Variant report

Variant	rs56283857
Chromosome Location	chr1:97570797-97570798
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	chr1:97569264..97571066-chr1:97574080..97575700,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12069444	1.00[AMR][1000 genomes]
rs290823	1.00[AMR][1000 genomes]
rs55737241	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55890675	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55896709	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56116315	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57607396	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58372929	1.00[AMR][1000 genomes]
rs59996661	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60455988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60480849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61208874	1.00[AMR][1000 genomes]
rs72726671	1.00[EUR][1000 genomes]
rs74104255	1.00[AMR][1000 genomes]
rs74104256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74104257	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74104259	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74104311	1.00[AMR][1000 genomes]
rs74104313	1.00[AMR][1000 genomes]
rs74104319	1.00[AMR][1000 genomes]
rs74104321	1.00[AMR][1000 genomes]
rs74106608	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106609	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106679	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106684	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106701	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv830692	chr1:97501492-97625153	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97538000-97603600	Weak transcription	Psoas Muscle	Psoas
2	chr1:97540400-97575200	Weak transcription	Ovary	ovary
3	chr1:97542400-97584800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:97552600-97574600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr1:97557600-97585000	Weak transcription	Brain Angular Gyrus	brain
6	chr1:97558000-97572200	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:97559800-97570800	Weak transcription	Gastric	stomach
8	chr1:97560400-97573600	Weak transcription	NHDF-Ad	bronchial
9	chr1:97560600-97571000	Weak transcription	NHLF	lung
10	chr1:97560600-97573600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:97560600-97573600	Weak transcription	Hela-S3	cervix
12	chr1:97560600-97573600	Weak transcription	HMEC	breast
13	chr1:97560800-97571400	Weak transcription	Fetal Intestine Large	intestine
14	chr1:97560800-97603600	Weak transcription	Pancreas	Pancrea
15	chr1:97561400-97571400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:97562600-97572000	Weak transcription	Lung	lung
17	chr1:97562600-97586600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:97563200-97571400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:97563200-97572800	Weak transcription	HSMM	muscle
20	chr1:97563600-97594000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:97563600-97619200	Weak transcription	Dnd41	blood
22	chr1:97564200-97583800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:97564200-97632800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:97564600-97577800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:97565400-97603600	Weak transcription	Left Ventricle	heart
26	chr1:97566000-97599400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr1:97568200-97571200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:97569200-97571200	Strong transcription	Primary B cells from cord blood	blood
29	chr1:97569400-97572000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr1:97570200-97570800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:97570200-97570800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:97570200-97572400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:97570400-97571200	Strong transcription	Liver	Liver
34	chr1:97570400-97572200	Strong transcription	Primary T cells from cord blood	blood
35	chr1:97570400-97588400	Weak transcription	Aorta	Aorta
36	chr1:97570600-97572600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:97570600-97603800	Weak transcription	Primary hematopoietic stem cells	blood

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