Variant report

Variant	rs12819431
Chromosome Location	chr12:121680787-121680788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121679312..121681316-chr12:121682366..121683983,2	K562	blood:
2	chr12:121674738..121676448-chr12:121680498..121682374,2	MCF-7	breast:
3	chr12:121676166..121678548-chr12:121679208..121682170,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11065478	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs11065501	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11065504	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12823779	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2686343	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs34617045	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35898441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3794205	0.90[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3794207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats 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 target site	22 gene(s)	inside rSNPs	diseases
7	nsv899564	chr12:121641509-121689798	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv899565	chr12:121641509-121698785	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv455731	chr12:121668254-121687174	Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv560456	chr12:121668254-121687174	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs12819431	CAMKK2	cis	Lymphoblastoid	GTEx
rs12819431	CAMKK2	cis	multi-tissue	Pritchard
rs12819431	CAMKK2	cis	Frontal Cortex	GTEx
rs12819431	CAMKK2	Cis_1M	lymphoblastoid	RTeQTL
rs12819431	CAMKK2	cis	Temporal Cortex	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121653200-121698800	Weak transcription	Fetal Heart	heart
2	chr12:121662800-121690600	Weak transcription	Fetal Brain Male	brain
3	chr12:121665600-121681400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:121667800-121685200	Weak transcription	Hela-S3	cervix
5	chr12:121670200-121689400	Strong transcription	Fetal Brain Female	brain
6	chr12:121670600-121695000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:121671200-121686200	Weak transcription	Small Intestine	intestine
8	chr12:121671800-121681200	Weak transcription	Brain Angular Gyrus	brain
9	chr12:121673600-121681200	Weak transcription	HMEC	breast
10	chr12:121674400-121687800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:121674600-121692800	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:121674600-121704200	Strong transcription	Brain Germinal Matrix	brain
13	chr12:121676800-121681200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:121676800-121684800	Weak transcription	Stomach Mucosa	stomach
15	chr12:121677200-121681200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:121677200-121681200	Weak transcription	Pancreas	Pancrea
17	chr12:121677400-121681000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:121677400-121681200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:121677400-121681200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:121677400-121681200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:121677400-121686800	Weak transcription	HUVEC	blood vessel
22	chr12:121677400-121688000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:121677400-121695600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:121677400-121717000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:121677400-121717200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr12:121677600-121688400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:121678200-121681200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:121678400-121681200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:121678400-121681200	Weak transcription	HSMMtube	muscle
30	chr12:121678600-121690400	Weak transcription	Psoas Muscle	Psoas
31	chr12:121678800-121682600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:121679000-121681200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:121679000-121681200	Weak transcription	NH-A	brain
34	chr12:121679000-121713000	Strong transcription	Fetal Intestine Large	intestine
35	chr12:121679200-121681000	Weak transcription	Adipose Nuclei	Adipose
36	chr12:121679200-121681000	Weak transcription	Osteobl	bone
37	chr12:121679200-121681200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:121679200-121681200	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:121679200-121681200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:121679200-121681200	Weak transcription	Left Ventricle	heart
41	chr12:121679200-121681200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:121679200-121681400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:121679200-121681600	Weak transcription	Aorta	Aorta
44	chr12:121679200-121685000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr12:121679200-121709200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:121679200-121714400	Weak transcription	Right Atrium	heart
47	chr12:121679400-121681200	Weak transcription	Primary B cells from cord blood	blood
48	chr12:121679400-121681200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:121679400-121681200	Weak transcription	Brain Substantia Nigra	brain
50	chr12:121679400-121681200	Weak transcription	Fetal Lung	lung

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