Variant report

Variant	rs72792284
Chromosome Location	chr10:49544137-49544138
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	chr10:49544127..49546033-chr10:49548139..49550800,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs17697837	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17697885	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17770615	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2141515	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2289806	0.88[ASN][1000 genomes]
rs2889612	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34278434	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41306926	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55710197	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55914834	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55923567	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56037570	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56103304	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56195836	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56278337	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56361423	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56809322	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57775594	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57915819	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59797355	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60449431	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66738605	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66864000	0.87[EUR][1000 genomes]
rs66962508	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67071575	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67646014	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67967483	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72792260	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72792262	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72792264	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72792269	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792272	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792274	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792290	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792295	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794356	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794358	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794369	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794372	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794376	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794378	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72796303	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72796304	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72796308	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv895368	chr10:49381635-49551560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
6	nsv6587	chr10:49526329-49571804	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49516400-49547200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr10:49516400-49559600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr10:49517800-49544600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr10:49520200-49549800	Weak transcription	HUVEC	blood vessel
5	chr10:49522800-49550800	Weak transcription	Small Intestine	intestine
6	chr10:49525800-49551800	Weak transcription	Adipose Nuclei	Adipose
7	chr10:49526200-49552000	Weak transcription	NH-A	brain
8	chr10:49529000-49550800	Weak transcription	K562	blood
9	chr10:49530800-49554600	Weak transcription	Fetal Brain Male	brain
10	chr10:49535400-49548200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr10:49536800-49545200	Weak transcription	Brain Angular Gyrus	brain
12	chr10:49538600-49545400	Weak transcription	Hela-S3	cervix
13	chr10:49538600-49551400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr10:49538800-49544600	Weak transcription	Spleen	Spleen
15	chr10:49538800-49546600	Weak transcription	HSMMtube	muscle
16	chr10:49538800-49551200	Weak transcription	Brain Substantia Nigra	brain
17	chr10:49538800-49551400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr10:49539000-49551800	Weak transcription	NHLF	lung
19	chr10:49539200-49555000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:49539400-49548200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr10:49539600-49553400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr10:49539800-49549800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr10:49540400-49551200	Weak transcription	Ovary	ovary
24	chr10:49540400-49554000	Weak transcription	Pancreas	Pancrea
25	chr10:49540600-49549600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr10:49540600-49551800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr10:49540800-49544400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr10:49540800-49547800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr10:49540800-49551600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr10:49541000-49544600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr10:49541000-49545000	Weak transcription	Stomach Mucosa	stomach
32	chr10:49541000-49549600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr10:49541000-49551800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr10:49541000-49551800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr10:49541000-49554000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr10:49541200-49545400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr10:49541200-49546000	Weak transcription	Fetal Kidney	kidney
38	chr10:49541200-49551000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr10:49541200-49559400	Weak transcription	Fetal Lung	lung
40	chr10:49541400-49553800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr10:49541600-49544400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr10:49541600-49544800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr10:49541600-49549600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr10:49542000-49548200	Weak transcription	A549	lung
45	chr10:49542000-49554000	Weak transcription	Fetal Thymus	thymus
46	chr10:49542200-49546000	Weak transcription	Fetal Intestine Large	intestine
47	chr10:49542400-49545800	Weak transcription	HMEC	breast
48	chr10:49542400-49546600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr10:49542600-49544400	Weak transcription	NHEK	skin
50	chr10:49542600-49544800	Weak transcription	Thymus	Thymus

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