Variant report

Variant	rs9982548
Chromosome Location	chr21:40351828-40351829
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr21:40351474-40351944	NB4	blood:	n/a	n/a
2	CEBPB	chr21:40351634-40351893	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr21:40351144-40351960	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr21:40351811-40351842	A549	lung:	n/a	n/a
5	EP300	chr21:40351477-40351860	GM12878	blood:	n/a	n/a
6	CTBP2	chr21:40351310-40352268	H1-hESC	embryonic stem cell:	n/a	n/a
7	FOS	chr21:40351577-40351864	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr21:40351597-40351857	MCF10A-Er-Src	breast:	n/a	n/a
9	MXI1	chr21:40351252-40351877	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3A	chr21:40351253-40352272	H1-hESC	embryonic stem cell:	n/a	chr21:40351511-40351519
11	FOS	chr21:40351611-40351868	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr21:40351595-40351867	MCF10A-Er-Src	breast:	n/a	n/a
13	BACH1	chr21:40351266-40352046	H1-hESC	embryonic stem cell:	n/a	n/a
14	EBF1	chr21:40351457-40352007	GM12878	blood:	n/a	n/a
15	BATF	chr21:40351600-40351934	GM12878	blood:	n/a	n/a
16	BATF	chr21:40351646-40351866	GM12878	blood:	n/a	n/a
17	CEBPB	chr21:40351501-40351966	IMR90	lung:	n/a	n/a
18	MYC	chr21:40351602-40351883	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40347616..40350382-chr21:40351393..40353816,2	MCF-7	breast:
2	chr21:40342214..40345629-chr21:40350907..40355003,4	MCF-7	breast:
3	21:40348344-40365490..21:40748850-40752541	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000232837	TF binding region
ENSG00000232837	Chromatin interaction
ENSG00000227406	Chromatin interaction
ENSG00000182093	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10854393	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10854394	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10854395	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11088460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11088461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12165276	0.90[ASN][1000 genomes]
rs2410071	1.00[CEU][hapmap]
rs2836793	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2836794	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2836809	1.00[CEU][hapmap];0.85[CHD][hapmap]
rs2836810	1.00[CEU][hapmap]
rs60997307	0.88[ASN][1000 genomes]
rs7278217	0.81[ASN][1000 genomes]
rs7283257	0.81[ASN][1000 genomes]
rs732339	1.00[CEU][hapmap];0.85[CHD][hapmap]
rs732340	1.00[CEU][hapmap];0.85[CHD][hapmap]
rs8126897	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs8129750	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8131869	0.88[ASN][1000 genomes]
rs8133475	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs881558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs973193	1.00[CEU][hapmap];0.85[CHD][hapmap]
rs9980120	0.84[ASW][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs9980681	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9981682	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9982800	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9983903	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40332000-40356800	Weak transcription	Right Atrium	heart
2	chr21:40349200-40352200	Weak transcription	Spleen	Spleen
3	chr21:40350400-40354600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr21:40350400-40354600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr21:40350400-40355000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr21:40350400-40356600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr21:40350600-40352000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr21:40350600-40352400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr21:40350600-40352800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr21:40350600-40354600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr21:40351000-40353400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr21:40351000-40354600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr21:40351000-40354800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr21:40351000-40359600	Enhancers	Primary hematopoietic stem cells	blood
15	chr21:40351200-40352000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:40351200-40352000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:40351200-40352000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr21:40351200-40352000	Enhancers	Placenta	Placenta
19	chr21:40351200-40352000	Enhancers	NHEK	skin
20	chr21:40351200-40352200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr21:40351200-40352200	Enhancers	Fetal Intestine Small	intestine
22	chr21:40351200-40352400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr21:40351200-40352400	Enhancers	Hela-S3	cervix
24	chr21:40351200-40353000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr21:40351200-40353800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr21:40351200-40353800	Enhancers	Thymus	Thymus
27	chr21:40351200-40354000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:40351200-40354600	Enhancers	Fetal Kidney	kidney
29	chr21:40351200-40354600	Enhancers	Fetal Thymus	thymus
30	chr21:40351200-40355200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr21:40351200-40355200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr21:40351400-40352000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr21:40351400-40352000	Enhancers	Fetal Muscle Leg	muscle
34	chr21:40351400-40352000	Enhancers	HepG2	liver
35	chr21:40351400-40352000	Enhancers	NHDF-Ad	bronchial
36	chr21:40351400-40352200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr21:40351400-40352200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
38	chr21:40351400-40352200	Enhancers	Fetal Intestine Large	intestine
39	chr21:40351400-40353600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr21:40351400-40354000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr21:40351400-40354200	Enhancers	HSMM	muscle
42	chr21:40351400-40354600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr21:40351600-40352000	Bivalent Enhancer	Osteobl	bone
44	chr21:40351600-40352600	Weak transcription	HSMMtube	muscle
45	chr21:40351600-40353800	Flanking Active TSS	Dnd41	blood
46	chr21:40351600-40354200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr21:40351600-40355600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr21:40351600-40356000	Weak transcription	Esophagus	oesophagus
49	chr21:40351600-40357200	Weak transcription	Lung	lung
50	chr21:40351800-40353600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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