Variant report

Variant	rs71361333
Chromosome Location	chr18:29258114-29258115
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	chr18:29238110..29240521-chr18:29255688..29258498,2	MCF-7	breast:
2	chr18:29257336..29259422-chr18:29266158..29267928,2	K562	blood:

Variant related genes	Relation type
ENSG00000118276	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12957312	1.00[ASN][1000 genomes]
rs12964359	1.00[ASN][1000 genomes]
rs12967431	1.00[ASN][1000 genomes]
rs12967606	1.00[ASN][1000 genomes]
rs12967642	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1630405	1.00[ASN][1000 genomes]
rs1680645	1.00[ASN][1000 genomes]
rs17661987	1.00[ASN][1000 genomes]
rs17718389	1.00[ASN][1000 genomes]
rs17718513	1.00[ASN][1000 genomes]
rs2230234	1.00[ASN][1000 genomes]
rs34844920	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34959937	1.00[ASN][1000 genomes]
rs35129944	1.00[ASN][1000 genomes]
rs35217404	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35271356	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35703749	1.00[ASN][1000 genomes]
rs501570	1.00[ASN][1000 genomes]
rs616082	1.00[ASN][1000 genomes]
rs6506937	0.89[EUR][1000 genomes]
rs66534107	1.00[ASN][1000 genomes]
rs668996	1.00[ASN][1000 genomes]
rs71361335	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71361336	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71361337	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71361338	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71361339	0.89[EUR][1000 genomes]
rs71361340	0.89[EUR][1000 genomes]
rs71361341	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71361344	1.00[ASN][1000 genomes]
rs71361345	1.00[ASN][1000 genomes]
rs73409433	1.00[ASN][1000 genomes]
rs8083292	1.00[ASN][1000 genomes]
rs8083894	1.00[ASN][1000 genomes]
rs8084382	1.00[ASN][1000 genomes]
rs8084675	1.00[ASN][1000 genomes]
rs9952659	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909519	chr18:29172865-29330214	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1831348	chr18:29205526-29268786	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29253200-29258600	Weak transcription	Osteobl	bone
2	chr18:29253200-29258800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr18:29253200-29262800	Weak transcription	HepG2	liver
4	chr18:29253400-29258600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr18:29253400-29258600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr18:29253400-29258600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr18:29253400-29258800	Weak transcription	Adipose Nuclei	Adipose
8	chr18:29253400-29259400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr18:29253400-29259800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr18:29253400-29260000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:29253600-29258200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr18:29253600-29258200	Weak transcription	NHEK	skin
13	chr18:29253600-29260400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr18:29253600-29262200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:29253600-29264200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr18:29254800-29258800	Enhancers	HUVEC	blood vessel
17	chr18:29255600-29258400	Weak transcription	Fetal Intestine Small	intestine
18	chr18:29255600-29260000	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr18:29256000-29258400	Weak transcription	Stomach Mucosa	stomach
20	chr18:29256200-29258400	Weak transcription	Fetal Intestine Large	intestine
21	chr18:29257200-29260400	Weak transcription	Fetal Brain Female	brain
22	chr18:29257200-29261600	Flanking Active TSS	GM12878-XiMat	blood
23	chr18:29257400-29258400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr18:29257400-29259400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr18:29257400-29259600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr18:29257400-29260400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr18:29257400-29261000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr18:29257600-29258200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr18:29257600-29258200	Enhancers	Primary T cells from cord blood	blood
30	chr18:29257600-29258200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr18:29257600-29258200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr18:29257600-29258200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr18:29257600-29258600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr18:29257600-29259000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr18:29257600-29260800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr18:29257600-29261000	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr18:29257800-29258200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:29257800-29258200	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr18:29257800-29258200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr18:29257800-29258200	Enhancers	Brain Substantia Nigra	brain
41	chr18:29257800-29258200	Enhancers	Fetal Thymus	thymus
42	chr18:29257800-29258800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr18:29257800-29258800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr18:29257800-29258800	Enhancers	Lung	lung
45	chr18:29257800-29259000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr18:29257800-29259200	Enhancers	Hela-S3	cervix
47	chr18:29257800-29259800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr18:29257800-29261000	Enhancers	Gastric	stomach
49	chr18:29257800-29261600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr18:29257800-29261800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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