Variant report

Variant	rs72598505
Chromosome Location	chr7:27755172-27755173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27702223..27704529-chr7:27754263..27757041,2	K562	blood:
2	chr7:27754406..27757331-chr7:27767738..27770016,2	K562	blood:
3	chr7:27754519..27756508-chr7:27757557..27759836,2	K562	blood:
4	chr7:27754780..27756546-chr7:27757578..27760197,2	MCF-7	breast:
5	chr7:27737615..27739453-chr7:27754350..27756193,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106049	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10155851	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10225487	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10267854	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10277437	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10486559	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10951184	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12666082	0.87[EUR][1000 genomes]
rs16874364	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17150563	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17155702	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2041021	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2051830	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2074579	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2074769	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2107413	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2108309	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2158388	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2237339	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2237340	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2237341	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2285931	0.83[EUR][1000 genomes]
rs2299106	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2391488	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3779473	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4719907	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4719908	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4722741	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57932688	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58314651	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58857361	0.82[EUR][1000 genomes]
rs62449629	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62449639	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62449640	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62454806	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62454945	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6462048	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6462049	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6462052	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6462053	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6944251	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6944913	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6971813	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6972821	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7784038	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7801301	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7803019	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7803227	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7809735	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27751200-27756800	Enhancers	HepG2	liver
2	chr7:27751400-27755600	Enhancers	Fetal Intestine Large	intestine
3	chr7:27751400-27756400	Enhancers	Fetal Intestine Small	intestine
4	chr7:27753600-27755200	Enhancers	Duodenum Mucosa	Duodenum
5	chr7:27753800-27755200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:27753800-27755400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:27754000-27755400	Enhancers	Osteobl	bone
8	chr7:27754000-27756600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:27754200-27755200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:27754200-27755200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:27754200-27755200	Enhancers	NH-A	brain
12	chr7:27754200-27755600	Enhancers	Stomach Mucosa	stomach
13	chr7:27754400-27755200	Enhancers	Brain Angular Gyrus	brain
14	chr7:27754400-27755200	Enhancers	HMEC	breast
15	chr7:27754400-27755400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:27754400-27755800	Enhancers	Brain Hippocampus Middle	brain
17	chr7:27754600-27755600	Enhancers	HUVEC	blood vessel
18	chr7:27754800-27755200	Enhancers	Brain Cingulate Gyrus	brain
19	chr7:27754800-27758800	Weak transcription	Gastric	stomach
20	chr7:27755000-27756000	Enhancers	Small Intestine	intestine
21	chr7:27755000-27756400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:27755000-27756600	Weak transcription	Brain Substantia Nigra	brain
23	chr7:27755000-27757800	Weak transcription	Fetal Lung	lung

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