Variant report

Variant	rs11836373
Chromosome Location	chr12:122704029-122704030
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122698849..122704062-chr12:122705218..122711671,13	MCF-7	breast:
2	chr12:122694941..122697159-chr12:122703894..122706602,2	K562	blood:
3	chr12:122685663..122693033-chr12:122702446..122708793,8	K562	blood:

Variant related genes	Relation type
ENSG00000184047	Chromatin interaction
ENSG00000176383	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	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	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58134429	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60995900	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954394	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	chr12:122691000-122705800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:122691000-122707600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:122691000-122707800	Strong transcription	Thymus	Thymus
10	chr12:122691000-122708200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:122691000-122708800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:122691000-122708800	Strong transcription	A549	lung
13	chr12:122691200-122706600	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr12:122691200-122708000	Strong transcription	Brain Germinal Matrix	brain
15	chr12:122691200-122708000	Strong transcription	Stomach Smooth Muscle	stomach
16	chr12:122691200-122708400	Strong transcription	Duodenum Mucosa	Duodenum
17	chr12:122691200-122708600	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:122691200-122708800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:122691200-122709000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:122691200-122709200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr12:122691400-122705800	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:122691400-122707200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:122691400-122707800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:122691400-122707800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:122691400-122708000	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:122691400-122708200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:122691400-122708400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:122691400-122708400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:122691400-122708800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr12:122691400-122709000	Strong transcription	Primary B cells from peripheral blood	blood
31	chr12:122691400-122709000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:122691400-122709000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:122691400-122709000	Strong transcription	Fetal Thymus	thymus
34	chr12:122691600-122707400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:122691600-122707400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr12:122691600-122707800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:122691600-122708000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:122691600-122708000	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:122691600-122708400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:122691600-122708400	Strong transcription	Placenta	Placenta
41	chr12:122691600-122708400	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:122691600-122709000	Strong transcription	Brain Hippocampus Middle	brain
43	chr12:122691600-122709000	Strong transcription	Fetal Muscle Leg	muscle
44	chr12:122691600-122709200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:122691800-122708000	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr12:122691800-122708400	Strong transcription	Liver	Liver
47	chr12:122691800-122708600	Strong transcription	Rectal Smooth Muscle	rectum
48	chr12:122691800-122709000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr12:122691800-122709000	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr12:122692000-122706800	Strong transcription	NH-A	brain

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