Variant report

Variant	rs2066812
Chromosome Location	chr12:56749494-56749495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:56749258-56749532	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56732615..56735568-chr12:56748598..56751443,2	K562	blood:
2	chr12:56748050..56751002-chr12:56753460..56756305,2	K562	blood:
3	chr12:56708835..56710934-chr12:56748959..56750677,2	MCF-7	breast:
4	chr12:56748502..56750410-chr12:56752086..56754336,2	MCF-7	breast:
5	chr12:56732157..56733944-chr12:56748210..56750693,2	K562	blood:
6	chr12:56747914..56751304-chr12:56752091..56755313,3	MCF-7	breast:

No data

Variant related genes	Relation type
RNU7-40P	TF binding region
STAT2	TF binding region
ENSG00000144785	Chromatin interaction
ENSG00000257727	Chromatin interaction
ENSG00000170581	Chromatin interaction
ENSG00000110944	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11834038	1.00[AMR][1000 genomes]
rs11835054	1.00[AMR][1000 genomes]
rs1508211	1.00[AMR][1000 genomes]
rs2271195	1.00[AMR][1000 genomes]
rs35807059	1.00[AMR][1000 genomes]
rs56983027	1.00[AMR][1000 genomes]
rs60419159	1.00[AMR][1000 genomes]
rs61186183	1.00[AMR][1000 genomes]
rs61695444	1.00[AMR][1000 genomes]
rs73338396	1.00[AMR][1000 genomes]
rs73338402	1.00[AMR][1000 genomes]
rs74092004	1.00[AMR][1000 genomes]
rs74092007	1.00[AMR][1000 genomes]
rs74092015	1.00[AMR][1000 genomes]
rs74094520	1.00[AMR][1000 genomes]
rs74094521	1.00[AMR][1000 genomes]
rs74094522	1.00[AMR][1000 genomes]
rs74094539	1.00[AMR][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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 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	chr12:56728800-56752600	Weak transcription	Fetal Heart	heart
2	chr12:56733000-56753200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:56734000-56750800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr12:56734800-56750600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:56734800-56750800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:56734800-56750800	Strong transcription	Fetal Muscle Leg	muscle
7	chr12:56735000-56750200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:56735000-56750400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:56735000-56750400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr12:56735000-56750400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:56735000-56750400	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr12:56735000-56750400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:56735000-56750400	Strong transcription	Adipose Nuclei	Adipose
14	chr12:56735000-56750400	Strong transcription	Brain Hippocampus Middle	brain
15	chr12:56735000-56750800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:56735000-56750800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:56735000-56750800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr12:56735000-56750800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr12:56735000-56750800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:56735000-56750800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:56735000-56750800	Strong transcription	Fetal Muscle Trunk	muscle
22	chr12:56735000-56750800	Strong transcription	Fetal Thymus	thymus
23	chr12:56735200-56750200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:56735200-56750400	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:56735200-56750400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:56735200-56750400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:56735200-56750400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:56735200-56750400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:56735200-56750400	Strong transcription	Brain Anterior Caudate	brain
30	chr12:56735200-56750400	Strong transcription	Placenta	Placenta
31	chr12:56735200-56750600	Strong transcription	Primary B cells from cord blood	blood
32	chr12:56735200-56750800	Strong transcription	Primary T cells from cord blood	blood
33	chr12:56735200-56750800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:56735200-56751400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:56735200-56751800	Strong transcription	Fetal Stomach	stomach
36	chr12:56735800-56750400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:56735800-56750400	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr12:56735800-56750800	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr12:56736000-56750400	Strong transcription	Fetal Intestine Large	intestine
40	chr12:56736000-56750800	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr12:56736200-56750200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:56736200-56750400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr12:56736200-56751800	Strong transcription	Fetal Intestine Small	intestine
44	chr12:56736400-56750000	Strong transcription	Primary hematopoietic stem cells	blood
45	chr12:56736400-56750200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:56736400-56750200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr12:56736400-56750200	Strong transcription	Brain Angular Gyrus	brain
48	chr12:56736400-56750200	Strong transcription	Fetal Lung	lung
49	chr12:56736400-56750200	Strong transcription	Lung	lung
50	chr12:56736400-56750400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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