Variant report

Variant	rs12311987
Chromosome Location	chr12:29663121-29663122
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12297627	1.00[EUR][1000 genomes]
rs12299179	1.00[EUR][1000 genomes]
rs12312803	1.00[EUR][1000 genomes]
rs13377890	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv469190	chr12:29612425-29811471	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv557917	chr12:29612425-29811471	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29600600-29675600	Weak transcription	Psoas Muscle	Psoas
2	chr12:29613600-29666800	Weak transcription	Spleen	Spleen
3	chr12:29638400-29666600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:29640000-29669200	Weak transcription	Brain Anterior Caudate	brain
5	chr12:29650400-29699000	Weak transcription	Right Ventricle	heart
6	chr12:29652200-29673200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:29653400-29672200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:29654000-29666600	Weak transcription	Fetal Kidney	kidney
9	chr12:29654000-29667000	Weak transcription	Fetal Stomach	stomach
10	chr12:29654000-29668200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:29654000-29669200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:29654000-29669200	Weak transcription	NHLF	lung
13	chr12:29654200-29666800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:29654600-29669000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:29655200-29669400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:29655400-29672200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:29656200-29669200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:29656200-29673800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:29656400-29666800	Weak transcription	Brain Substantia Nigra	brain
20	chr12:29657000-29666600	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:29657200-29675600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:29657600-29663200	Weak transcription	Fetal Muscle Leg	muscle
23	chr12:29657800-29668200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:29658000-29669000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:29658000-29680200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:29658000-29681200	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:29658200-29668200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:29658200-29669400	Weak transcription	Liver	Liver
29	chr12:29658400-29663400	Weak transcription	Left Ventricle	heart
30	chr12:29658400-29666000	Weak transcription	HSMM	muscle
31	chr12:29658400-29666800	Weak transcription	Aorta	Aorta
32	chr12:29658400-29669600	Weak transcription	Brain Angular Gyrus	brain
33	chr12:29658400-29670000	Weak transcription	Lung	lung
34	chr12:29658400-29690200	Weak transcription	HMEC	breast
35	chr12:29658600-29670200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:29658600-29678800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:29659600-29666800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:29659800-29663200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:29659800-29669600	Weak transcription	HSMMtube	muscle
40	chr12:29660000-29665800	Weak transcription	Hela-S3	cervix
41	chr12:29660000-29672800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr12:29660400-29667000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:29660800-29690000	Weak transcription	NHDF-Ad	bronchial
44	chr12:29661400-29668600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:29661600-29663600	Weak transcription	Adipose Nuclei	Adipose
46	chr12:29661800-29664000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:29662200-29666600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:29662400-29663200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:29662400-29665000	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:29662600-29666800	Weak transcription	Ovary	ovary

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