Variant report

Variant	rs4326894
Chromosome Location	chr12:117257676-117257677
allele	G/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:117257077..117258858-chr12:117263780..117265959,2	K562	blood:
2	chr12:117245789..117252962-chr12:117254340..117258603,11	K562	blood:
3	chr12:117255729..117257748-chr12:117292292..117294428,2	MCF-7	breast:
4	chr12:117249993..117252950-chr12:117255244..117258293,4	MCF-7	breast:
5	chr12:117255625..117260515-chr12:117260953..117265280,7	K562	blood:
6	chr12:117251777..117254967-chr12:117255465..117258181,5	MCF-7	breast:
7	chr12:117211331..117213827-chr12:117255904..117257677,2	MCF-7	breast:
8	chr12:117256194..117258778-chr12:117314042..117315845,3	MCF-7	breast:
9	chr12:117255957..117259131-chr12:117261216..117264613,4	MCF-7	breast:
10	chr12:117206430..117208950-chr12:117256822..117258508,2	MCF-7	breast:
11	chr12:117256689..117258680-chr12:117270250..117272345,2	MCF-7	breast:

No data

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10735097	0.83[EUR][1000 genomes]
rs10735098	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774890	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850720	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10850722	0.82[EUR][1000 genomes]
rs10850723	0.83[EUR][1000 genomes]
rs1495933	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2393107	0.83[EUR][1000 genomes]
rs4238048	0.83[EUR][1000 genomes]
rs4480639	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767454	0.83[EUR][1000 genomes]
rs4767457	0.93[EUR][1000 genomes]
rs4767458	0.83[EUR][1000 genomes]
rs6490093	0.83[EUR][1000 genomes]
rs7313014	0.81[ASN][1000 genomes]
rs7315763	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs924072	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs924075	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs924078	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs987560	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117256200-117257800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:117256200-117257800	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr12:117256200-117257800	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr12:117256200-117258000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr12:117256400-117257800	Active TSS	HSMMtube	muscle
6	chr12:117256600-117257800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:117256600-117257800	Active TSS	Brain Substantia Nigra	brain
8	chr12:117256600-117258200	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr12:117256800-117257800	Active TSS	H1 Cell Line	embryonic stem cell
10	chr12:117256800-117257800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr12:117256800-117257800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:117256800-117257800	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr12:117256800-117257800	Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr12:117256800-117257800	Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr12:117256800-117257800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:117256800-117257800	Active TSS	Brain Anterior Caudate	brain
17	chr12:117256800-117257800	Active TSS	Brain Hippocampus Middle	brain
18	chr12:117256800-117257800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:117256800-117257800	Active TSS	Colon Smooth Muscle	Colon
20	chr12:117256800-117257800	Active TSS	Fetal Brain Male	brain
21	chr12:117256800-117257800	Active TSS	Fetal Brain Female	brain
22	chr12:117256800-117257800	Active TSS	Fetal Intestine Small	intestine
23	chr12:117256800-117257800	Active TSS	Psoas Muscle	Psoas
24	chr12:117256800-117257800	Active TSS	Rectal Smooth Muscle	rectum
25	chr12:117256800-117257800	Active TSS	Right Ventricle	heart
26	chr12:117256800-117257800	Active TSS	A549	lung
27	chr12:117256800-117257800	Active TSS	HepG2	liver
28	chr12:117256800-117257800	Active TSS	NHLF	lung
29	chr12:117256800-117258000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:117256800-117258000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:117256800-117258000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:117256800-117258200	Active TSS	Brain Cingulate Gyrus	brain
33	chr12:117257000-117257800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:117257000-117257800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:117257000-117257800	Active TSS	Primary T cells fromperipheralblood	blood
36	chr12:117257000-117257800	Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr12:117257000-117257800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:117257000-117257800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:117257000-117257800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr12:117257000-117257800	Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr12:117257000-117257800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:117257000-117257800	Active TSS	Muscle Satellite Cultured Cells	--
43	chr12:117257000-117257800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:117257000-117257800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:117257000-117257800	Active TSS	Adipose Nuclei	Adipose
46	chr12:117257000-117257800	Active TSS	Brain Angular Gyrus	brain
47	chr12:117257000-117257800	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr12:117257000-117257800	Active TSS	Duodenum Mucosa	Duodenum
49	chr12:117257000-117257800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr12:117257000-117257800	Active TSS	Fetal Heart	heart

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