Variant report

Variant	rs59315366
Chromosome Location	chr12:122699897-122699898
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122698910..122700836-chr12:122702441..122704463,2	K562	blood:
2	chr12:122698849..122704062-chr12:122705218..122711671,13	MCF-7	breast:
3	chr12:122655739..122657400-chr12:122697798..122700645,2	K562	blood:
4	chr12:122687421..122694629-chr12:122696694..122700188,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176383	Chromatin interaction
ENSG00000184047	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12579871	1.00[EUR][1000 genomes]
rs34996966	1.00[EUR][1000 genomes]
rs55759231	1.00[EUR][1000 genomes]
rs55778375	1.00[EUR][1000 genomes]
rs56038133	1.00[EUR][1000 genomes]
rs56207858	1.00[EUR][1000 genomes]
rs56219573	1.00[EUR][1000 genomes]
rs56241657	1.00[EUR][1000 genomes]
rs56981632	1.00[EUR][1000 genomes]
rs58226649	1.00[EUR][1000 genomes]
rs59553747	1.00[EUR][1000 genomes]
rs59743902	1.00[EUR][1000 genomes]
rs60258475	1.00[EUR][1000 genomes]
rs60317410	1.00[EUR][1000 genomes]
rs60425908	0.85[AMR][1000 genomes]
rs60623525	1.00[EUR][1000 genomes]
rs60810217	0.85[AMR][1000 genomes]
rs61096099	1.00[EUR][1000 genomes]
rs61954384	1.00[EUR][1000 genomes]
rs6488916	1.00[EUR][1000 genomes]
rs6488917	1.00[EUR][1000 genomes]
rs71082959	1.00[EUR][1000 genomes]
rs7955389	1.00[EUR][1000 genomes]
rs7970522	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122689000-122709000	Weak transcription	Right Atrium	heart
2	chr12:122690600-122700400	Weak transcription	Fetal Heart	heart
3	chr12:122690600-122708000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:122690800-122700400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:122690800-122706000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:122690800-122708400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:122690800-122708800	Strong transcription	Fetal Brain Female	brain
8	chr12:122690800-122709400	Weak transcription	Stomach Mucosa	stomach
9	chr12:122691000-122700800	Strong transcription	Fetal Intestine Small	intestine
10	chr12:122691000-122703200	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:122691000-122705800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:122691000-122707600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:122691000-122707800	Strong transcription	Thymus	Thymus
14	chr12:122691000-122708200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:122691000-122708800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:122691000-122708800	Strong transcription	A549	lung
17	chr12:122691200-122700800	Strong transcription	Spleen	Spleen
18	chr12:122691200-122706600	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr12:122691200-122708000	Strong transcription	Brain Germinal Matrix	brain
20	chr12:122691200-122708000	Strong transcription	Stomach Smooth Muscle	stomach
21	chr12:122691200-122708400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr12:122691200-122708600	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:122691200-122708800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:122691200-122709000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:122691200-122709200	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr12:122691400-122701800	Strong transcription	HSMM	muscle
27	chr12:122691400-122703000	Strong transcription	Brain Anterior Caudate	brain
28	chr12:122691400-122703000	Strong transcription	Fetal Intestine Large	intestine
29	chr12:122691400-122703200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:122691400-122704000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:122691400-122704000	Strong transcription	Dnd41	blood
32	chr12:122691400-122705800	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr12:122691400-122707200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:122691400-122707800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:122691400-122707800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:122691400-122708000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:122691400-122708200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr12:122691400-122708400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:122691400-122708400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:122691400-122708800	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr12:122691400-122709000	Strong transcription	Primary B cells from peripheral blood	blood
42	chr12:122691400-122709000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:122691400-122709000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:122691400-122709000	Strong transcription	Fetal Thymus	thymus
45	chr12:122691600-122700600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:122691600-122703200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:122691600-122707400	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:122691600-122707400	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr12:122691600-122707800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:122691600-122708000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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