Variant report

Variant	rs72738588
Chromosome Location	chr1:192980484-192980485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:192979947..192982887-chr1:192983438..192986734,3	K562	blood:
2	chr1:192976396..192978239-chr1:192979297..192981493,2	MCF-7	breast:
3	chr1:192973548..192977447-chr1:192979869..192983384,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10489686	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10801170	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12118724	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12123511	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12123970	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12129832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12132305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12134846	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12136893	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2887640	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35221108	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56022114	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6670264	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72738589	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72738599	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7544830	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv999499	chr1:192909529-192998421	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv535252	chr1:192909529-192998421	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv998429	chr1:192961698-193050515	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv498699	chr1:192970436-192993624	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv3966	chr1:192976457-193004886	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv947359	chr1:192980236-192987689	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192953600-192982400	Weak transcription	HSMMtube	muscle
2	chr1:192954200-192991200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:192955800-192990600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:192956200-192988400	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:192961200-192983600	Weak transcription	Hela-S3	cervix
6	chr1:192962600-192986400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:192963000-192982000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:192963600-192983000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:192963800-192981400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:192963800-192981600	Weak transcription	NHLF	lung
11	chr1:192963800-192982000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:192963800-192982200	Weak transcription	Aorta	Aorta
13	chr1:192963800-192983000	Weak transcription	NH-A	brain
14	chr1:192963800-192990000	Weak transcription	HMEC	breast
15	chr1:192963800-192994400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:192963800-192996200	Weak transcription	Fetal Lung	lung
17	chr1:192963800-193012400	Weak transcription	NHEK	skin
18	chr1:192963800-193019600	Weak transcription	Ovary	ovary
19	chr1:192964000-192981000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:192964000-192981800	Weak transcription	HSMM	muscle
21	chr1:192964000-192983000	Weak transcription	Fetal Thymus	thymus
22	chr1:192964000-192984600	Weak transcription	Primary B cells from cord blood	blood
23	chr1:192964000-192990400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:192964000-192994400	Weak transcription	Left Ventricle	heart
25	chr1:192965000-192990800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:192966200-192994200	Weak transcription	Primary T cells from cord blood	blood
27	chr1:192966400-192985200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr1:192967200-192983600	Weak transcription	HUVEC	blood vessel
29	chr1:192967600-192982800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:192967600-192993000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:192968000-192981600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:192968000-192984600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr1:192968000-192992000	Weak transcription	Placenta	Placenta
34	chr1:192968000-193009400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:192968000-193012400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:192968000-193019400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:192972400-192982000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:192972800-192981800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:192972800-192983200	Weak transcription	K562	blood
40	chr1:192972800-192991200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr1:192972800-192991200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:192973200-192992800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:192975200-192981600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:192975200-192985000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:192975400-192982800	Weak transcription	Psoas Muscle	Psoas
46	chr1:192975400-192991200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:192975600-192981600	Enhancers	Fetal Intestine Large	intestine
48	chr1:192977000-192982400	Enhancers	Fetal Intestine Small	intestine
49	chr1:192977200-192981000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:192977400-192981800	Weak transcription	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links