Variant report

Variant	rs7275501
Chromosome Location	chr21:45443723-45443724
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45443107..45445711-chr21:45516311..45518422,2	K562	blood:
2	chr21:45443004..45445894-chr21:45525431..45527091,3	K562	blood:
3	chr21:45443004..45445894-chr21:45525520..45527091,2	K562	blood:
4	chr21:45430739..45433866-chr21:45436879..45444885,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs2020943	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2071144	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2071145	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2227265	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2838465	0.98[ASN][1000 genomes]
rs2838470	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838479	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2838484	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838487	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2838495	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2838497	0.84[EUR][1000 genomes]
rs28834388	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57812760	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57855582	0.81[ASN][1000 genomes]
rs60503863	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61689295	0.92[EUR][1000 genomes]
rs62226718	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62226719	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62226722	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62226723	0.92[EUR][1000 genomes]
rs62226724	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7282644	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73909115	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8128926	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9284512	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9306175	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9974767	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9975436	1.00[EUR][1000 genomes]
rs9977122	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9977460	0.96[ASN][1000 genomes]
rs9978109	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9978772	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9979931	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9980021	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9982695	1.00[EUR][1000 genomes]
rs9982907	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9983551	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9983596	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9984876	0.98[ASN][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	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1063752	chr21:45406095-45460342	Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45433200-45452600	Weak transcription	Aorta	Aorta
2	chr21:45433600-45444800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr21:45433600-45444800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:45433800-45444800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr21:45433800-45448000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr21:45434000-45444000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr21:45434000-45444600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr21:45434000-45444800	Weak transcription	Placenta	Placenta
9	chr21:45434200-45448800	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr21:45434200-45450800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr21:45434400-45446800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr21:45434400-45451000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr21:45434600-45444800	Weak transcription	Esophagus	oesophagus
14	chr21:45434800-45444800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr21:45434800-45444800	Weak transcription	Fetal Intestine Large	intestine
16	chr21:45434800-45444800	Weak transcription	HSMM	muscle
17	chr21:45434800-45445000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr21:45434800-45447200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr21:45434800-45447400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr21:45435000-45444000	Weak transcription	NHEK	skin
21	chr21:45435000-45444600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr21:45435000-45444800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr21:45435000-45450200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr21:45435200-45445200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr21:45435400-45444200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr21:45435800-45444200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr21:45436400-45444200	Weak transcription	Osteobl	bone
28	chr21:45436400-45444800	Weak transcription	HMEC	breast
29	chr21:45436600-45444800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr21:45436800-45446800	Enhancers	Primary T cells fromperipheralblood	blood
31	chr21:45437200-45444200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr21:45437200-45444800	Weak transcription	A549	lung
33	chr21:45437600-45444600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr21:45437800-45444000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr21:45437800-45444600	Weak transcription	Adipose Nuclei	Adipose
36	chr21:45438200-45444600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr21:45438200-45451400	Weak transcription	Hela-S3	cervix
38	chr21:45438400-45444400	Weak transcription	Stomach Mucosa	stomach
39	chr21:45439000-45444800	Weak transcription	Gastric	stomach
40	chr21:45439200-45444800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr21:45439400-45444000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr21:45439400-45444200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr21:45439400-45444600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr21:45439400-45444800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr21:45439400-45444800	Weak transcription	Fetal Muscle Leg	muscle
46	chr21:45439400-45445000	Weak transcription	Ovary	ovary
47	chr21:45439800-45444800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr21:45439800-45444800	Weak transcription	Pancreas	Pancrea
49	chr21:45439800-45444800	Weak transcription	Right Ventricle	heart
50	chr21:45439800-45444800	Weak transcription	Thymus	Thymus

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