Variant report

Variant	rs11050265
Chromosome Location	chr12:29671844-29671845
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11050264	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12164837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12227259	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297627	1.00[TSI][hapmap]
rs12299179	1.00[TSI][hapmap]
rs12319420	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29600600-29675600	Weak transcription	Psoas Muscle	Psoas
2	chr12:29650400-29699000	Weak transcription	Right Ventricle	heart
3	chr12:29652200-29673200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:29653400-29672200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:29655400-29672200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:29656200-29673800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:29657200-29675600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:29658000-29680200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:29658000-29681200	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:29658400-29690200	Weak transcription	HMEC	breast
11	chr12:29658600-29678800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:29660000-29672800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:29660800-29690000	Weak transcription	NHDF-Ad	bronchial
14	chr12:29665400-29725400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:29665800-29675000	Weak transcription	Fetal Heart	heart
16	chr12:29667000-29680200	Weak transcription	Fetal Kidney	kidney
17	chr12:29667200-29672000	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:29667200-29695600	Weak transcription	Ovary	ovary
19	chr12:29668600-29674600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:29668600-29690000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:29668600-29695800	Weak transcription	Aorta	Aorta
22	chr12:29668800-29706000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:29668800-29716600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:29669800-29672600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:29669800-29673600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:29670000-29672600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:29670000-29673400	Weak transcription	Brain Anterior Caudate	brain
28	chr12:29670000-29674000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:29670000-29674000	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr12:29670600-29675000	Weak transcription	HSMM	muscle
31	chr12:29670600-29677400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:29670600-29680200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:29670600-29687000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:29670600-29687800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:29670600-29697400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr12:29670600-29699000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:29671000-29688000	Weak transcription	Fetal Muscle Leg	muscle
38	chr12:29671000-29697200	Weak transcription	Spleen	Spleen
39	chr12:29671200-29672200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:29671600-29672400	Weak transcription	Hela-S3	cervix
41	chr12:29671600-29674600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:29671600-29681000	Weak transcription	Adipose Nuclei	Adipose
43	chr12:29671600-29681000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:29671600-29695400	Weak transcription	Fetal Stomach	stomach
45	chr12:29671600-29697200	Weak transcription	Left Ventricle	heart

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