Variant report

Variant	rs9949056
Chromosome Location	chr18:29255663-29255664
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11664340	1.00[CHB][hapmap]
rs1667273	1.00[CHB][hapmap]
rs16962318	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1791183	1.00[CHB][hapmap]
rs2595371	1.00[CHB][hapmap]
rs2848683	1.00[CHB][hapmap]
rs28552758	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7233900	1.00[CHB][hapmap]
rs7240561	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73954674	0.94[ASN][1000 genomes]
rs73954675	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8084681	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9951594	0.83[AMR][1000 genomes];0.97[EUR][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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29235600-29257800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:29239600-29258000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr18:29244600-29257600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr18:29250200-29258000	Weak transcription	Small Intestine	intestine
5	chr18:29253000-29256200	Enhancers	Primary hematopoietic stem cells	blood
6	chr18:29253000-29257600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr18:29253200-29257800	Weak transcription	Fetal Thymus	thymus
8	chr18:29253200-29258600	Weak transcription	Osteobl	bone
9	chr18:29253200-29258800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr18:29253200-29262800	Weak transcription	HepG2	liver
11	chr18:29253400-29257400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr18:29253400-29257400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr18:29253400-29258600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr18:29253400-29258600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr18:29253400-29258600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr18:29253400-29258800	Weak transcription	Adipose Nuclei	Adipose
17	chr18:29253400-29259400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr18:29253400-29259800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr18:29253400-29260000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr18:29253600-29257800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr18:29253600-29257800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr18:29253600-29257800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr18:29253600-29257800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr18:29253600-29258000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr18:29253600-29258200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr18:29253600-29258200	Weak transcription	NHEK	skin
27	chr18:29253600-29260400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr18:29253600-29262200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:29253600-29264200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr18:29253800-29257400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr18:29253800-29257600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr18:29253800-29257800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr18:29254000-29257600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr18:29254000-29257800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr18:29254200-29257600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr18:29254600-29258000	Weak transcription	HMEC	breast
37	chr18:29254800-29258800	Enhancers	HUVEC	blood vessel
38	chr18:29255000-29256800	Enhancers	Duodenum Mucosa	Duodenum
39	chr18:29255200-29256200	Enhancers	Fetal Intestine Large	intestine
40	chr18:29255200-29257800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr18:29255400-29256000	Enhancers	Stomach Mucosa	stomach
42	chr18:29255400-29256000	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr18:29255600-29257200	Enhancers	GM12878-XiMat	blood
44	chr18:29255600-29257400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr18:29255600-29257400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr18:29255600-29257800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr18:29255600-29258000	Weak transcription	Fetal Lung	lung
48	chr18:29255600-29258400	Weak transcription	Fetal Intestine Small	intestine
49	chr18:29255600-29260000	Enhancers	Pancreatic Islets	Pancreatic Islet

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