Variant report

Variant	rs7275972
Chromosome Location	chr21:45290796-45290797
allele	C/T
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	chr1:9692688..9694194-chr21:45288971..45291909,2	K562	blood:
2	chr21:45288706..45291944-chr21:45293288..45295731,3	MCF-7	breast:
3	chr21:45289119..45291947-chr21:45336176..45338497,2	K562	blood:
4	chr21:45262417..45264171-chr21:45290181..45291751,2	K562	blood:
5	chr21:45289974..45292578-chr21:45344758..45347739,2	K562	blood:
6	chr21:45289119..45291555-chr21:45336176..45338160,3	K562	blood:
7	chr21:45283392..45285849-chr21:45288020..45292209,4	MCF-7	breast:
8	chr21:45288734..45291186-chr21:45298713..45301345,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1005192	0.81[ASN][1000 genomes]
rs1007439	0.96[ASN][1000 genomes]
rs10432972	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10775683	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12397628	0.92[ASN][1000 genomes]
rs13052200	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1573474	1.00[ASN][1000 genomes]
rs2838423	0.85[ASN][1000 genomes]
rs2838424	0.85[ASN][1000 genomes]
rs2838435	0.81[ASN][1000 genomes]
rs2838436	0.81[ASN][1000 genomes]
rs3827246	0.81[ASN][1000 genomes]
rs4818871	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4819321	0.92[ASN][1000 genomes]
rs4819322	0.92[ASN][1000 genomes]
rs4819323	0.92[ASN][1000 genomes]
rs4819324	0.92[ASN][1000 genomes]
rs4819327	0.92[ASN][1000 genomes]
rs4819329	0.92[ASN][1000 genomes]
rs4819345	0.81[ASN][1000 genomes]
rs7276578	0.81[ASN][1000 genomes]
rs762404	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8127341	0.81[ASN][1000 genomes]
rs8130695	0.92[ASN][1000 genomes]
rs8133789	0.98[ASN][1000 genomes]
rs9306163	0.96[ASN][1000 genomes]
rs9979796	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	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
5	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1066284	chr21:45249549-45343314	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv3538	chr21:45267674-45297159	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45286000-45300400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr21:45286600-45292600	Weak transcription	Aorta	Aorta
3	chr21:45286800-45293800	Weak transcription	HSMMtube	muscle
4	chr21:45286800-45299800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr21:45287000-45290800	Weak transcription	Primary B cells from cord blood	blood
6	chr21:45287000-45293800	Weak transcription	HSMM	muscle
7	chr21:45287000-45297600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr21:45287000-45299800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:45287000-45304200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr21:45287200-45292600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr21:45287200-45292600	Weak transcription	Ovary	ovary
12	chr21:45287200-45293000	Weak transcription	Osteobl	bone
13	chr21:45287200-45295200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr21:45287200-45299400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr21:45287200-45299600	Weak transcription	NHDF-Ad	bronchial
16	chr21:45287200-45300000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr21:45287400-45290800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr21:45287400-45290800	Weak transcription	Fetal Lung	lung
19	chr21:45287400-45292600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr21:45287400-45292600	Weak transcription	Brain Angular Gyrus	brain
21	chr21:45287400-45292600	Weak transcription	Brain Germinal Matrix	brain
22	chr21:45287400-45293600	Strong transcription	Fetal Stomach	stomach
23	chr21:45287400-45296200	Weak transcription	Fetal Heart	heart
24	chr21:45287400-45297600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr21:45287400-45299400	Weak transcription	Right Atrium	heart
26	chr21:45287400-45299600	Weak transcription	Brain Substantia Nigra	brain
27	chr21:45287400-45299800	Weak transcription	Hela-S3	cervix
28	chr21:45287400-45300200	Weak transcription	HUVEC	blood vessel
29	chr21:45287400-45300200	Weak transcription	NH-A	brain
30	chr21:45287400-45330200	Weak transcription	Fetal Kidney	kidney
31	chr21:45287600-45291200	Weak transcription	Small Intestine	intestine
32	chr21:45287600-45291600	Strong transcription	Fetal Thymus	thymus
33	chr21:45287600-45292600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr21:45287600-45292600	Weak transcription	Lung	lung
35	chr21:45287600-45292600	Weak transcription	Spleen	Spleen
36	chr21:45287600-45292800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr21:45287600-45292800	Weak transcription	Adipose Nuclei	Adipose
38	chr21:45287600-45293400	Strong transcription	Fetal Muscle Leg	muscle
39	chr21:45287600-45294200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr21:45287600-45299400	Weak transcription	Brain Anterior Caudate	brain
41	chr21:45287600-45299400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr21:45287600-45300000	Weak transcription	A549	lung
43	chr21:45287600-45307200	Weak transcription	Fetal Brain Male	brain
44	chr21:45287800-45293600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr21:45288200-45290800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr21:45288200-45292400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr21:45288200-45292600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr21:45288200-45300000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr21:45288200-45300200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr21:45288200-45324200	Weak transcription	Rectal Smooth Muscle	rectum

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