Variant report

Variant	rs9949329
Chromosome Location	chr18:29438564-29438565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28420519	1.00[EUR][1000 genomes]
rs28473031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28504474	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28524484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28760310	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59908498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7235871	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7244322	0.91[EUR][1000 genomes]
rs73411516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8084534	0.81[EUR][1000 genomes]
rs8084615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8085869	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8086361	0.91[EUR][1000 genomes]
rs8098568	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9304106	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9948663	1.00[EUR][1000 genomes]
rs9952486	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9952626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9954954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9956632	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9963080	1.00[EUR][1000 genomes]
rs9965666	1.00[AMR][1000 genomes];1.00[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	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
2	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
3	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1057229	chr18:29335175-29514265	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29405600-29481800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:29406200-29518600	Weak transcription	Fetal Brain Male	brain
3	chr18:29408000-29460200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr18:29408600-29471800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr18:29409000-29439000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr18:29409000-29456600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr18:29409800-29466600	Weak transcription	Gastric	stomach
8	chr18:29413800-29456600	Weak transcription	Spleen	Spleen
9	chr18:29414200-29444800	Strong transcription	Fetal Thymus	thymus
10	chr18:29414400-29448200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr18:29415800-29461800	Weak transcription	Fetal Heart	heart
12	chr18:29416200-29456600	Weak transcription	Aorta	Aorta
13	chr18:29417600-29515600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:29418400-29454800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr18:29418400-29470400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr18:29418600-29454400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr18:29418600-29456600	Weak transcription	Right Ventricle	heart
18	chr18:29418800-29454800	Weak transcription	Colonic Mucosa	Colon
19	chr18:29418800-29456600	Weak transcription	NHEK	skin
20	chr18:29419000-29460400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr18:29419000-29461800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr18:29419400-29458600	Weak transcription	NHLF	lung
23	chr18:29421600-29448200	Strong transcription	Dnd41	blood
24	chr18:29421800-29439800	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr18:29421800-29448400	Strong transcription	Adipose Nuclei	Adipose
26	chr18:29421800-29455400	Strong transcription	Liver	Liver
27	chr18:29422000-29445000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr18:29422000-29448200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:29422000-29448200	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr18:29422000-29448200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr18:29422000-29448400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr18:29422200-29447600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr18:29422800-29455200	Weak transcription	Ovary	ovary
34	chr18:29423000-29445200	Strong transcription	Duodenum Mucosa	Duodenum
35	chr18:29423200-29448400	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr18:29423800-29439200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr18:29424000-29438800	Strong transcription	Placenta	Placenta
38	chr18:29424000-29447200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr18:29424000-29448400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr18:29425200-29448600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr18:29425800-29445400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr18:29425800-29456600	Weak transcription	Fetal Brain Female	brain
43	chr18:29426800-29454400	Weak transcription	Esophagus	oesophagus
44	chr18:29428400-29454600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr18:29428600-29439200	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr18:29429000-29453200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr18:29431800-29461800	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr18:29431800-29499000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr18:29431800-29512600	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr18:29432200-29455400	Weak transcription	Placenta Amnion	Placenta Amnion

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