Variant report

Variant	rs4818861
Chromosome Location	chr21:45123807-45123808
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45112710..45114771-chr21:45122490..45125054,2	K562	blood:
2	chr21:45123530..45125041-chr21:45125684..45127237,2	MCF-7	breast:
3	chr21:45118172..45120404-chr21:45121185..45123941,2	K562	blood:
4	chr21:45122068..45123972-chr21:45132668..45134422,2	K562	blood:
5	chr21:45116375..45118923-chr21:45123484..45125318,2	MCF-7	breast:
6	chr21:45122716..45124757-chr21:45189120..45191845,2	K562	blood:
7	chr21:45112710..45116467-chr21:45117620..45123990,9	K562	blood:
8	chr21:45123766..45125977-chr21:45129087..45131588,2	K562	blood:

No data

Extended variants
information (count: 120 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs1003280	0.81[JPT][hapmap]
rs10211901	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1073522	0.81[JPT][hapmap]
rs10854486	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11089093	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1122873	0.81[JPT][hapmap]
rs11700909	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11700913	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11702544	0.87[EUR][1000 genomes]
rs11909064	0.96[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12627667	0.81[JPT][hapmap]
rs13051953	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1378080	0.81[JPT][hapmap]
rs141521	0.81[JPT][hapmap]
rs1454648	0.81[JPT][hapmap]
rs1454650	0.81[JPT][hapmap]
rs1454651	0.81[JPT][hapmap]
rs1584917	0.81[JPT][hapmap]
rs1584918	0.81[JPT][hapmap]
rs1598206	0.81[JPT][hapmap]
rs2006113	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2051407	0.81[EUR][1000 genomes]
rs2070533	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155722	0.92[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2186924	0.94[CHB][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs2236665	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2236666	0.96[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2236667	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2246602	0.81[JPT][hapmap]
rs2250773	0.93[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.93[EUR][1000 genomes]
rs2251253	0.93[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.87[EUR][1000 genomes]
rs229357	0.81[JPT][hapmap]
rs2298561	0.96[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap]
rs2298562	0.93[EUR][1000 genomes]
rs2329442	0.81[JPT][hapmap]
rs2329593	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838316	0.80[JPT][hapmap]
rs2838317	0.81[JPT][hapmap]
rs2838319	0.81[JPT][hapmap]
rs2838320	1.00[JPT][hapmap]
rs2838321	0.81[JPT][hapmap]
rs2838323	0.81[JPT][hapmap]
rs2838324	0.81[JPT][hapmap]
rs2838328	0.81[JPT][hapmap]
rs2838330	0.81[JPT][hapmap]
rs2838331	0.81[JPT][hapmap]
rs2838337	0.81[JPT][hapmap]
rs2838341	0.81[JPT][hapmap]
rs2838344	0.92[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes]
rs2838345	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2838348	0.96[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2838350	0.93[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2838351	0.82[CEU][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2838353	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838354	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3788062	0.81[JPT][hapmap]
rs3819161	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs389278	0.93[JPT][hapmap]
rs4818850	0.81[JPT][hapmap]
rs4818858	0.96[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4818859	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4818860	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819270	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs4819283	0.94[EUR][1000 genomes]
rs4819285	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819286	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819287	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4819288	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4819289	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819290	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819291	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819292	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4819293	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819294	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819295	0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4819296	0.87[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6417730	0.91[ASN][1000 genomes]
rs6518301	0.81[JPT][hapmap]
rs6518302	0.81[JPT][hapmap]
rs6518309	0.81[CEU][hapmap];0.86[JPT][hapmap]
rs6518310	0.82[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs6518315	0.93[ASN][1000 genomes]
rs7276215	0.81[JPT][hapmap]
rs7277539	0.80[JPT][hapmap]
rs7279958	0.81[JPT][hapmap]
rs7279959	0.93[JPT][hapmap]
rs7282122	0.93[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.91[EUR][1000 genomes]
rs7282405	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7283428	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs762400	0.96[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8129601	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8131027	0.82[CEU][hapmap]
rs8131111	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8133276	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8133523	0.81[JPT][hapmap]
rs914197	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs914198	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9306160	0.96[CEU][hapmap];0.87[JPT][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9941787	0.94[EUR][1000 genomes]
rs9976441	0.81[JPT][hapmap]
rs9977076	0.87[EUR][1000 genomes]
rs9978811	0.81[JPT][hapmap]
rs9978858	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9980185	0.81[JPT][hapmap]
rs9981291	0.81[JPT][hapmap]
rs9981790	0.81[JPT][hapmap]
rs9982727	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9983670	0.93[EUR][1000 genomes]
rs9983763	0.81[JPT][hapmap]
rs9984002	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
3	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
4	nsv1066728	chr21:45089877-45131723	Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers 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	49 gene(s)	inside rSNPs	diseases
6	nsv1066613	chr21:45108233-45148136	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	esv3424986	chr21:45118675-45158421	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	esv3329872	chr21:45118725-45158757	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv913875	chr21:45119629-45191005	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv913876	chr21:45119629-45267193	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4818861	HSF2BP	cis	multi-tissue	Pritchard

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45111000-45130600	Weak transcription	HSMM	muscle
2	chr21:45115000-45130800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr21:45115800-45131800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr21:45116600-45126600	Weak transcription	Hela-S3	cervix
5	chr21:45116600-45132200	Weak transcription	NHLF	lung
6	chr21:45117000-45127400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr21:45121600-45124400	Enhancers	Fetal Thymus	thymus
8	chr21:45122200-45124400	Enhancers	Adipose Nuclei	Adipose
9	chr21:45122400-45124000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr21:45122800-45124400	Enhancers	Fetal Muscle Leg	muscle
11	chr21:45123000-45124000	Enhancers	Fetal Muscle Trunk	muscle
12	chr21:45123000-45124000	Enhancers	NHDF-Ad	bronchial
13	chr21:45123200-45124000	Enhancers	Fetal Heart	heart
14	chr21:45123200-45124000	Enhancers	Fetal Intestine Large	intestine
15	chr21:45123200-45138200	Weak transcription	Ovary	ovary
16	chr21:45123400-45124000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr21:45123400-45124400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr21:45123400-45131600	Weak transcription	NHEK	skin
19	chr21:45123600-45126400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr21:45123600-45130400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr21:45123600-45131200	Weak transcription	Stomach Mucosa	stomach
22	chr21:45123600-45132200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr21:45123600-45138400	Weak transcription	Right Atrium	heart
24	chr21:45123800-45124400	Enhancers	HepG2	liver
25	chr21:45123800-45126400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr21:45123800-45126600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr21:45123800-45126600	Weak transcription	A549	lung
28	chr21:45123800-45126600	Weak transcription	Osteobl	bone
29	chr21:45123800-45130800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr21:45123800-45131000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr21:45123800-45131600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr21:45123800-45132000	Weak transcription	HSMMtube	muscle

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