Variant report

Variant	rs2822645
Chromosome Location	chr21:15753484-15753485
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:15738236..15741206-chr21:15753262..15755404,2	K562	blood:
2	chr21:15751469..15753501-chr21:15755651..15758117,2	K562	blood:

Variant related genes	Relation type
ENSG00000155304	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17002566	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17002638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17002670	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822641	0.81[ASW][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.95[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822643	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59442083	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60331773	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7275514	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7276997	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7278449	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73339743	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73341927	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73341928	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73892152	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8134289	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064554	chr21:15676222-15809321	Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1061686	chr21:15724570-15765777	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv913403	chr21:15743387-15786271	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr21:15743800-15754600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:15744600-15754600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:15745000-15754600	Weak transcription	Stomach Mucosa	stomach
4	chr21:15745400-15754400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:15746600-15754600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr21:15749600-15754400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr21:15750200-15754400	Weak transcription	Colonic Mucosa	Colon
8	chr21:15750200-15754800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr21:15750400-15754600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:15750400-15754600	Weak transcription	Aorta	Aorta
11	chr21:15750600-15753600	Weak transcription	Fetal Stomach	stomach
12	chr21:15750600-15753600	Weak transcription	Ovary	ovary
13	chr21:15750600-15754400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr21:15750600-15754400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr21:15750600-15754400	Weak transcription	Fetal Kidney	kidney
16	chr21:15750600-15754400	Weak transcription	Placenta	Placenta
17	chr21:15750600-15754400	Weak transcription	Psoas Muscle	Psoas
18	chr21:15750600-15754600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr21:15750600-15754600	Weak transcription	Thymus	Thymus
20	chr21:15750600-15754800	Weak transcription	Esophagus	oesophagus
21	chr21:15750800-15753600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr21:15750800-15753600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr21:15750800-15754400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr21:15750800-15754400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr21:15750800-15754400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr21:15750800-15754400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr21:15750800-15754800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr21:15751000-15753600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr21:15751200-15754400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr21:15751200-15754400	Weak transcription	Fetal Muscle Leg	muscle
31	chr21:15751200-15754400	Weak transcription	Fetal Thymus	thymus
32	chr21:15751200-15754600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr21:15751200-15754600	Weak transcription	Lung	lung
34	chr21:15751200-15754800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr21:15751200-15754800	Weak transcription	Left Ventricle	heart
36	chr21:15751400-15754400	Weak transcription	Fetal Intestine Large	intestine
37	chr21:15751600-15753800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr21:15751800-15754000	Transcr. at gene 5' and 3'	Dnd41	blood
39	chr21:15751800-15754600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr21:15752000-15754600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr21:15752000-15754600	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr21:15752000-15754600	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr21:15752200-15754000	Genic enhancers	HepG2	liver
44	chr21:15752200-15754200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr21:15752600-15754600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr21:15752800-15753800	Flanking Active TSS	Fetal Brain Male	brain
47	chr21:15752800-15754000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr21:15752800-15754000	Flanking Active TSS	HUVEC	blood vessel
49	chr21:15752800-15754400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr21:15752800-15754400	Enhancers	Fetal Intestine Small	intestine

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