Variant report

Variant	rs9985020
Chromosome Location	chr21:45311755-45311756
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45311265..45313637-chr21:45328494..45330243,2	K562	blood:
2	chr21:45307015..45310444-chr21:45311677..45314672,3	MCF-7	breast:
3	chr21:45299261..45307297-chr21:45308219..45314197,17	K562	blood:
4	chr21:45311589..45314501-chr21:45483569..45485379,2	MCF-7	breast:
5	chr21:45282739..45287781-chr21:45311516..45318089,9	K562	blood:

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10084623	0.86[MKK][hapmap]
rs28678339	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9974060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9976254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9977435	1.00[AMR][1000 genomes]
rs9980728	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs9981559	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9981944	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9984258	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45287400-45330200	Weak transcription	Fetal Kidney	kidney
2	chr21:45288200-45324200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr21:45298400-45312600	Weak transcription	Aorta	Aorta
4	chr21:45298600-45312800	Weak transcription	Primary B cells from cord blood	blood
5	chr21:45300600-45316400	Weak transcription	A549	lung
6	chr21:45300800-45312200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr21:45300800-45312800	Weak transcription	Psoas Muscle	Psoas
8	chr21:45300800-45312800	Weak transcription	Osteobl	bone
9	chr21:45300800-45313200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr21:45301000-45328400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr21:45301400-45312000	Weak transcription	HSMMtube	muscle
12	chr21:45301400-45313400	Weak transcription	HSMM	muscle
13	chr21:45301400-45326000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr21:45303400-45313400	Weak transcription	Thymus	Thymus
15	chr21:45303400-45319000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr21:45304000-45313800	Weak transcription	NHLF	lung
17	chr21:45304400-45312600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr21:45304400-45313000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr21:45304800-45312600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr21:45304800-45322200	Weak transcription	Hela-S3	cervix
21	chr21:45304800-45323200	Weak transcription	Colonic Mucosa	Colon
22	chr21:45305000-45312600	Weak transcription	HUVEC	blood vessel
23	chr21:45305000-45313400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr21:45305000-45313800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr21:45305000-45322800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr21:45305000-45328000	Weak transcription	NHEK	skin
27	chr21:45305000-45332600	Weak transcription	Colon Smooth Muscle	Colon
28	chr21:45305200-45312200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr21:45305200-45312200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr21:45305200-45312200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr21:45305200-45312600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr21:45305200-45312800	Weak transcription	Spleen	Spleen
33	chr21:45305200-45313400	Weak transcription	Ovary	ovary
34	chr21:45305200-45319400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr21:45305200-45323000	Weak transcription	Fetal Heart	heart
36	chr21:45305200-45323600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr21:45305200-45327600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr21:45305800-45312400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr21:45305800-45312600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr21:45305800-45312600	Weak transcription	Lung	lung
41	chr21:45305800-45312600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr21:45305800-45312800	Weak transcription	Gastric	stomach
43	chr21:45305800-45312800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr21:45305800-45313600	Weak transcription	Fetal Lung	lung
45	chr21:45305800-45320200	Weak transcription	Brain Anterior Caudate	brain
46	chr21:45305800-45323000	Weak transcription	Brain Angular Gyrus	brain
47	chr21:45306000-45312400	Weak transcription	Stomach Mucosa	stomach
48	chr21:45306000-45312400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr21:45306000-45312600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr21:45306000-45312600	Weak transcription	Right Ventricle	heart

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