Variant report

Variant	rs71452005
Chromosome Location	chr12:26267577-26267578
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:26266991..26268524-chr12:26793832..26795703,2	MCF-7	breast:
2	chr12:26267272..26269559-chr12:26803313..26806107,3	MCF-7	breast:
3	chr12:26265885..26268000-chr12:26325452..26327624,2	K562	blood:
4	chr12:26266368..26268567-chr12:26426374..26428182,2	MCF-7	breast:
5	chr12:26266140..26268120-chr12:26569477..26571454,2	MCF-7	breast:
6	chr12:26240929..26244393-chr12:26265760..26268742,3	MCF-7	breast:
7	chr12:26267001..26268720-chr12:26276171..26278000,2	K562	blood:
8	chr12:26266900..26267703-chr7:6120977..6121497,2	NB4	blood:
9	chr12:26265973..26268501-chr12:26274861..26277671,2	K562	blood:
10	chr12:26252565..26258898-chr12:26263969..26269269,10	MCF-7	breast:
11	chr12:26265923..26267917-chr12:26426739..26429196,2	K562	blood:
12	chr12:26252876..26255008-chr12:26267017..26268657,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000123096	Chromatin interaction
ENSG00000123095	Chromatin interaction
ENSG00000231704	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1059303	1.00[ASN][1000 genomes]
rs12811394	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12825505	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34815301	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4963955	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[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	nsv898932	chr12:26262137-26283482	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv898933	chr12:26262137-26285006	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr12:26265600-26267600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:26265600-26267800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr12:26265800-26267600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr12:26266200-26267600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:26266200-26267800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:26266200-26268000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:26266400-26267600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr12:26266400-26267600	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr12:26266400-26267800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:26266400-26267800	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr12:26266400-26267800	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr12:26266400-26267800	Flanking Active TSS	Dnd41	blood
13	chr12:26266400-26267800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr12:26266600-26267600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr12:26266600-26267600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:26266600-26267600	Active TSS	Brain Anterior Caudate	brain
17	chr12:26266600-26267600	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr12:26266600-26267800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:26266600-26267800	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr12:26266600-26267800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr12:26266600-26267800	Active TSS	Brain Angular Gyrus	brain
22	chr12:26266600-26267800	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr12:26266600-26267800	Active TSS	Psoas Muscle	Psoas
24	chr12:26266600-26268000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:26266600-26268000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:26266600-26268000	Active TSS	Fetal Kidney	kidney
27	chr12:26266600-26268000	Active TSS	Right Atrium	heart
28	chr12:26266600-26268000	Active TSS	Right Ventricle	heart
29	chr12:26266600-26268000	Flanking Active TSS	HMEC	breast
30	chr12:26266800-26267600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:26266800-26267600	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr12:26266800-26267600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:26266800-26267600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:26266800-26267600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:26266800-26267600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:26266800-26267600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr12:26266800-26267600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr12:26266800-26267600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:26266800-26267600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:26266800-26267600	Active TSS	Brain Hippocampus Middle	brain
41	chr12:26266800-26267600	Active TSS	Colonic Mucosa	Colon
42	chr12:26266800-26267600	Active TSS	Colon Smooth Muscle	Colon
43	chr12:26266800-26267600	Bivalent/Poised TSS	Fetal Brain Female	brain
44	chr12:26266800-26267600	Bivalent/Poised TSS	Fetal Stomach	stomach
45	chr12:26266800-26267600	Active TSS	Left Ventricle	heart
46	chr12:26266800-26267600	Enhancers	Stomach Mucosa	stomach
47	chr12:26266800-26267600	Active TSS	A549	lung
48	chr12:26266800-26267800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:26266800-26267800	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr12:26266800-26267800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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