Variant report

Variant	rs8041293
Chromosome Location	chr15:40674217-40674218
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:40674199-40674315	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40674190..40678981-chr15:40695777..40699659,7	MCF-7	breast:
2	chr15:40660534..40665869-chr15:40673827..40676646,4	K562	blood:

Variant related genes	Relation type
KNSTRN	TF binding region
ENSG00000259368	Chromatin interaction
ENSG00000128928	Chromatin interaction
ENSG00000140323	Chromatin interaction
ENSG00000259714	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17671250	0.87[YRI][hapmap];0.88[AFR][1000 genomes]
rs58467866	1.00[AMR][1000 genomes]
rs61298638	0.81[AFR][1000 genomes]
rs73383108	0.83[AFR][1000 genomes]
rs73397399	1.00[AMR][1000 genomes]
rs73399311	1.00[AMR][1000 genomes]
rs8033668	0.83[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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40660800-40674800	Weak transcription	Esophagus	oesophagus
2	chr15:40661200-40674800	Weak transcription	Fetal Brain Male	brain
3	chr15:40661600-40674600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr15:40663200-40674800	Weak transcription	Brain Germinal Matrix	brain
5	chr15:40665200-40674800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:40665200-40674800	Weak transcription	Fetal Brain Female	brain
7	chr15:40665400-40674800	Weak transcription	Fetal Lung	lung
8	chr15:40668000-40674600	Weak transcription	Thymus	Thymus
9	chr15:40670000-40674800	Weak transcription	Aorta	Aorta
10	chr15:40671600-40674800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr15:40671800-40674800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:40671800-40674800	Weak transcription	Psoas Muscle	Psoas
13	chr15:40672200-40674800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr15:40672200-40674800	Weak transcription	Left Ventricle	heart
15	chr15:40672400-40674400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr15:40672400-40674800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr15:40672400-40674800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:40672400-40674800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr15:40672400-40674800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:40672400-40674800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:40672400-40674800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr15:40672400-40674800	Weak transcription	Gastric	stomach
23	chr15:40672400-40674800	Weak transcription	Spleen	Spleen
24	chr15:40672600-40674600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr15:40672600-40674600	Weak transcription	Adipose Nuclei	Adipose
26	chr15:40672600-40674600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr15:40672600-40674600	Weak transcription	Fetal Heart	heart
28	chr15:40672600-40674600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr15:40672600-40674600	Weak transcription	Osteobl	bone
30	chr15:40672600-40674800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr15:40672600-40674800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:40672600-40674800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr15:40672600-40674800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr15:40672600-40674800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr15:40672600-40674800	Weak transcription	NH-A	brain
36	chr15:40672600-40675000	Weak transcription	HUVEC	blood vessel
37	chr15:40672800-40674600	Weak transcription	Placenta	Placenta
38	chr15:40672800-40674600	Weak transcription	NHLF	lung
39	chr15:40672800-40674800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:40672800-40674800	Weak transcription	Stomach Mucosa	stomach
41	chr15:40673000-40674400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr15:40673000-40674600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:40673000-40674600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr15:40673000-40674600	Weak transcription	Fetal Muscle Leg	muscle
45	chr15:40673000-40674800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:40673000-40674800	Weak transcription	HSMM	muscle
47	chr15:40673200-40674400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr15:40673200-40674400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr15:40673200-40674400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:40673200-40674600	Weak transcription	HSMMtube	muscle

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