Variant report

Variant	rs60995900
Chromosome Location	chr12:122701674-122701675
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr12:122701512-122701712	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122698849..122704062-chr12:122705218..122711671,13	MCF-7	breast:

Variant related genes	Relation type
DIABLO	TF binding region
ENSG00000184047	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11057290	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11061368	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836373	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12426902	0.80[EUR][1000 genomes]
rs12580043	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1882581	0.95[EUR][1000 genomes]
rs2089887	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35422129	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58134429	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954363	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954365	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954366	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954367	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954368	0.93[EUR][1000 genomes]
rs61954369	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954370	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954371	0.93[EUR][1000 genomes]
rs61954374	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954376	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954377	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954378	0.93[EUR][1000 genomes]
rs61954381	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954382	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954383	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954393	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954394	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954395	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954397	0.88[EUR][1000 genomes]
rs61955587	0.81[EUR][1000 genomes]
rs61955588	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61955589	0.98[EUR][1000 genomes]
rs6489250	0.83[ASN][1000 genomes]
rs7132789	0.86[EUR][1000 genomes]
rs7303975	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7311354	0.95[EUR][1000 genomes]
rs7953290	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7964780	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968764	0.95[EUR][1000 genomes]
rs7979955	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs907485	0.95[EUR][1000 genomes];0.83[ASN][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	chr12:122690600-122708000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:122690800-122706000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:122690800-122708400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:122690800-122708800	Strong transcription	Fetal Brain Female	brain
6	chr12:122690800-122709400	Weak transcription	Stomach Mucosa	stomach
7	chr12:122691000-122703200	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:122691000-122705800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:122691000-122707600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:122691000-122707800	Strong transcription	Thymus	Thymus
11	chr12:122691000-122708200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:122691000-122708800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:122691000-122708800	Strong transcription	A549	lung
14	chr12:122691200-122706600	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr12:122691200-122708000	Strong transcription	Brain Germinal Matrix	brain
16	chr12:122691200-122708000	Strong transcription	Stomach Smooth Muscle	stomach
17	chr12:122691200-122708400	Strong transcription	Duodenum Mucosa	Duodenum
18	chr12:122691200-122708600	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr12:122691200-122708800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:122691200-122709000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:122691200-122709200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr12:122691400-122701800	Strong transcription	HSMM	muscle
23	chr12:122691400-122703000	Strong transcription	Brain Anterior Caudate	brain
24	chr12:122691400-122703000	Strong transcription	Fetal Intestine Large	intestine
25	chr12:122691400-122703200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:122691400-122704000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:122691400-122704000	Strong transcription	Dnd41	blood
28	chr12:122691400-122705800	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr12:122691400-122707200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:122691400-122707800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:122691400-122707800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:122691400-122708000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:122691400-122708200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr12:122691400-122708400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:122691400-122708400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:122691400-122708800	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr12:122691400-122709000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr12:122691400-122709000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr12:122691400-122709000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:122691400-122709000	Strong transcription	Fetal Thymus	thymus
41	chr12:122691600-122703200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:122691600-122707400	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr12:122691600-122707400	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr12:122691600-122707800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:122691600-122708000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:122691600-122708000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:122691600-122708400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:122691600-122708400	Strong transcription	Placenta	Placenta
49	chr12:122691600-122708400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:122691600-122709000	Strong transcription	Brain Hippocampus Middle	brain

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