Variant report

Variant	rs12309911
Chromosome Location	chr12:29817300-29817301
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4505145	1.00[AMR][1000 genomes]
rs57529902	1.00[AMR][1000 genomes]
rs73269861	1.00[AMR][1000 genomes]
rs73271776	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1053629	chr12:29680163-29826626	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv870004	chr12:29762415-29825798	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29778400-29826000	Weak transcription	Fetal Kidney	kidney
2	chr12:29792000-29820800	Weak transcription	Spleen	Spleen
3	chr12:29793400-29826200	Weak transcription	NHLF	lung
4	chr12:29794000-29820000	Weak transcription	Brain Anterior Caudate	brain
5	chr12:29794200-29825600	Weak transcription	Fetal Stomach	stomach
6	chr12:29794200-29825600	Weak transcription	HMEC	breast
7	chr12:29794400-29819800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:29794400-29831800	Weak transcription	Ovary	ovary
9	chr12:29794800-29825600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:29794800-29829400	Weak transcription	Hela-S3	cervix
11	chr12:29803600-29824600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:29805600-29824600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:29806600-29821000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:29806800-29829200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:29807600-29819600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:29810200-29825400	Weak transcription	HSMMtube	muscle
17	chr12:29810400-29825200	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:29811000-29825200	Weak transcription	Fetal Heart	heart
19	chr12:29812800-29818800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:29813400-29825200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:29813400-29825600	Weak transcription	HSMM	muscle
22	chr12:29813600-29820800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:29813600-29822200	Weak transcription	Adipose Nuclei	Adipose
24	chr12:29813600-29825000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:29814000-29824600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:29814000-29824600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:29816200-29819600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:29816200-29819600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:29816200-29819800	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:29816200-29820000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:29816200-29825200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:29816200-29825200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr12:29816200-29825600	Weak transcription	Left Ventricle	heart
34	chr12:29816400-29817600	Weak transcription	Liver	Liver
35	chr12:29816400-29818600	Weak transcription	Psoas Muscle	Psoas
36	chr12:29816400-29819600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr12:29816400-29819800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:29816400-29819800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:29816400-29820000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:29816400-29820800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr12:29816400-29820800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:29816400-29821800	Weak transcription	Aorta	Aorta
43	chr12:29816600-29819800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:29816600-29819800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:29816600-29820800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr12:29816600-29840400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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