Variant report

Variant	rs12072364
Chromosome Location	chr1:150034423-150034424
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:149975324..149977331-chr1:150032662..150034472,2	MCF-7	breast:
2	chr1:150033546..150035301-chr1:150123056..150125109,2	K562	blood:
3	chr1:150027925..150032582-chr1:150032961..150038144,5	K562	blood:
4	chr1:149855827..149861924-chr1:150032527..150042362,32	MCF-7	breast:
5	chr1:150033022..150034757-chr1:150094327..150096253,2	MCF-7	breast:
6	chr1:149857400..149861626-chr1:150030764..150036830,9	MCF-7	breast:
7	chr1:149899999..149901713-chr1:150034226..150036784,2	MCF-7	breast:
8	chr1:150023241..150025135-chr1:150032252..150034875,2	K562	blood:
9	chr1:149855739..149863622-chr1:150034266..150042059,13	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143368	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000178096	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12059874	1.00[ASW][hapmap];0.82[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap]
rs12061565	0.81[AFR][1000 genomes]
rs12063329	1.00[ASW][hapmap];0.82[LWK][hapmap];0.80[MKK][hapmap];1.00[YRI][hapmap]
rs12069886	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12074281	0.85[AFR][1000 genomes]
rs7540847	0.85[AFR][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	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases
2	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12072364	ENSA	cis	lymphoblastoid	seeQTL
rs12072364	FAM78B	trans	lymphoblastoid	seeQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149996600-150037000	Weak transcription	Left Ventricle	heart
2	chr1:150017600-150037600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:150018200-150038600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:150022800-150037200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:150022800-150038600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:150031800-150036400	Weak transcription	Ovary	ovary
7	chr1:150032600-150037800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:150032800-150038600	Weak transcription	Fetal Intestine Small	intestine
9	chr1:150033600-150034600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:150033800-150038800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:150034000-150036800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:150034000-150037000	Weak transcription	HSMMtube	muscle
13	chr1:150034000-150038600	Weak transcription	Right Atrium	heart
14	chr1:150034200-150036600	Weak transcription	Brain Germinal Matrix	brain
15	chr1:150034200-150037000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:150034200-150037000	Weak transcription	NH-A	brain
17	chr1:150034200-150037200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:150034200-150037200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:150034200-150037200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:150034200-150037200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:150034200-150037200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:150034200-150037200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:150034200-150037200	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:150034200-150037200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:150034200-150037200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:150034200-150037200	Weak transcription	K562	blood
27	chr1:150034200-150037200	Weak transcription	Osteobl	bone
28	chr1:150034200-150037400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:150034200-150037600	Weak transcription	HMEC	breast
30	chr1:150034200-150038000	Weak transcription	Stomach Mucosa	stomach
31	chr1:150034200-150038000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:150034200-150038600	Weak transcription	Brain Anterior Caudate	brain
33	chr1:150034200-150038600	Weak transcription	Fetal Stomach	stomach
34	chr1:150034400-150036800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:150034400-150037000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:150034400-150037000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:150034400-150037000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:150034400-150037000	Weak transcription	NHEK	skin
39	chr1:150034400-150037000	Weak transcription	NHLF	lung
40	chr1:150034400-150037200	Weak transcription	NHDF-Ad	bronchial
41	chr1:150034400-150038200	Weak transcription	Fetal Kidney	kidney
42	chr1:150034400-150038600	Weak transcription	Fetal Thymus	thymus

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