Variant report

Variant	rs2282526
Chromosome Location	chr21:45080552-45080553
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr21:45080443-45080785	NB4	blood:	n/a	n/a
2	POLR2A	chr21:45078985-45080792	GM12892	blood:	n/a	n/a
3	CTCF	chr21:45080480-45080630	HCPEpiC	choroid plexus:	n/a	n/a
4	PML	chr21:45080309-45080826	GM12878	blood:	n/a	n/a
5	USF1	chr21:45080453-45080808	K562	blood:	n/a	n/a
6	USF1	chr21:45080479-45080676	SK-N-SH_RA	brain:	n/a	n/a
7	HEY1	chr21:45080399-45080628	HepG2	liver:	n/a	n/a
8	POLR2A	chr21:45080367-45080691	GM12892	blood:	n/a	n/a
9	TAF1	chr21:45080452-45080705	GM12891	blood:	n/a	n/a
10	POLR2A	chr21:45080358-45080748	GM12891	blood:	n/a	n/a
11	USF1	chr21:45080513-45080668	GM12878	blood:	n/a	n/a
12	POLR2A	chr21:45078261-45080594	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr21:45080468-45080745	MCF10A-Er-Src	breast:	n/a	n/a
14	MAX	chr21:45080453-45080737	K562	blood:	n/a	n/a
15	USF1	chr21:45080430-45080785	H1-hESC	embryonic stem cell:	n/a	n/a
16	USF1	chr21:45080495-45080704	HepG2	liver:	n/a	n/a
17	POLR2A	chr21:45080416-45080760	GM12891	blood:	n/a	n/a
18	MYC	chr21:45080527-45080904	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr21:45080423-45080647	GM12878	blood:	n/a	n/a
20	TAF1	chr21:45080478-45080667	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr21:45080502-45080655	Hela-S3	cervix:	n/a	n/a
22	USF2	chr21:45080483-45080782	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr21:45080470-45080736	HepG2	liver:	n/a	n/a
24	MAX	chr21:45080506-45080759	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr21:45078627-45080622	HepG2	liver:	n/a	n/a
26	POLR2A	chr21:45080434-45080670	Raji	blood:	n/a	n/a
27	RUNX3	chr21:45080228-45080810	GM12878	blood:	n/a	n/a
28	POLR2A	chr21:45080314-45080654	HUVEC	blood vessel:	n/a	n/a
29	MYC	chr21:45080471-45080744	NB4	blood:	n/a	n/a
30	POLR2A	chr21:45080249-45080830	GM12892	blood:	n/a	n/a
31	MYC	chr21:45080472-45080716	K562	blood:	n/a	n/a
32	BHLHE40	chr21:45080422-45080816	GM12878	blood:	n/a	n/a
33	USF2	chr21:45080455-45080763	GM12878	blood:	n/a	n/a
34	POLR2A	chr21:45080398-45080723	IMR90	lung:	n/a	n/a
35	BHLHE40	chr21:45080461-45080756	HepG2	liver:	n/a	n/a
36	USF1	chr21:45080443-45080735	H1-hESC	embryonic stem cell:	n/a	n/a
37	MXI1	chr21:45080440-45080716	GM12878	blood:	n/a	n/a
38	USF1	chr21:45080466-45080686	GM12878	blood:	n/a	n/a
39	USF1	chr21:45080477-45080737	HepG2	liver:	n/a	n/a
40	POLR2A	chr21:45079081-45080835	GM12878	blood:	n/a	n/a
41	NFYB	chr21:45080460-45080854	GM12878	blood:	n/a	n/a
42	TAF1	chr21:45080348-45080760	GM12878	blood:	n/a	n/a
43	E2F6	chr21:45080485-45080688	K562	blood:	n/a	n/a
44	POLR2A	chr21:45080462-45080724	Hela-S3	cervix:	n/a	n/a
45	USF1	chr21:45080436-45080727	SK-N-SH_RA	brain:	n/a	n/a
46	MXI1	chr21:45078713-45080971	SK-N-SH	brain:	n/a	n/a
47	RCOR1	chr21:45080485-45080668	K562	blood:	n/a	n/a
48	MYC	chr21:45080548-45080791	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr21:45080391-45080702	GM12891	blood:	n/a	n/a
50	USF1	chr21:45080430-45080693	A549	lung:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45076259..45080839-chr21:45207005..45211007,4	MCF-7	breast:
2	chr21:44845531..44847121-chr21:45079571..45081083,2	K562	blood:
3	chr21:44844515..44847094-chr21:45079268..45081005,2	MCF-7	breast:
4	chr21:45077838..45080620-chr21:45152184..45154376,2	MCF-7	breast:
5	chr21:45078168..45080813-chr21:45138258..45142239,4	K562	blood:
6	chr21:45079723..45081504-chr21:45208735..45210718,2	K562	blood:
7	chr10:30721466..30724212-chr21:45078300..45080802,2	MCF-7	breast:
8	chr21:45080065..45081996-chr21:45387843..45390331,2	K562	blood:
9	chr21:45079804..45082732-chr21:45140851..45143406,2	MCF-7	breast:
10	chr21:44845531..44848527-chr21:45078395..45081083,3	K562	blood:
11	chr21:45079803..45081678-chr21:45114848..45116362,2	MCF-7	breast:
12	chr21:45079841..45084102-chr21:45134985..45140333,7	K562	blood:
13	chr21:44297552..44300422-chr21:45078415..45081013,3	K562	blood:

