Variant report

Variant	rs9984964
Chromosome Location	chr21:46559406-46559407
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46492190..46501097-chr21:46553481..46562048,38	K562	blood:
2	chr21:46557269..46559639-chr21:46569704..46571719,2	K562	blood:
3	chr21:46557040..46559507-chr21:46738434..46740061,2	MCF-7	breast:
4	chr21:46558139..46559799-chr21:46568659..46571204,2	K562	blood:
5	chr21:46558828..46560787-chr21:46708132..46710306,2	K562	blood:
6	chr21:46558032..46564399-chr21:46706240..46711834,9	MCF-7	breast:
7	chr21:46554988..46557128-chr21:46559277..46561746,2	MCF-7	breast:
8	chr21:46350869..46353170-chr21:46557195..46559661,2	MCF-7	breast:
9	chr21:46554334..46556297-chr21:46558986..46561697,3	K562	blood:
10	chr21:46556578..46559478-chr21:46562183..46565396,3	MCF-7	breast:
11	chr21:46557748..46561718-chr21:46739963..46743183,3	MCF-7	breast:
12	chr21:46492248..46501057-chr21:46545477..46562980,48	K562	blood:

No data

Variant related genes	Relation type
ENSG00000186866	Chromatin interaction
ENSG00000215447	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000160255	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs28410968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28637180	1.00[AMR][1000 genomes]
rs28656992	1.00[AMR][1000 genomes]
rs9976412	1.00[AMR][1000 genomes]
rs9979047	1.00[YRI][hapmap]
rs9981906	1.00[AMR][1000 genomes]
rs9984486	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46532600-46570600	Weak transcription	Dnd41	blood
2	chr21:46544200-46560400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr21:46548600-46571600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr21:46549800-46567600	Weak transcription	Gastric	stomach
5	chr21:46550000-46567800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr21:46550400-46571200	Weak transcription	Brain Germinal Matrix	brain
7	chr21:46550800-46563600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr21:46551000-46562400	Weak transcription	HMEC	breast
9	chr21:46551400-46567400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr21:46551600-46562400	Weak transcription	Brain Angular Gyrus	brain
11	chr21:46551600-46562600	Genic enhancers	HSMM	muscle
12	chr21:46551800-46565400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr21:46553400-46561600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr21:46553400-46568600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr21:46553400-46570600	Weak transcription	Esophagus	oesophagus
16	chr21:46553400-46574600	Weak transcription	Fetal Heart	heart
17	chr21:46553600-46562600	Weak transcription	Placenta	Placenta
18	chr21:46553600-46563000	Weak transcription	Lung	lung
19	chr21:46553800-46561800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr21:46554800-46564600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr21:46555200-46574600	Weak transcription	Right Atrium	heart
22	chr21:46555400-46562400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr21:46555400-46562400	Weak transcription	Left Ventricle	heart
24	chr21:46555400-46562400	Weak transcription	Right Ventricle	heart
25	chr21:46555600-46571600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr21:46555800-46562600	Weak transcription	Primary T cells from cord blood	blood
27	chr21:46555800-46570800	Weak transcription	Fetal Lung	lung
28	chr21:46555800-46571600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr21:46556000-46560200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr21:46556200-46562200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr21:46556400-46560200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr21:46556400-46560200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr21:46556400-46562800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr21:46556600-46564600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr21:46556600-46581000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr21:46556800-46562800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr21:46557000-46559600	Genic enhancers	Hela-S3	cervix
38	chr21:46557000-46561800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr21:46557000-46562400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr21:46557000-46571400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr21:46557000-46604800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr21:46557200-46591800	Weak transcription	HUVEC	blood vessel
43	chr21:46557400-46560400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr21:46557400-46562000	Weak transcription	Osteobl	bone
45	chr21:46557400-46562400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr21:46557400-46562800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr21:46557400-46571600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr21:46557400-46577800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr21:46557600-46560200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr21:46557600-46560200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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