Variant report

Variant	rs72676279
Chromosome Location	chr1:62418487-62418488
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10489968	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11582438	0.83[AFR][1000 genomes]
rs17313153	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17385742	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4915790	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4915791	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72676267	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72676271	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72676275	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72676286	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518627	chr1:62279594-62517947	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv522020	chr1:62279594-62517947	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv531876	chr1:62302313-62504349	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1110	chr1:62395723-62454435	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv546415	chr1:62405873-62437872	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1001667	chr1:62407786-62649838	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1011842	chr1:62414911-62428530	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62350600-62428200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:62385000-62494200	Weak transcription	Aorta	Aorta
3	chr1:62393800-62422400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:62406600-62430200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:62409000-62436800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr1:62409200-62456000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:62409200-62456800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:62409200-62457000	Weak transcription	Fetal Intestine Large	intestine
9	chr1:62409200-62518600	Weak transcription	Pancreas	Pancrea
10	chr1:62409400-62429600	Weak transcription	Gastric	stomach
11	chr1:62409400-62458400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:62410200-62425200	Weak transcription	Fetal Intestine Small	intestine
13	chr1:62416200-62418600	Enhancers	NHEK	skin
14	chr1:62416600-62419200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:62416600-62420000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:62416800-62419600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:62416800-62426800	Weak transcription	HepG2	liver
18	chr1:62417000-62418600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr1:62417000-62419200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr1:62417200-62418600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:62417200-62418600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr1:62417200-62418600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:62417200-62418800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:62417200-62418800	Enhancers	HMEC	breast
25	chr1:62417200-62419000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:62417400-62418600	Enhancers	Fetal Heart	heart
27	chr1:62417400-62418800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:62417400-62418800	Enhancers	NH-A	brain
29	chr1:62417400-62419000	Enhancers	Brain Germinal Matrix	brain
30	chr1:62417400-62419800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:62417600-62421800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:62417800-62419200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:62417800-62419600	Active TSS	Right Atrium	heart
34	chr1:62417800-62419800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:62417800-62431600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:62418000-62418600	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr1:62418000-62428800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:62418200-62419400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr1:62418200-62419600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:62418200-62419800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr1:62418200-62420800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:62418200-62421000	Weak transcription	Psoas Muscle	Psoas
43	chr1:62418200-62421800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr1:62418200-62446400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:62418400-62418800	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr1:62418400-62419200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:62418400-62419200	Weak transcription	Left Ventricle	heart
48	chr1:62418400-62419800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:62418400-62420000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr1:62418400-62421600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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