
rs6050261	0.86[JPT][hapmap]
rs6083684	0.88[ASN][1000 genomes]
rs6083685	0.88[ASN][1000 genomes]
rs6083686	0.88[ASN][1000 genomes]
rs6083688	0.88[ASN][1000 genomes]
rs6083692	0.86[ASN][1000 genomes]
rs6083699	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6083709	0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6106975	0.86[ASN][1000 genomes]
rs6106984	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6114980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6114981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6114984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6114988	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6114992	0.82[ASN][1000 genomes]
rs6132773	0.88[ASN][1000 genomes]
rs6132774	0.88[ASN][1000 genomes]
rs6132775	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6132777	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6132778	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6132783	0.90[ASN][1000 genomes]
rs6132784	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6132785	0.81[ASN][1000 genomes]
rs6132789	0.86[JPT][hapmap]
rs6138417	0.88[ASN][1000 genomes]
rs6138423	0.88[ASN][1000 genomes]
rs6138431	0.82[ASN][1000 genomes]
rs6138435	0.88[ASN][1000 genomes]
rs6138437	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6138438	0.93[ASN][1000 genomes]
rs6138442	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6138453	0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6138455	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6138456	0.97[ASN][1000 genomes]
rs6138457	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6138458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6138460	0.90[ASN][1000 genomes]
rs6138461	0.87[ASN][1000 genomes]
rs6138463	0.85[ASN][1000 genomes]
rs6138466	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6138473	0.86[JPT][hapmap]
rs6138474	0.86[JPT][hapmap]
rs6138475	0.86[JPT][hapmap]
rs62215110	0.93[ASN][1000 genomes]
rs62215115	0.93[ASN][1000 genomes]
rs62215128	0.97[ASN][1000 genomes]
rs62215131	0.97[ASN][1000 genomes]
rs6707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7268095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7269416	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs735886	0.88[ASN][1000 genomes]
rs8125909	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs8183891	0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs914314	0.83[ASN][1000 genomes]
rs926661	0.86[ASN][1000 genomes]
rs926662	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers 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	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1056345	chr20:24819570-25168159	Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv585745	chr20:24932028-25007089	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24973800-24975400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:24973800-24975800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:24973800-24975800	Weak transcription	Lung	lung
4	chr20:24974000-24975600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr20:24974000-24975600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr20:24974000-24975600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr20:24974000-24975600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr20:24974000-24975800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr20:24974000-24975800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr20:24974000-24975800	Weak transcription	HSMMtube	muscle
11	chr20:24974000-24976000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr20:24974000-24976000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr20:24974000-24976200	Enhancers	Primary B cells from peripheral blood	blood
14	chr20:24974000-24976200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr20:24974000-24976200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr20:24974000-24976200	Enhancers	Fetal Intestine Small	intestine
17	chr20:24974000-24976400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr20:24974000-24976400	Enhancers	Fetal Thymus	thymus
19	chr20:24974000-24976600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr20:24974000-24976800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr20:24974000-24976800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr20:24974000-24977000	Enhancers	Fetal Muscle Leg	muscle
23	chr20:24974000-24977800	Enhancers	Placenta	Placenta
24	chr20:24974000-24979000	Enhancers	Duodenum Mucosa	Duodenum
25	chr20:24974000-24981000	Weak transcription	Psoas Muscle	Psoas
26	chr20:24974000-24985800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr20:24974000-24985800	Weak transcription	Thymus	Thymus
28	chr20:24974000-24986400	Weak transcription	Aorta	Aorta
29	chr20:24974200-24975400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr20:24974200-24975400	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr20:24974200-24975400	Enhancers	K562	blood
32	chr20:24974200-24975600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr20:24974200-24975600	Enhancers	Brain Anterior Caudate	brain
34	chr20:24974200-24975600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr20:24974200-24975600	Enhancers	Brain Substantia Nigra	brain
36	chr20:24974200-24975600	Enhancers	Colon Smooth Muscle	Colon
37	chr20:24974200-24975600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr20:24974200-24975600	Enhancers	Osteobl	bone
39	chr20:24974200-24975800	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr20:24974200-24976000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr20:24974200-24976000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr20:24974200-24976000	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr20:24974200-24976200	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr20:24974200-24976200	Enhancers	Dnd41	blood
45	chr20:24974200-24976200	Enhancers	HMEC	breast
46	chr20:24974200-24976600	Weak transcription	Right Atrium	heart
47	chr20:24974200-24976800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr20:24974200-24985200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr20:24974200-24985800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr20:24974200-24988200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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