Variant report

Variant	rs12164837
Chromosome Location	chr12:29668972-29668973
allele	C/T
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]
rs11050264	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12227259	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12319420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29600600-29675600	Weak transcription	Psoas Muscle	Psoas
2	chr12:29640000-29669200	Weak transcription	Brain Anterior Caudate	brain
3	chr12:29650400-29699000	Weak transcription	Right Ventricle	heart
4	chr12:29652200-29673200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:29653400-29672200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:29654000-29669200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:29654000-29669200	Weak transcription	NHLF	lung
8	chr12:29654600-29669000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:29655200-29669400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:29655400-29672200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:29656200-29669200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:29656200-29673800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:29657200-29675600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:29658000-29669000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:29658000-29680200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:29658000-29681200	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:29658200-29669400	Weak transcription	Liver	Liver
18	chr12:29658400-29669600	Weak transcription	Brain Angular Gyrus	brain
19	chr12:29658400-29670000	Weak transcription	Lung	lung
20	chr12:29658400-29690200	Weak transcription	HMEC	breast
21	chr12:29658600-29670200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr12:29658600-29678800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:29659800-29669600	Weak transcription	HSMMtube	muscle
24	chr12:29660000-29672800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr12:29660800-29690000	Weak transcription	NHDF-Ad	bronchial
26	chr12:29663000-29669200	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr12:29663400-29671600	Strong transcription	Left Ventricle	heart
28	chr12:29664000-29669200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:29664000-29671600	Strong transcription	Adipose Nuclei	Adipose
30	chr12:29664000-29671600	Strong transcription	Stomach Smooth Muscle	stomach
31	chr12:29665400-29725400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:29665800-29675000	Weak transcription	Fetal Heart	heart
33	chr12:29666000-29669000	Strong transcription	HSMM	muscle
34	chr12:29666000-29671000	Weak transcription	Esophagus	oesophagus
35	chr12:29666400-29669200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:29666400-29669200	Weak transcription	Hela-S3	cervix
37	chr12:29666600-29671600	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:29666800-29670600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:29666800-29670600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:29666800-29671000	Strong transcription	Fetal Muscle Leg	muscle
41	chr12:29667000-29671600	Strong transcription	Fetal Stomach	stomach
42	chr12:29667000-29680200	Weak transcription	Fetal Kidney	kidney
43	chr12:29667200-29670200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:29667200-29672000	Weak transcription	Brain Hippocampus Middle	brain
45	chr12:29667200-29695600	Weak transcription	Ovary	ovary
46	chr12:29667600-29669000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:29667600-29669200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:29668000-29670400	Weak transcription	Fetal Brain Male	brain
49	chr12:29668400-29669600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:29668400-29670200	Weak transcription	Brain Substantia Nigra	brain

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