Variant report

Variant	rs66506615
Chromosome Location	chr21:46280140-46280141
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46267198..46269183-chr21:46277821..46280408,2	K562	blood:
2	chr21:46236704..46239538-chr21:46278622..46280942,2	K562	blood:
3	chr21:46272341..46274057-chr21:46278759..46281350,2	MCF-7	breast:
4	chr21:46278491..46281253-chr21:46282131..46284724,2	K562	blood:
5	chr21:46218496..46222154-chr21:46279503..46283710,3	MCF-7	breast:
6	chr21:46278793..46281032-chr21:46359713..46361319,2	K562	blood:

Variant related genes	Relation type
ENSG00000183250	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000184900	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13051307	0.83[AMR][1000 genomes]
rs13051895	0.83[AMR][1000 genomes]
rs17004710	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2282111	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2282116	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34037159	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34449239	0.82[ASN][1000 genomes]
rs34897870	0.82[ASN][1000 genomes]
rs35101060	0.82[EUR][1000 genomes]
rs3753015	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4818738	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4818982	0.82[ASN][1000 genomes]
rs4818983	0.82[ASN][1000 genomes]
rs55831723	0.89[EUR][1000 genomes]
rs57064200	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs873317	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv913964	chr21:46223847-46298869	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv913962	chr21:46223847-46321172	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv913965	chr21:46223847-46321172	Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1058550	chr21:46227163-46317934	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv913968	chr21:46249752-46301008	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1060233	chr21:46254075-46323401	Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46267400-46285200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr21:46267400-46286600	Strong transcription	Fetal Stomach	stomach
3	chr21:46267600-46280600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr21:46267600-46287000	Strong transcription	Brain Germinal Matrix	brain
5	chr21:46268000-46281200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr21:46268200-46281200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr21:46268200-46285800	Strong transcription	Fetal Muscle Leg	muscle
8	chr21:46268600-46280600	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr21:46268600-46280600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr21:46268600-46281800	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr21:46268600-46281800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr21:46268600-46282000	Strong transcription	Fetal Brain Female	brain
13	chr21:46268600-46285200	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr21:46268600-46285200	Strong transcription	Osteobl	bone
15	chr21:46268600-46285400	Strong transcription	Thymus	Thymus
16	chr21:46268600-46285400	Strong transcription	HUVEC	blood vessel
17	chr21:46268600-46285800	Strong transcription	Liver	Liver
18	chr21:46268600-46286000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr21:46268600-46286600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr21:46268800-46285200	Strong transcription	Dnd41	blood
21	chr21:46268800-46285200	Strong transcription	NHLF	lung
22	chr21:46268800-46285400	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr21:46268800-46286600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr21:46268800-46286600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr21:46268800-46286600	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr21:46269400-46280800	Strong transcription	Hela-S3	cervix
27	chr21:46269400-46285800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr21:46269600-46281600	Strong transcription	Pancreas	Pancrea
29	chr21:46271400-46286800	Weak transcription	Psoas Muscle	Psoas
30	chr21:46272000-46281400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr21:46272400-46283800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr21:46272600-46285200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr21:46272800-46281600	Strong transcription	HepG2	liver
34	chr21:46273000-46285000	Strong transcription	Duodenum Mucosa	Duodenum
35	chr21:46273000-46286600	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr21:46273400-46285600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr21:46273600-46281600	Strong transcription	Ovary	ovary
38	chr21:46273800-46282200	Strong transcription	Rectal Smooth Muscle	rectum
39	chr21:46274000-46282000	Strong transcription	Brain Anterior Caudate	brain
40	chr21:46274000-46285000	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr21:46274200-46282600	Strong transcription	Colonic Mucosa	Colon
42	chr21:46274200-46284800	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr21:46274200-46285200	Strong transcription	Fetal Intestine Small	intestine
44	chr21:46274400-46284600	Strong transcription	Fetal Intestine Large	intestine
45	chr21:46274400-46285400	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr21:46274800-46285000	Weak transcription	Small Intestine	intestine
47	chr21:46275000-46282600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr21:46275200-46281200	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr21:46275200-46281600	Weak transcription	Fetal Heart	heart
50	chr21:46275200-46281600	Strong transcription	Fetal Muscle Trunk	muscle

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