Variant report

Variant	rs4819291
Chromosome Location	chr21:45123139-45123140
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:45120451..45123154-chr21:45126649..45128378,2	MCF-7	breast:
2	chr21:45112710..45114771-chr21:45122490..45125054,2	K562	blood:
3	chr17:39843969..39845473-chr21:45121246..45123539,2	K562	blood:
4	chr21:45118172..45120404-chr21:45121185..45123941,2	K562	blood:
5	chr21:45122068..45123972-chr21:45132668..45134422,2	K562	blood:
6	chr21:45122716..45124757-chr21:45189120..45191845,2	K562	blood:
7	chr21:45112710..45116467-chr21:45117620..45123990,9	K562	blood:
8	chr21:45121738..45123738-chr21:45125330..45128089,2	K562	blood:
9	chr21:45098409..45101229-chr21:45121225..45123505,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173812	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10211901	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1073522	0.81[CEU][hapmap]
rs10854486	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11089092	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11089093	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1122873	0.85[CEU][hapmap]
rs11700909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11700913	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11702544	0.88[EUR][1000 genomes]
rs11909064	0.96[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes]
rs13051953	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1454648	0.85[CEU][hapmap]
rs1454650	0.84[CEU][hapmap]
rs1454651	0.85[CEU][hapmap]
rs1584917	0.85[CEU][hapmap]
rs1584918	0.85[CEU][hapmap]
rs2006113	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2051407	0.83[EUR][1000 genomes]
rs2070533	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155722	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2186924	0.94[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs2236665	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2236666	0.96[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2236667	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2246602	0.81[CEU][hapmap]
rs2250773	1.00[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.96[EUR][1000 genomes]
rs2251253	1.00[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.88[EUR][1000 genomes]
rs229357	0.82[CEU][hapmap]
rs2298561	0.96[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap]
rs2298562	0.94[EUR][1000 genomes]
rs2329442	0.84[CEU][hapmap]
rs2329593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838320	1.00[JPT][hapmap]
rs2838324	0.81[CEU][hapmap]
rs2838331	0.84[CEU][hapmap]
rs2838338	0.84[CEU][hapmap]
rs2838339	0.84[CEU][hapmap]
rs2838344	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes]
rs2838345	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2838348	0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2838350	0.92[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2838351	0.82[CEU][hapmap];0.92[JPT][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2838353	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838354	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3819161	0.89[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs389278	0.92[JPT][hapmap]
rs4818858	0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];0.94[EUR][1000 genomes]
rs4818859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4818860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4818861	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819270	0.85[CEU][hapmap]
rs4819283	0.94[EUR][1000 genomes]
rs4819285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819286	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819287	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4819288	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4819289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819290	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819292	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4819293	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819294	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]
rs6518302	0.84[CEU][hapmap]
rs6518309	0.85[JPT][hapmap]
rs6518310	0.89[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs6518315	0.93[ASN][1000 genomes]
rs7276215	0.82[CEU][hapmap]
rs7276633	0.81[CEU][hapmap]
rs7277539	0.84[CEU][hapmap]
rs7279959	0.92[JPT][hapmap]
rs7282122	1.00[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes]
rs7282405	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7283428	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs762400	0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8129601	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8131027	0.89[CEU][hapmap]
rs8131111	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8133276	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8133523	0.85[CEU][hapmap]
rs914197	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs914198	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9306159	0.85[CEU][hapmap]
rs9306160	0.96[CEU][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9941787	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9977076	0.87[EUR][1000 genomes]
rs9978858	0.92[EUR][1000 genomes]
rs9980185	0.83[CEU][hapmap]
rs9981291	0.84[CEU][hapmap]
rs9982727	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9983670	0.94[EUR][1000 genomes]

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
rs4819291	HSF2BP	cis	multi-tissue	Pritchard

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45111000-45130600	Weak transcription	HSMM	muscle
2	chr21:45113200-45123400	Weak transcription	HSMMtube	muscle
3	chr21:45114600-45123200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:45115000-45130800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr21:45115800-45131800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr21:45116400-45123200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr21:45116600-45126600	Weak transcription	Hela-S3	cervix
8	chr21:45116600-45132200	Weak transcription	NHLF	lung
9	chr21:45117000-45127400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr21:45120400-45123200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr21:45120600-45123800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr21:45121600-45124400	Enhancers	Fetal Thymus	thymus
13	chr21:45122000-45123400	Enhancers	Pancreas	Pancrea
14	chr21:45122000-45123600	Enhancers	Left Ventricle	heart
15	chr21:45122000-45123600	Enhancers	Right Atrium	heart
16	chr21:45122000-45123800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr21:45122000-45123800	Enhancers	Esophagus	oesophagus
18	chr21:45122200-45123200	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr21:45122200-45123600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr21:45122200-45123600	Enhancers	Brain Substantia Nigra	brain
21	chr21:45122200-45123800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr21:45122200-45123800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr21:45122200-45123800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr21:45122200-45123800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:45122200-45123800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr21:45122200-45123800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr21:45122200-45123800	Enhancers	Placenta	Placenta
28	chr21:45122200-45123800	Enhancers	Psoas Muscle	Psoas
29	chr21:45122200-45124400	Enhancers	Adipose Nuclei	Adipose
30	chr21:45122400-45123200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr21:45122400-45123200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
32	chr21:45122400-45123400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr21:45122400-45123400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr21:45122400-45123400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr21:45122400-45123400	Enhancers	Colonic Mucosa	Colon
36	chr21:45122400-45123400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr21:45122400-45123600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr21:45122400-45123600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr21:45122400-45123600	Enhancers	Aorta	Aorta
40	chr21:45122400-45123800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr21:45122400-45123800	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr21:45122400-45123800	Enhancers	Fetal Lung	lung
43	chr21:45122400-45123800	Flanking Active TSS	HepG2	liver
44	chr21:45122400-45124000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr21:45122600-45123200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
46	chr21:45122600-45123200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr21:45122600-45123200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr21:45122600-45123200	Flanking Active TSS	Fetal Intestine Large	intestine
49	chr21:45122600-45123400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr21:45122600-45123400	Enhancers	Primary B cells from cord blood	blood

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