No data

Variant related genes	Relation type
HSF2BP	TF binding region
ENSG00000160214	Chromatin interaction
ENSG00000142178	Chromatin interaction
ENSG00000160194	Chromatin interaction
ENSG00000107968	Chromatin interaction
ENSG00000160193	Chromatin interaction
ENSG00000160209	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];0.95[ASN][1000 genomes]
rs11909064	0.87[EUR][1000 genomes];0.95[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	0.97[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2155722	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2236665	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2236666	0.93[ASN][1000 genomes]
rs2236667	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2246602	0.98[EUR][1000 genomes]
rs2250773	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2251253	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs229357	0.83[EUR][1000 genomes]
rs2298562	0.81[EUR][1000 genomes];0.95[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	0.94[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	0.94[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];0.95[ASN][1000 genomes]
rs2838345	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838348	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838350	0.91[ASN][1000 genomes]
rs2838351	0.91[ASN][1000 genomes]
rs35110281	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3819161	0.93[ASN][1000 genomes]
rs4818856	0.84[EUR][1000 genomes]
rs4818858	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4819264	0.86[EUR][1000 genomes]
rs4819270	0.83[EUR][1000 genomes]
rs4819283	0.81[EUR][1000 genomes];0.95[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	0.91[ASN][1000 genomes]
rs7275705	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7276633	0.87[EUR][1000 genomes]
rs7277539	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7279959	0.88[ASN][1000 genomes]
rs7279968	0.87[EUR][1000 genomes]
rs7282122	0.95[ASN][1000 genomes]
rs7282933	0.83[EUR][1000 genomes]
rs762400	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8133523	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9306159	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9306160	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs969060	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9941787	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9974710	0.86[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];0.95[ASN][1000 genomes]
rs9978858	0.95[ASN][1000 genomes]
rs9980185	0.96[EUR][1000 genomes]
rs9981291	0.83[EUR][1000 genomes]
rs9982727	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9983670	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9983763	0.83[EUR][1000 genomes]
rs9984002	0.92[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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45078800-45080600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr21:45079000-45080600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr21:45079000-45080600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:45079000-45080600	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr21:45079000-45080600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr21:45079000-45080600	Active TSS	Ovary	ovary
7	chr21:45079000-45080600	Active TSS	HSMMtube	muscle
8	chr21:45079000-45080800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr21:45079000-45080800	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr21:45079000-45080800	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr21:45079000-45080800	Active TSS	Psoas Muscle	Psoas
12	chr21:45079000-45081000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr21:45079000-45081000	Active TSS	Brain Germinal Matrix	brain
14	chr21:45079000-45081200	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr21:45079000-45081200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr21:45079000-45081400	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr21:45079200-45080600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr21:45079200-45080600	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr21:45079200-45080600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr21:45079200-45080600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr21:45079200-45080600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr21:45079200-45080600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr21:45079200-45080600	Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr21:45079200-45080600	Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr21:45079200-45080600	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr21:45079200-45080600	Active TSS	Esophagus	oesophagus
27	chr21:45079200-45080600	Active TSS	Gastric	stomach
28	chr21:45079200-45080600	Active TSS	Lung	lung
29	chr21:45079200-45080600	Active TSS	Small Intestine	intestine
30	chr21:45079200-45080600	Active TSS	Hela-S3	cervix
31	chr21:45079200-45080800	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr21:45079200-45080800	Active TSS	H1 Cell Line	embryonic stem cell
33	chr21:45079200-45080800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr21:45079200-45080800	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr21:45079200-45080800	Active TSS	NHLF	lung
36	chr21:45079200-45081000	Active TSS	A549	lung
37	chr21:45079200-45081000	Active TSS	GM12878-XiMat	blood
38	chr21:45079400-45080600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr21:45079400-45080600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr21:45079400-45080600	Active TSS	Primary T cells from cord blood	blood
41	chr21:45079400-45080600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr21:45079400-45080600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr21:45079400-45080600	Active TSS	Thymus	Thymus
44	chr21:45079400-45080600	Active TSS	HepG2	liver
45	chr21:45079400-45080600	Active TSS	HMEC	breast
46	chr21:45079400-45080600	Active TSS	K562	blood
47	chr21:45079400-45080600	Active TSS	NHDF-Ad	bronchial
48	chr21:45079400-45080800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr21:45079400-45080800	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr21:45079400-45080800	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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