Variant report

Variant	rs718470
Chromosome Location	chr21:45085035-45085036
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45084057..45085743-chr21:45138853..45140795,2	MCF-7	breast:
2	chr21:45083913..45086449-chr21:45100851..45103835,2	MCF-7	breast:
3	chr21:45082895..45085626-chr21:45107142..45109564,2	MCF-7	breast:
4	chr21:45083777..45085513-chr21:45107892..45110105,2	K562	blood:

Variant related genes	Relation type
ENSG00000160209	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1003280	0.86[YRI][hapmap]
rs1041455	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11911865	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12165286	1.00[EUR][1000 genomes]
rs12329926	0.87[AFR][1000 genomes]
rs141521	0.86[YRI][hapmap]
rs1584917	0.82[YRI][hapmap]
rs1598206	0.82[YRI][hapmap]
rs162344	0.82[YRI][hapmap]
rs2246602	0.82[YRI][hapmap]
rs2329600	1.00[EUR][1000 genomes]
rs2838323	0.86[YRI][hapmap]
rs2838328	0.82[YRI][hapmap]
rs2838330	0.82[YRI][hapmap]
rs2838346	0.82[YRI][hapmap];0.88[AFR][1000 genomes]
rs2838347	1.00[CEU][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes]
rs2838349	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs28405975	1.00[EUR][1000 genomes]
rs4818850	0.82[YRI][hapmap]
rs61737067	1.00[EUR][1000 genomes]
rs73369437	1.00[EUR][1000 genomes]
rs73908376	1.00[EUR][1000 genomes]
rs8133686	1.00[CEU][hapmap]
rs9974343	1.00[CEU][hapmap];0.87[AFR][1000 genomes]
rs9974513	1.00[EUR][1000 genomes]
rs9976441	0.82[YRI][hapmap]
rs9977028	0.86[AFR][1000 genomes]
rs9977212	1.00[EUR][1000 genomes]
rs9978403	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9978934	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9979935	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9980578	1.00[EUR][1000 genomes]
rs9982658	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs9983752	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9984711	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9984720	1.00[CEU][hapmap]
rs9984724	1.00[CEU][hapmap]

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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45080200-45089800	Weak transcription	Aorta	Aorta
2	chr21:45080600-45122400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr21:45080800-45085400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr21:45080800-45085600	Weak transcription	Right Ventricle	heart
5	chr21:45080800-45085600	Weak transcription	Stomach Mucosa	stomach
6	chr21:45080800-45087000	Weak transcription	Osteobl	bone
7	chr21:45080800-45089200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:45080800-45089400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr21:45080800-45092000	Weak transcription	Esophagus	oesophagus
10	chr21:45080800-45094600	Weak transcription	NHLF	lung
11	chr21:45080800-45094800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr21:45080800-45094800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr21:45080800-45096200	Weak transcription	Psoas Muscle	Psoas
14	chr21:45080800-45121800	Weak transcription	Fetal Heart	heart
15	chr21:45080800-45122600	Weak transcription	Small Intestine	intestine
16	chr21:45081000-45089800	Weak transcription	NH-A	brain
17	chr21:45081200-45085600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr21:45081200-45085800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr21:45081200-45085800	Weak transcription	Colon Smooth Muscle	Colon
20	chr21:45081200-45089200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr21:45081200-45096400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr21:45081400-45085600	Weak transcription	Liver	Liver
23	chr21:45081400-45085600	Weak transcription	Fetal Lung	lung
24	chr21:45081400-45085600	Strong transcription	Fetal Stomach	stomach
25	chr21:45081400-45086000	Strong transcription	Fetal Muscle Leg	muscle
26	chr21:45081400-45086200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr21:45081400-45086200	Strong transcription	Fetal Intestine Small	intestine
28	chr21:45081400-45089800	Weak transcription	NHDF-Ad	bronchial
29	chr21:45081600-45085800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr21:45081600-45086400	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr21:45081600-45086400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr21:45081600-45086400	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr21:45081600-45086400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr21:45081600-45086400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr21:45081600-45086400	Strong transcription	Fetal Intestine Large	intestine
36	chr21:45081600-45086400	Strong transcription	Stomach Smooth Muscle	stomach
37	chr21:45081600-45086600	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr21:45081600-45087200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr21:45081600-45087600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr21:45081600-45093800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr21:45081800-45085800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr21:45081800-45086400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr21:45081800-45086400	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr21:45081800-45087200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr21:45081800-45087400	Strong transcription	Fetal Thymus	thymus
46	chr21:45081800-45087600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr21:45082000-45085200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr21:45082000-45086400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
49	chr21:45082000-45086400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr21:45082000-45101800	Weak transcription	Fetal Kidney	kidney

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