Variant report

Variant	rs2356933
Chromosome Location	chr1:209758060-209758061
allele	C/T
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];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs4433397	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4556360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6540544	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.97[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	0.87[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];0.91[JPT][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]
rs7522730	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]
rs7528476	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7533785	0.92[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[JPT][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];0.95[JPT][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
rs2356933	CAMK1G	cis	lung	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209751000-209758600	Weak transcription	HMEC	breast
2	chr1:209756800-209759200	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr1:209756800-209759400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:209756800-209759600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:209757000-209758200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr1:209757000-209758200	Active TSS	Ovary	ovary
7	chr1:209757000-209758200	Active TSS	NH-A	brain
8	chr1:209757000-209758400	Active TSS	Brain Cingulate Gyrus	brain
9	chr1:209757000-209758400	Active TSS	NHLF	lung
10	chr1:209757000-209758600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
11	chr1:209757000-209759400	Active TSS	Brain Angular Gyrus	brain
12	chr1:209757000-209760000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr1:209757200-209759800	Enhancers	Fetal Heart	heart
14	chr1:209757600-209758800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr1:209757600-209758800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr1:209757600-209759000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:209757800-209758200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
18	chr1:209757800-209758200	Active TSS	Fetal Brain Female	brain
19	chr1:209757800-209758600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:209757800-209758600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
21	chr1:209757800-209758800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr1:209757800-209758800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:209757800-209759600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:209757800-209759800	Bivalent Enhancer	Fetal Stomach	stomach
25	chr1:209758000-209758200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:209758000-209758200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:209758000-209758200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
28	chr1:209758000-209758200	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
29	chr1:209758000-209758200	Flanking Active TSS	Fetal Lung	lung
30	chr1:209758000-209758200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
31	chr1:209758000-209758400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:209758000-209758400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
33	chr1:209758000-209758800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr1:209758000-209759000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:209758000-209759000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr1:209758000-209760000	Enhancers	Fetal Kidney	kidney

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