Variant report

Variant	rs914197
Chromosome Location	chr21:45117439-45117440
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45109608..45112667-chr21:45115879..45118548,4	K562	blood:
2	chr21:45116375..45118923-chr21:45123484..45125318,2	MCF-7	breast:
3	chr21:45116317..45117911-chr21:45138297..45140746,2	MCF-7	breast:
4	chr21:45109608..45111487-chr21:45115879..45118548,2	K562	blood:
5	chr21:45112896..45115809-chr21:45116596..45119120,4	K562	blood:

Variant related genes	Relation type
ENSG00000160209	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10211901	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10854486	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11089092	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11089093	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11700909	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11700913	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11702544	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11909064	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13051953	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2006113	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2051407	0.85[EUR][1000 genomes]
rs2070533	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2155722	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2186924	0.92[ASN][1000 genomes]
rs2236665	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2236666	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2236667	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2250773	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2251253	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2298562	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2329593	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838344	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2838345	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2838348	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2838350	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2838351	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2838353	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838354	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3819161	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4818858	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4818859	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4818860	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4818861	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819283	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4819285	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819286	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819287	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4819288	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4819289	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819290	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819291	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819292	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4819293	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819294	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819295	0.88[ASN][1000 genomes]
rs4819296	0.89[ASN][1000 genomes]
rs6417730	0.88[ASN][1000 genomes]
rs6518310	0.81[ASN][1000 genomes]
rs6518315	0.90[ASN][1000 genomes]
rs7277539	0.82[EUR][1000 genomes]
rs7282122	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7282405	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7283428	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs762400	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8129601	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8131111	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8133276	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs914198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306160	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9941787	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9977076	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9978858	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9982727	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9983670	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45080600-45122400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:45080800-45121800	Weak transcription	Fetal Heart	heart
3	chr21:45080800-45122600	Weak transcription	Small Intestine	intestine
4	chr21:45088800-45118200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr21:45094000-45117600	Strong transcription	Fetal Intestine Small	intestine
6	chr21:45094800-45122000	Weak transcription	Right Atrium	heart
7	chr21:45100800-45117600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr21:45106800-45120800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr21:45111000-45130600	Weak transcription	HSMM	muscle
10	chr21:45111200-45122800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr21:45111400-45120600	Weak transcription	Stomach Mucosa	stomach
12	chr21:45112800-45117600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr21:45113000-45122200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:45113200-45122600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr21:45113200-45123400	Weak transcription	HSMMtube	muscle
16	chr21:45113800-45121800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr21:45113800-45122400	Weak transcription	Fetal Brain Male	brain
18	chr21:45114000-45122400	Weak transcription	NHDF-Ad	bronchial
19	chr21:45114200-45118400	Weak transcription	HUVEC	blood vessel
20	chr21:45114200-45122600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr21:45114400-45121200	Weak transcription	Brain Angular Gyrus	brain
22	chr21:45114600-45119800	Weak transcription	Brain Substantia Nigra	brain
23	chr21:45114600-45122000	Weak transcription	Esophagus	oesophagus
24	chr21:45114600-45122200	Weak transcription	Psoas Muscle	Psoas
25	chr21:45114600-45123200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr21:45114800-45120600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr21:45114800-45120800	Weak transcription	GM12878-XiMat	blood
28	chr21:45114800-45122200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr21:45114800-45122200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr21:45114800-45122200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr21:45115000-45119800	Weak transcription	Brain Hippocampus Middle	brain
32	chr21:45115000-45119800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr21:45115000-45120400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr21:45115000-45122200	Weak transcription	Gastric	stomach
35	chr21:45115000-45122800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr21:45115000-45122800	Weak transcription	Fetal Brain Female	brain
37	chr21:45115000-45130800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr21:45115200-45119400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr21:45115200-45122200	Weak transcription	Adipose Nuclei	Adipose
40	chr21:45115400-45119600	Weak transcription	Brain Anterior Caudate	brain
41	chr21:45115400-45120400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr21:45115400-45122400	Weak transcription	Fetal Lung	lung
43	chr21:45115600-45122600	Weak transcription	Osteobl	bone
44	chr21:45115800-45131800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr21:45116000-45117600	Weak transcription	K562	blood
46	chr21:45116000-45122600	Weak transcription	NH-A	brain
47	chr21:45116200-45117600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr21:45116200-45117600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr21:45116200-45122000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr21:45116200-45122200	Weak transcription	Placenta	Placenta

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