Variant report

Variant	rs4382975
Chromosome Location	chr12:104765605-104765606
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11112009	0.95[ASN][1000 genomes]
rs11112011	0.95[ASN][1000 genomes]
rs11112012	0.95[ASN][1000 genomes]
rs11608280	0.95[ASN][1000 genomes]
rs11608353	0.95[ASN][1000 genomes]
rs11608401	0.95[ASN][1000 genomes]
rs11608818	0.95[ASN][1000 genomes]
rs11608833	0.95[ASN][1000 genomes]
rs11610993	0.95[ASN][1000 genomes]
rs11612389	0.95[ASN][1000 genomes]
rs11615219	0.95[ASN][1000 genomes]
rs11829691	0.82[ASN][1000 genomes]
rs17035401	0.97[ASN][1000 genomes]
rs4129848	0.95[ASN][1000 genomes]
rs7296888	0.80[ASN][1000 genomes]
rs73181918	0.86[ASN][1000 genomes]
rs73181933	0.95[ASN][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	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104749000-104765800	Weak transcription	Thymus	Thymus
2	chr12:104749800-104769400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:104763800-104768000	Enhancers	Placenta	Placenta
4	chr12:104764600-104767000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr12:104764800-104765800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:104764800-104765800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:104764800-104765800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:104764800-104765800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:104764800-104765800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:104764800-104765800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:104764800-104765800	Enhancers	HMEC	breast
12	chr12:104764800-104765800	Enhancers	HSMM	muscle
13	chr12:104764800-104765800	Enhancers	Osteobl	bone
14	chr12:104764800-104766000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr12:104764800-104766000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:104764800-104766000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr12:104764800-104766000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:104764800-104766000	Enhancers	HSMMtube	muscle
19	chr12:104764800-104766200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:104764800-104766200	Flanking Active TSS	A549	lung
21	chr12:104764800-104766200	Enhancers	NHEK	skin
22	chr12:104764800-104766400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr12:104764800-104766400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr12:104764800-104766600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr12:104764800-104766600	Enhancers	HUVEC	blood vessel
26	chr12:104764800-104766800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr12:104764800-104766800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr12:104764800-104767000	Enhancers	H9 Cell Line	embryonic stem cell
29	chr12:104764800-104767000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:104765000-104765800	Enhancers	NHDF-Ad	bronchial
31	chr12:104765000-104766000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr12:104765000-104766200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:104765000-104766400	Enhancers	NH-A	brain
34	chr12:104765000-104766600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr12:104765200-104765800	Enhancers	Lung	lung
36	chr12:104765200-104766200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:104765200-104766400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:104765200-104767200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:104765400-104765800	Weak transcription	Primary T cells from cord blood	blood
40	chr12:104765400-104765800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:104765400-104766600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr12:104765400-104766600	Enhancers	Primary T cells fromperipheralblood	blood
43	chr12:104765400-104766600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr12:104765400-104766600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:104765400-104766800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:104765400-104766800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:104765400-104766800	Enhancers	Fetal Thymus	thymus
48	chr12:104765400-104767000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:104765400-104767200	Enhancers	Primary hematopoietic stem cells	blood
50	chr12:104765600-104766400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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