Variant report

Variant	rs58044975
Chromosome Location	chr12:122840508-122840509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1001178	1.00[EUR][1000 genomes]
rs12310939	1.00[EUR][1000 genomes]
rs28439749	1.00[EUR][1000 genomes]
rs28536732	1.00[EUR][1000 genomes]
rs28579554	1.00[EUR][1000 genomes]
rs55639239	1.00[EUR][1000 genomes]
rs56229172	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56276573	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58583917	1.00[EUR][1000 genomes]
rs58865449	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58928984	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59638725	1.00[EUR][1000 genomes]
rs60425908	1.00[EUR][1000 genomes]
rs60595657	1.00[EUR][1000 genomes]
rs61140498	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134462	1.00[EUR][1000 genomes]
rs7135931	1.00[EUR][1000 genomes]
rs7136074	1.00[EUR][1000 genomes]
rs7294427	1.00[EUR][1000 genomes]
rs7294849	1.00[EUR][1000 genomes]
rs7304287	1.00[EUR][1000 genomes]
rs7305870	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73404008	1.00[EUR][1000 genomes]
rs73404018	1.00[EUR][1000 genomes]
rs73404020	1.00[EUR][1000 genomes]
rs73404029	1.00[EUR][1000 genomes]
rs73404037	1.00[EUR][1000 genomes]
rs73404045	1.00[EUR][1000 genomes]
rs73404046	1.00[EUR][1000 genomes]
rs73404065	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73405849	1.00[EUR][1000 genomes]
rs73405864	1.00[EUR][1000 genomes]
rs73421714	1.00[EUR][1000 genomes]
rs73421719	1.00[EUR][1000 genomes]
rs73421737	1.00[EUR][1000 genomes]
rs73421739	1.00[EUR][1000 genomes]
rs73421744	1.00[EUR][1000 genomes]
rs73421747	1.00[EUR][1000 genomes]
rs73421765	1.00[EUR][1000 genomes]
rs7952820	1.00[EUR][1000 genomes]
rs9971771	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122791200-122841600	Strong transcription	Placenta	Placenta
2	chr12:122812800-122844000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:122812800-122850600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:122818400-122852800	Weak transcription	Stomach Mucosa	stomach
5	chr12:122818600-122844200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:122828800-122841200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:122830400-122841200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:122830600-122840600	Strong transcription	HSMMtube	muscle
9	chr12:122830600-122840800	Strong transcription	A549	lung
10	chr12:122830600-122841000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:122830600-122841200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:122830600-122841200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr12:122830600-122841200	Strong transcription	Brain Germinal Matrix	brain
14	chr12:122830800-122841200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr12:122830800-122841800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:122830800-122842400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:122831000-122841000	Strong transcription	Fetal Stomach	stomach
18	chr12:122831200-122840600	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:122831200-122840800	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr12:122832600-122840600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:122833400-122841200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:122833600-122840600	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:122833800-122840600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:122833800-122841200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:122834400-122841200	Strong transcription	Hela-S3	cervix
26	chr12:122834400-122845400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr12:122834800-122841000	Strong transcription	Primary B cells from cord blood	blood
28	chr12:122835000-122840600	Strong transcription	NHEK	skin
29	chr12:122835400-122841400	Strong transcription	Dnd41	blood
30	chr12:122835800-122840600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:122835800-122840600	Strong transcription	HUVEC	blood vessel
32	chr12:122835800-122841200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:122836000-122841000	Strong transcription	Osteobl	bone
34	chr12:122836000-122841200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:122836200-122841000	Strong transcription	HepG2	liver
36	chr12:122836200-122841200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:122836200-122841200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:122836400-122840600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:122836400-122841800	Strong transcription	Fetal Intestine Small	intestine
40	chr12:122836600-122840600	Strong transcription	Lung	lung
41	chr12:122836600-122841000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:122836600-122841200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr12:122836600-122841200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr12:122836800-122840600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:122836800-122840600	Strong transcription	NHLF	lung
46	chr12:122836800-122841200	Strong transcription	Liver	Liver
47	chr12:122836800-122841200	Strong transcription	Duodenum Mucosa	Duodenum
48	chr12:122836800-122841200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr12:122837000-122840600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:122837000-122840600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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