Variant report

Variant	rs60216010
Chromosome Location	chr21:45303881-45303882
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: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	chr21:45302972..45304906-chr21:45322231..45323923,2	MCF-7	breast:
2	chr21:45303695..45304459-chr21:45359035..45359612,2	MCF-7	breast:
3	chr21:45303087..45305669-chr21:45316134..45318832,3	K562	blood:
4	chr21:45303469..45305913-chr21:45316243..45318902,2	K562	blood:
5	chr21:45302842..45306641-chr21:45335649..45338345,3	K562	blood:
6	chr21:45209323..45211520-chr21:45302577..45304515,3	K562	blood:
7	chr21:45283616..45286882-chr21:45299913..45305661,6	MCF-7	breast:
8	chr21:45302997..45306712-chr21:45430942..45432762,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000160214	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11700575	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2838433	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2838434	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3788075	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4819337	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4819338	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819339	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4819341	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55939443	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58565118	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59355960	0.89[AMR][1000 genomes]
rs60316193	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7278539	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73226931	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9647250	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9976132	0.80[EUR][1000 genomes];0.83[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	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	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
4	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
5	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

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45287000-45304200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr21:45287400-45330200	Weak transcription	Fetal Kidney	kidney
3	chr21:45287600-45307200	Weak transcription	Fetal Brain Male	brain
4	chr21:45288200-45324200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr21:45290800-45304200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr21:45293000-45304200	Weak transcription	Fetal Lung	lung
7	chr21:45295600-45304200	Strong transcription	Fetal Stomach	stomach
8	chr21:45296400-45304200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:45297000-45304200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr21:45298400-45304200	Weak transcription	Brain Germinal Matrix	brain
11	chr21:45298400-45304200	Weak transcription	Fetal Brain Female	brain
12	chr21:45298400-45306000	Enhancers	Adipose Nuclei	Adipose
13	chr21:45298400-45312600	Weak transcription	Aorta	Aorta
14	chr21:45298600-45312800	Weak transcription	Primary B cells from cord blood	blood
15	chr21:45299600-45304200	Genic enhancers	Fetal Intestine Small	intestine
16	chr21:45300000-45304200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr21:45300400-45304200	Weak transcription	Ovary	ovary
18	chr21:45300600-45304000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr21:45300600-45304200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr21:45300600-45304200	Weak transcription	Lung	lung
21	chr21:45300600-45304200	Weak transcription	NH-A	brain
22	chr21:45300600-45304200	Weak transcription	NHEK	skin
23	chr21:45300600-45316400	Weak transcription	A549	lung
24	chr21:45300800-45304000	Weak transcription	HUVEC	blood vessel
25	chr21:45300800-45304200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr21:45300800-45304200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr21:45300800-45304200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr21:45300800-45304200	Weak transcription	HMEC	breast
29	chr21:45300800-45304400	Weak transcription	Brain Angular Gyrus	brain
30	chr21:45300800-45304400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr21:45300800-45312200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr21:45300800-45312800	Weak transcription	Psoas Muscle	Psoas
33	chr21:45300800-45312800	Weak transcription	Osteobl	bone
34	chr21:45300800-45313200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr21:45301000-45304200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr21:45301000-45304200	Weak transcription	Colon Smooth Muscle	Colon
37	chr21:45301000-45328400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr21:45301200-45304200	Weak transcription	Brain Hippocampus Middle	brain
39	chr21:45301400-45304000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr21:45301400-45304200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr21:45301400-45304200	Weak transcription	Brain Anterior Caudate	brain
42	chr21:45301400-45304200	Weak transcription	Brain Substantia Nigra	brain
43	chr21:45301400-45304800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr21:45301400-45312000	Weak transcription	HSMMtube	muscle
45	chr21:45301400-45313400	Weak transcription	HSMM	muscle
46	chr21:45301400-45326000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr21:45302000-45304800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr21:45302200-45304200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr21:45302200-45305800	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr21:45302200-45305800	Enhancers	Skeletal Muscle Male	skeletal muscle

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