Variant report

Variant	rs73759369
Chromosome Location	chr5:59966812-59966813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:59965486..59967989-chr5:59970995..59975003,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs55871236	0.84[AFR][1000 genomes]
rs56147294	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56376821	0.83[AFR][1000 genomes]
rs56814521	1.00[AMR][1000 genomes]
rs57521420	0.83[AFR][1000 genomes]
rs59913390	1.00[AMR][1000 genomes]
rs6891519	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6896976	0.80[AFR][1000 genomes]
rs73759329	1.00[AMR][1000 genomes]
rs73759337	1.00[AMR][1000 genomes]
rs73759359	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759360	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759361	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759362	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759368	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759411	0.83[AFR][1000 genomes]
rs73759415	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv492277	chr5:59905195-60180834	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59926400-59967800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:59933600-59981000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:59943400-59977000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:59954000-59980200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:59954600-59969200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:59956800-59981800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr5:59957000-59977000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:59960000-59968600	Weak transcription	GM12878-XiMat	blood
9	chr5:59960000-59970600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:59960400-59968600	Weak transcription	A549	lung
11	chr5:59962400-59970800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:59962600-59969000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:59962600-59969200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:59962600-59969400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:59962600-59970200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:59962600-59977000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:59962600-59980000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:59962600-59980800	Weak transcription	Fetal Thymus	thymus
19	chr5:59962600-59981000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:59962600-59981600	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:59962600-59985600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr5:59962600-59986800	Weak transcription	Fetal Stomach	stomach
23	chr5:59962600-59990000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:59962800-59968600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:59962800-59974000	Weak transcription	Dnd41	blood
26	chr5:59962800-59976600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:59962800-59978600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr5:59962800-59978800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:59964600-59974600	Enhancers	Fetal Intestine Large	intestine
30	chr5:59964800-59974200	Enhancers	Fetal Intestine Small	intestine
31	chr5:59965000-59968000	Enhancers	Duodenum Mucosa	Duodenum
32	chr5:59965400-59967400	Weak transcription	Liver	Liver
33	chr5:59965600-59969000	Weak transcription	Colonic Mucosa	Colon
34	chr5:59966000-59988800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:59966200-59970400	Enhancers	Stomach Mucosa	stomach
36	chr5:59966400-59967000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr5:59966400-59968600	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr5:59966600-59967400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr5:59966600-59967400	Enhancers	Gastric	stomach
40	chr5:59966600-59968000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:59966600-59968000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:59966600-59968000	Enhancers	Pancreas	Pancrea
43	chr5:59966600-59968000	Enhancers	Small Intestine	intestine
44	chr5:59966600-59968000	Strong transcription	Thymus	Thymus
45	chr5:59966800-59967200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr5:59966800-59967200	Transcr. at gene 5' and 3'	HepG2	liver
47	chr5:59966800-59967600	Weak transcription	Placenta	Placenta

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