Variant report

Variant	rs72729930
Chromosome Location	chr1:97927565-97927566
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:97921406..97923933-chr1:97926156..97929107,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11811087	0.85[EUR][1000 genomes]
rs11811436	0.84[EUR][1000 genomes]
rs12096724	0.83[EUR][1000 genomes]
rs34044808	0.85[EUR][1000 genomes]
rs55865801	0.81[EUR][1000 genomes]
rs55931309	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56064273	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61788022	0.87[EUR][1000 genomes]
rs61788023	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61789177	0.87[EUR][1000 genomes]
rs61789178	0.86[EUR][1000 genomes]
rs61789180	0.84[EUR][1000 genomes]
rs6685976	0.80[EUR][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	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	nsv533039	chr1:97665736-98343102	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv530049	chr1:97883261-98384614	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv830703	chr1:97907708-98101144	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97861600-97930000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:97872600-98014600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:97898800-97960000	Weak transcription	Left Ventricle	heart
4	chr1:97902200-97930000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:97904200-97946800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:97909200-97932200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:97909200-97940600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:97910000-97954000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:97911200-97940600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:97911600-97930200	Weak transcription	HSMM	muscle
11	chr1:97913200-97932600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:97913800-97930000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:97913800-97930000	Weak transcription	Lung	lung
14	chr1:97915800-97930000	Weak transcription	Liver	Liver
15	chr1:97915800-97930000	Weak transcription	Dnd41	blood
16	chr1:97915800-97930200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:97917600-97932000	Weak transcription	Right Ventricle	heart
18	chr1:97926200-97930000	Weak transcription	Primary T cells from cord blood	blood
19	chr1:97926200-97930600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr1:97926400-97928000	Weak transcription	Ovary	ovary
21	chr1:97926400-97928200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:97926400-97930000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:97926400-97930000	Weak transcription	Esophagus	oesophagus
24	chr1:97926600-97928200	Enhancers	GM12878-XiMat	blood
25	chr1:97926600-97928400	Enhancers	Primary B cells from cord blood	blood
26	chr1:97926800-97928200	Enhancers	Primary B cells from peripheral blood	blood
27	chr1:97926800-97928800	Enhancers	Brain Hippocampus Middle	brain
28	chr1:97927200-97928200	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr1:97927400-97927600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr1:97927400-97928200	Enhancers	Brain Cingulate Gyrus	brain
31	chr1:97927400-97928200	Enhancers	Brain Substantia Nigra	brain
32	chr1:97927400-97928200	Enhancers	Fetal Heart	heart
33	chr1:97927400-97928800	Enhancers	Brain Angular Gyrus	brain

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