Variant report

Variant	rs57470002
Chromosome Location	chr12:46327609-46327610
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs56884429	0.83[AFR][1000 genomes]
rs73290779	0.83[AFR][1000 genomes]
rs73290786	0.83[AFR][1000 genomes]
rs73290789	0.83[AFR][1000 genomes]
rs73290790	0.83[AFR][1000 genomes]
rs73292505	0.83[AFR][1000 genomes]
rs73292506	0.83[AFR][1000 genomes]
rs73292513	0.83[AFR][1000 genomes]
rs73292514	0.83[AFR][1000 genomes]
rs73292528	0.83[AFR][1000 genomes]
rs73292535	0.83[AFR][1000 genomes]
rs73292551	0.83[AFR][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	esv2758306	chr12:46149338-46349891	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759897	chr12:46149338-46349891	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv832397	chr12:46265990-46453733	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46281400-46328800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:46299000-46381000	Weak transcription	Brain Germinal Matrix	brain
3	chr12:46311000-46329000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:46311000-46329000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:46311200-46328200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:46311200-46328600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:46311400-46329000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:46311400-46329000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:46312000-46327800	Strong transcription	Osteobl	bone
10	chr12:46312000-46328800	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr12:46312000-46329800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:46312000-46330000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr12:46312000-46330000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr12:46312200-46348600	Strong transcription	Dnd41	blood
15	chr12:46312400-46327800	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr12:46312400-46328200	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr12:46312400-46329200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr12:46312600-46327800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:46312800-46328800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:46314400-46328000	Strong transcription	Fetal Thymus	thymus
21	chr12:46314600-46345600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:46314800-46328400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:46315000-46327800	Strong transcription	Fetal Intestine Large	intestine
24	chr12:46315000-46327800	Strong transcription	GM12878-XiMat	blood
25	chr12:46315000-46328800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr12:46315200-46327800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:46315400-46328000	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr12:46315800-46328200	Strong transcription	Placenta	Placenta
29	chr12:46316600-46343400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:46317000-46341400	Weak transcription	Gastric	stomach
31	chr12:46318800-46338600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:46318800-46339200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:46319200-46341400	Weak transcription	Lung	lung
34	chr12:46319200-46362800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:46319800-46329200	Strong transcription	HepG2	liver
36	chr12:46321000-46333200	Weak transcription	Fetal Intestine Small	intestine
37	chr12:46322400-46328800	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr12:46322400-46328800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:46322400-46329000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:46322400-46329400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:46322400-46337400	Weak transcription	Fetal Brain Female	brain
42	chr12:46322600-46328800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:46322600-46331800	Weak transcription	Ovary	ovary
44	chr12:46322600-46335200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:46322600-46338600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr12:46322600-46340000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr12:46322600-46341400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:46322600-46341400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr12:46322600-46341400	Weak transcription	Pancreas	Pancrea
50	chr12:46322600-46360200	Weak transcription	Fetal Brain Male	brain

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