Variant report

Variant	rs2939307
Chromosome Location	chr12:56930045-56930046
allele	A/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]
rs2638336	0.80[AMR][1000 genomes]
rs2657877	0.80[AMR][1000 genomes]
rs774212	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs812282	0.91[AFR][1000 genomes];0.80[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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv899106	chr12:56905558-57004668	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56916800-56930400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:56917000-56958000	Weak transcription	Ovary	ovary
3	chr12:56917200-56956200	Weak transcription	Primary T cells from cord blood	blood
4	chr12:56917200-56959200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:56917400-56931400	Weak transcription	Right Ventricle	heart
6	chr12:56921200-56930800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:56921400-56933400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:56921400-56956200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:56922000-56933000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:56922000-56935400	Weak transcription	Fetal Lung	lung
11	chr12:56922400-56956200	Weak transcription	HSMM	muscle
12	chr12:56922400-56959200	Weak transcription	Fetal Kidney	kidney
13	chr12:56923200-56949200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:56923400-56931200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:56923600-56930800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:56923600-56931200	Weak transcription	Osteobl	bone
17	chr12:56923600-56933000	Weak transcription	NHEK	skin
18	chr12:56923800-56930800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:56923800-56931000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:56923800-56931000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:56923800-56938800	Weak transcription	HMEC	breast
22	chr12:56923800-56959400	Weak transcription	Aorta	Aorta
23	chr12:56924000-56930400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:56924200-56930800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:56924400-56934200	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:56924800-56930400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:56924800-56931000	Weak transcription	Adipose Nuclei	Adipose
28	chr12:56924800-56933400	Weak transcription	HUVEC	blood vessel
29	chr12:56924800-56959200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:56925000-56931000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:56925000-56959200	Weak transcription	HSMMtube	muscle
32	chr12:56925200-56930800	Weak transcription	NHLF	lung
33	chr12:56925400-56931000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:56927600-56930800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:56927600-56934200	Weak transcription	Fetal Stomach	stomach
36	chr12:56927600-56946800	Weak transcription	Left Ventricle	heart
37	chr12:56928200-56931000	Weak transcription	Hela-S3	cervix
38	chr12:56928200-56932400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:56928400-56952400	Weak transcription	Fetal Intestine Large	intestine
40	chr12:56929600-56931000	Enhancers	Lung	lung
41	chr12:56929800-56931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:56929800-56932000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:56929800-56934600	Weak transcription	Fetal Intestine Small	intestine
44	chr12:56929800-56955600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:56930000-56930200	Enhancers	A549	lung
46	chr12:56930000-56931000	Enhancers	Placenta	Placenta
47	chr12:56930000-56933200	Enhancers	Primary monocytes fromperipheralblood	blood

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