Variant report

Variant	rs7522730
Chromosome Location	chr1:209757500-209757501
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	chr1:209757079..209759138-chr1:209762314..209763873,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11119310	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11119311	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2003682	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2076223	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2076224	0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2356933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4433397	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4556360	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6540544	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6683256	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6695896	0.86[CHB][hapmap]
rs713073	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs713074	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs736137	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7518521	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7528476	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7533785	0.91[CHB][hapmap]
rs7538805	0.90[EUR][1000 genomes]
rs7541558	0.86[ASN][1000 genomes]
rs760832	0.87[CHB][hapmap]
rs926386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429819	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9430004	0.91[CHB][hapmap]
rs977441	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7522730	CAMK1G	cis	lung	GTEx

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209751000-209758600	Weak transcription	HMEC	breast
2	chr1:209756800-209757600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:209756800-209757800	Flanking Active TSS	Fetal Brain Female	brain
4	chr1:209756800-209758000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:209756800-209758000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:209756800-209759200	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr1:209756800-209759400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:209756800-209759600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:209757000-209757600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:209757000-209757600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:209757000-209757600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr1:209757000-209757800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:209757000-209757800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
14	chr1:209757000-209757800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
15	chr1:209757000-209758000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:209757000-209758000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:209757000-209758000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:209757000-209758000	Active TSS	Fetal Lung	lung
19	chr1:209757000-209758200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr1:209757000-209758200	Active TSS	Ovary	ovary
21	chr1:209757000-209758200	Active TSS	NH-A	brain
22	chr1:209757000-209758400	Active TSS	Brain Cingulate Gyrus	brain
23	chr1:209757000-209758400	Active TSS	NHLF	lung
24	chr1:209757000-209758600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
25	chr1:209757000-209759400	Active TSS	Brain Angular Gyrus	brain
26	chr1:209757000-209760000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr1:209757200-209757600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr1:209757200-209757600	Active TSS	H9 Cell Line	embryonic stem cell
29	chr1:209757200-209757600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
30	chr1:209757200-209757600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
31	chr1:209757200-209757600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
32	chr1:209757200-209757800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
33	chr1:209757200-209757800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
34	chr1:209757200-209758000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
35	chr1:209757200-209758000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr1:209757200-209759800	Enhancers	Fetal Heart	heart
37	chr1:209757400-209757600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
38	chr1:209757400-209757600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
39	chr1:209757400-209757600	Flanking Active TSS	Fetal Kidney	kidney
40	chr1:209757400-209757600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr1:209757400-209757600	Bivalent/Poised TSS	Osteobl	bone
42	chr1:209757400-209757800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:209757400-209757800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
44	chr1:209757400-209757800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
45	chr1:209757400-209757800	Active TSS	Fetal Brain Male	brain
46	chr1:209757400-209758000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links