Variant report

Variant	rs2979249
Chromosome Location	chr8:8915489-8915490
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11780214	0.86[EUR][1000 genomes]
rs11782281	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12681075	1.00[CEU][hapmap]
rs13257208	0.96[EUR][1000 genomes]
rs17155071	1.00[CEU][hapmap]
rs1900102	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs2044388	1.00[CEU][hapmap]
rs2084076	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2288669	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2288670	0.81[EUR][1000 genomes]
rs2288672	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2409119	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2915248	0.82[EUR][1000 genomes]
rs2915252	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2921370	0.84[JPT][hapmap]
rs2921373	0.83[ASN][1000 genomes]
rs2921374	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2921376	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2921378	0.88[ASN][1000 genomes]
rs2921379	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2953800	1.00[CEU][hapmap]
rs2953803	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2953805	0.95[ASN][1000 genomes]
rs2953806	0.85[ASN][1000 genomes]
rs2953808	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2953809	0.88[EUR][1000 genomes]
rs2956242	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2956243	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2979246	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2979250	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2979260	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2979261	1.00[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs2979263	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2979264	0.80[EUR][1000 genomes]
rs2979266	1.00[CEU][hapmap]
rs4081881	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4841085	1.00[CEU][hapmap]
rs6422353	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7357601	0.82[EUR][1000 genomes]
rs7813388	1.00[CEU][hapmap]
rs7824140	0.83[EUR][1000 genomes]
rs895254	0.84[JPT][hapmap]
rs987537	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs987538	1.00[CEU][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8861800-8915600	Weak transcription	Pancreas	Pancrea
2	chr8:8899000-8919200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:8913000-8915600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:8913600-8916400	Enhancers	Fetal Intestine Large	intestine
5	chr8:8914400-8916000	Enhancers	Ovary	ovary
6	chr8:8914600-8915600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:8914600-8915600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:8914600-8915600	Enhancers	Left Ventricle	heart
9	chr8:8914600-8915800	Enhancers	Aorta	Aorta
10	chr8:8914600-8915800	Enhancers	Fetal Muscle Trunk	muscle
11	chr8:8914600-8916000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:8914600-8916000	Enhancers	Fetal Muscle Leg	muscle
13	chr8:8914600-8916000	Enhancers	Placenta	Placenta
14	chr8:8914600-8916200	Enhancers	Fetal Intestine Small	intestine
15	chr8:8914600-8916200	Enhancers	NHLF	lung
16	chr8:8914600-8917000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:8914800-8915600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:8914800-8915600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:8914800-8915600	Flanking Active TSS	Fetal Heart	heart
20	chr8:8914800-8915600	Enhancers	Stomach Smooth Muscle	stomach
21	chr8:8914800-8915800	Enhancers	Right Ventricle	heart
22	chr8:8914800-8916000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:8914800-8916000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:8914800-8916000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:8914800-8916000	Enhancers	Fetal Stomach	stomach
26	chr8:8914800-8916000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr8:8914800-8916200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr8:8914800-8916200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:8914800-8916200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:8914800-8916200	Enhancers	Fetal Lung	lung
31	chr8:8914800-8916200	Enhancers	NH-A	brain
32	chr8:8914800-8916400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr8:8915000-8915600	Enhancers	Adipose Nuclei	Adipose
34	chr8:8915000-8915800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:8915000-8916000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:8915000-8916200	Enhancers	Placenta Amnion	Placenta Amnion
37	chr8:8915000-8916400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:8915000-8916400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr8:8915000-8916400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr8:8915000-8923600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr8:8915200-8915600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr8:8915200-8915600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:8915200-8915600	Enhancers	Psoas Muscle	Psoas
44	chr8:8915200-8915800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:8915200-8915800	Flanking Active TSS	Osteobl	bone
46	chr8:8915200-8916000	Enhancers	H1 Cell Line	embryonic stem cell
47	chr8:8915200-8916000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:8915200-8916000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:8915200-8916000	Enhancers	Brain Germinal Matrix	brain
50	chr8:8915200-8916000	Flanking Active TSS	HSMM	muscle

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