Variant report

Variant	rs2283361
Chromosome Location	chr12:120543478-120543479
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120542078..120544361-chr12:120724685..120726215,2	MCF-7	breast:
2	chr12:120542824..120544328-chr12:120637481..120639841,2	K562	blood:
3	chr12:120537177..120551260-chr12:120551865..120557471,32	MCF-7	breast:
4	chr12:120501695..120503857-chr12:120542660..120544781,2	MCF-7	breast:
5	chr12:120539029..120543839-chr12:120726926..120732179,7	MCF-7	breast:
6	chr12:120542957..120544587-chr12:120544592..120546280,3	MCF-7	breast:
7	chr12:120541333..120544024-chr12:120545087..120548824,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000135127	Chromatin interaction
ENSG00000111737	Chromatin interaction
ENSG00000089157	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11833221	0.83[ASN][1000 genomes]
rs12313413	0.81[ASN][1000 genomes]
rs16949946	0.81[ASN][1000 genomes]
rs16949961	0.81[ASN][1000 genomes]
rs17841967	0.81[ASN][1000 genomes]
rs2239200	0.82[ASN][1000 genomes]
rs2239201	0.82[ASN][1000 genomes]
rs2239202	0.81[ASN][1000 genomes]
rs2239203	0.82[ASN][1000 genomes]
rs2239204	0.81[ASN][1000 genomes]
rs2283360	0.81[ASN][1000 genomes]
rs4105713	0.81[ASN][1000 genomes]
rs59168361	0.81[ASN][1000 genomes]
rs6490281	0.81[ASN][1000 genomes]
rs7300023	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7958497	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	nsv560434	chr12:120534147-120545718	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120525600-120551800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:120525800-120553400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:120527400-120546800	Strong transcription	Thymus	Thymus
4	chr12:120527600-120546000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:120529000-120546800	Strong transcription	Dnd41	blood
6	chr12:120533800-120553000	Weak transcription	Fetal Kidney	kidney
7	chr12:120534400-120553200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:120534600-120546800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:120534600-120547200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:120534600-120548200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:120537000-120543800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:120537800-120544400	Genic enhancers	Placenta	Placenta
13	chr12:120539200-120552600	Weak transcription	Fetal Brain Male	brain
14	chr12:120539600-120545800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr12:120539600-120546600	Strong transcription	Fetal Brain Female	brain
16	chr12:120539600-120551600	Weak transcription	Fetal Lung	lung
17	chr12:120539600-120552200	Strong transcription	Fetal Stomach	stomach
18	chr12:120539800-120544200	Strong transcription	Liver	Liver
19	chr12:120540000-120546400	Weak transcription	Colon Smooth Muscle	Colon
20	chr12:120540000-120546800	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:120540000-120547600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr12:120540000-120553000	Weak transcription	HSMMtube	muscle
23	chr12:120540200-120544000	Strong transcription	HUVEC	blood vessel
24	chr12:120540200-120545400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:120540400-120544000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:120540400-120544600	Strong transcription	Brain Germinal Matrix	brain
27	chr12:120540400-120546000	Strong transcription	Primary T cells from cord blood	blood
28	chr12:120540400-120546600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:120540400-120546600	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr12:120540600-120544000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
31	chr12:120540600-120544200	Strong transcription	HepG2	liver
32	chr12:120540600-120544400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:120540600-120544400	Strong transcription	Stomach Smooth Muscle	stomach
34	chr12:120540600-120545800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:120540600-120546000	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:120540600-120546400	Weak transcription	Psoas Muscle	Psoas
37	chr12:120540600-120546600	Strong transcription	Fetal Thymus	thymus
38	chr12:120540800-120543600	Strong transcription	Right Ventricle	heart
39	chr12:120540800-120544000	Strong transcription	Brain Angular Gyrus	brain
40	chr12:120540800-120546000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:120540800-120546000	Strong transcription	GM12878-XiMat	blood
42	chr12:120540800-120546200	Weak transcription	Right Atrium	heart
43	chr12:120540800-120546600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr12:120540800-120547200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr12:120541000-120545600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:120541000-120545800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:120541200-120544600	Strong transcription	Adipose Nuclei	Adipose
48	chr12:120541200-120545800	Strong transcription	Lung	lung
49	chr12:120541200-120546000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:120541200-120546000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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