Variant report

Variant	rs969060
Chromosome Location	chr21:45080852-45080853
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr21:45080527-45080904	MCF10A-Er-Src	breast:	n/a	n/a
2	NFYB	chr21:45080460-45080854	GM12878	blood:	n/a	n/a
3	MXI1	chr21:45078713-45080971	SK-N-SH	brain:	n/a	n/a
4	IRF1	chr21:45080543-45080976	K562	blood:	n/a	n/a
5	IRF1	chr21:45080463-45081072	K562	blood:	n/a	chr21:45080971-45080985

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44845531..44847121-chr21:45079571..45081083,2	K562	blood:
2	chr21:44844515..44847094-chr21:45079268..45081005,2	MCF-7	breast:
3	chr21:45079723..45081504-chr21:45208735..45210718,2	K562	blood:
4	chr21:45080065..45081996-chr21:45387843..45390331,2	K562	blood:
5	chr21:45079804..45082732-chr21:45140851..45143406,2	MCF-7	breast:
6	chr21:44845531..44848527-chr21:45078395..45081083,3	K562	blood:
7	chr21:45079803..45081678-chr21:45114848..45116362,2	MCF-7	breast:
8	chr21:45079841..45084102-chr21:45134985..45140333,7	K562	blood:
9	chr21:44297552..44300422-chr21:45078415..45081013,3	K562	blood:

No data

Variant related genes	Relation type
HSF2BP	TF binding region
ENSG00000160214	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000160193	Chromatin interaction
ENSG00000160194	Chromatin interaction
ENSG00000142178	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1073522	0.84[EUR][1000 genomes]
rs11089093	0.86[EUR][1000 genomes]
rs1122873	0.87[EUR][1000 genomes]
rs11702544	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11909064	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12626757	0.81[EUR][1000 genomes]
rs12627667	0.87[EUR][1000 genomes]
rs1454648	0.95[EUR][1000 genomes]
rs1454650	0.82[EUR][1000 genomes]
rs1454651	0.81[EUR][1000 genomes]
rs1584917	0.84[EUR][1000 genomes]
rs1584918	0.84[EUR][1000 genomes]
rs2051407	0.98[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2155722	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2236665	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2236666	0.91[ASN][1000 genomes]
rs2236667	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2246602	0.98[EUR][1000 genomes]
rs2250773	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2251253	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2282526	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs229357	0.83[EUR][1000 genomes]
rs2298562	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2329442	0.84[EUR][1000 genomes]
rs2329443	0.96[EUR][1000 genomes]
rs2838316	0.83[EUR][1000 genomes]
rs2838322	0.81[EUR][1000 genomes]
rs2838324	0.81[EUR][1000 genomes]
rs2838329	0.83[EUR][1000 genomes]
rs2838331	0.85[EUR][1000 genomes]
rs2838336	0.87[EUR][1000 genomes]
rs2838337	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2838338	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2838339	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2838340	0.82[EUR][1000 genomes]
rs2838341	0.87[EUR][1000 genomes]
rs2838342	0.86[EUR][1000 genomes]
rs2838343	0.87[EUR][1000 genomes]
rs2838344	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838345	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2838348	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2838350	0.90[ASN][1000 genomes]
rs2838351	0.90[ASN][1000 genomes]
rs35110281	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3819161	0.91[ASN][1000 genomes]
rs4818856	0.84[EUR][1000 genomes]
rs4818858	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4819264	0.86[EUR][1000 genomes]
rs4819270	0.83[EUR][1000 genomes]
rs4819283	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4819290	0.85[EUR][1000 genomes]
rs58451308	0.85[EUR][1000 genomes]
rs6518302	0.83[EUR][1000 genomes]
rs6518309	0.80[EUR][1000 genomes]
rs6518310	0.90[ASN][1000 genomes]
rs7275705	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7276633	0.87[EUR][1000 genomes]
rs7277539	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7279959	0.87[ASN][1000 genomes]
rs7279968	0.87[EUR][1000 genomes]
rs7282122	0.94[ASN][1000 genomes]
rs7282933	0.83[EUR][1000 genomes]
rs762400	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8133523	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9306159	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9306160	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9941787	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9974710	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs9976443	0.84[EUR][1000 genomes]
rs9977074	0.81[EUR][1000 genomes]
rs9977076	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9978858	0.94[ASN][1000 genomes]
rs9980185	0.96[EUR][1000 genomes]
rs9981291	0.83[EUR][1000 genomes]
rs9982727	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9983670	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9983763	0.83[EUR][1000 genomes]
rs9984002	0.93[AFR][1000 genomes];0.95[EUR][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	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834106	chr21:44992387-45109489	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	15 gene(s)	inside rSNPs	diseases
3	nsv587700	chr21:45007956-45095200	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45079000-45081000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr21:45079000-45081000	Active TSS	Brain Germinal Matrix	brain
3	chr21:45079000-45081200	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr21:45079000-45081200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
5	chr21:45079000-45081400	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr21:45079200-45081000	Active TSS	A549	lung
7	chr21:45079200-45081000	Active TSS	GM12878-XiMat	blood
8	chr21:45079400-45081200	Active TSS	HSMM	muscle
9	chr21:45079800-45081000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr21:45079800-45081200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr21:45079800-45081400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr21:45079800-45081400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr21:45080000-45081000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr21:45080200-45081000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr21:45080200-45081400	Enhancers	Spleen	Spleen
16	chr21:45080200-45089800	Weak transcription	Aorta	Aorta
17	chr21:45080400-45081000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr21:45080400-45081000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr21:45080400-45081000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr21:45080400-45081000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr21:45080400-45081000	Flanking Active TSS	Dnd41	blood
22	chr21:45080400-45081000	Flanking Active TSS	HUVEC	blood vessel
23	chr21:45080400-45081000	Flanking Active TSS	NHEK	skin
24	chr21:45080600-45081000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:45080600-45081000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr21:45080600-45081000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr21:45080600-45081000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr21:45080600-45081000	Flanking Active TSS	HMEC	breast
29	chr21:45080600-45081200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr21:45080600-45081200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr21:45080600-45081200	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr21:45080600-45081200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr21:45080600-45081200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr21:45080600-45081200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr21:45080600-45081200	Enhancers	Colon Smooth Muscle	Colon
36	chr21:45080600-45081200	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr21:45080600-45081200	Enhancers	Fetal Lung	lung
38	chr21:45080600-45081200	Weak transcription	Lung	lung
39	chr21:45080600-45081200	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr21:45080600-45081200	Flanking Active TSS	Hela-S3	cervix
41	chr21:45080600-45081200	Flanking Active TSS	HepG2	liver
42	chr21:45080600-45081400	Enhancers	Primary B cells from peripheral blood	blood
43	chr21:45080600-45081400	Enhancers	Gastric	stomach
44	chr21:45080600-45081400	Enhancers	Left Ventricle	heart
45	chr21:45080600-45081600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr21:45080600-45081600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr21:45080600-45081600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr21:45080600-45081600	Weak transcription	Ovary	ovary
49	chr21:45080600-45081600	Enhancers	Pancreas	Pancrea
50	chr21:45080600-45081800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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