Variant report

Variant	rs3110525
Chromosome Location	chr8:105525031-105525032
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:105524333..105525366-chr8:105788713..105789634,4	MCF-7	breast:
2	chr8:105524828..105527045-chr8:105784519..105787055,2	K562	blood:
3	chr8:105524477..105525206-chr8:105700421..105701418,2	MCF-7	breast:
4	chr8:105523437..105529379-chr8:105769112..105773532,5	K562	blood:
5	chr8:105524341..105525427-chr8:105788705..105789443,8	MCF-7	breast:
6	chr8:105524416..105525111-chr8:105689111..105690026,3	MCF-7	breast:
7	chr8:105523372..105526382-chr8:105598970..105602701,4	K562	blood:
8	chr8:105524457..105526235-chr8:105771233..105774016,35	MCF-7	breast:
9	chr8:105524885..105525682-chr8:105690457..105691092,3	MCF-7	breast:
10	chr8:105524499..105526205-chr8:105690324..105691789,15	MCF-7	breast:
11	chr8:105524221..105525522-chr8:105771511..105772856,9	MCF-7	breast:
12	chr8:105524484..105525518-chr8:105690525..105692084,13	K562	blood:
13	chr8:105524522..105525381-chr8:105689881..105690424,2	K562	blood:
14	chr8:105524800..105525382-chr8:106784849..106785711,3	MCF-7	breast:
15	chr8:105524890..105525477-chr8:105788741..105789658,6	K562	blood:
16	chr8:105518486..105520827-chr8:105523063..105525599,2	K562	blood:
17	chr8:105524219..105529091-chr8:105598970..105603591,5	K562	blood:
18	chr8:105524454..105525567-chr8:105771506..105772753,15	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253350	Chromatin interaction
ENSG00000147650	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2918074	0.83[AMR][1000 genomes]
rs2918075	0.83[AMR][1000 genomes]
rs2959024	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.87[ASN][1000 genomes]
rs2959025	0.82[CHB][hapmap];0.80[CHD][hapmap]
rs3018436	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3018439	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134531	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3134532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4734804	0.94[CEU][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3110525	LRP12	cis	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105495600-105525800	Weak transcription	Psoas Muscle	Psoas
2	chr8:105499200-105542200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:105503600-105525800	Weak transcription	HUVEC	blood vessel
4	chr8:105503800-105535800	Weak transcription	NHDF-Ad	bronchial
5	chr8:105509600-105535800	Weak transcription	Aorta	Aorta
6	chr8:105510200-105525400	Weak transcription	Primary T cells from cord blood	blood
7	chr8:105510200-105546200	Weak transcription	HMEC	breast
8	chr8:105510400-105539400	Weak transcription	HSMMtube	muscle
9	chr8:105510800-105531000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:105511000-105525800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:105511000-105527200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr8:105511000-105529800	Weak transcription	Fetal Lung	lung
13	chr8:105511200-105525200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:105511600-105525600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:105511600-105525600	Weak transcription	GM12878-XiMat	blood
16	chr8:105511800-105527000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:105511800-105532600	Weak transcription	HSMM	muscle
18	chr8:105511800-105550200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:105512800-105542000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:105512800-105550200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:105514800-105529200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:105515000-105525600	Weak transcription	Left Ventricle	heart
23	chr8:105515000-105525600	Weak transcription	Thymus	Thymus
24	chr8:105515200-105525200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:105515200-105542400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:105517600-105527000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:105517800-105525200	Weak transcription	Fetal Thymus	thymus
28	chr8:105519800-105534400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:105520000-105525200	Weak transcription	K562	blood
30	chr8:105520200-105528400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr8:105520400-105525200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:105520400-105525200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:105520400-105534800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:105520600-105537400	Weak transcription	NH-A	brain
35	chr8:105520800-105536600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:105521000-105540000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:105521400-105525200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:105521400-105540000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:105521800-105568800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:105522000-105525200	Weak transcription	Dnd41	blood
41	chr8:105524600-105525400	Enhancers	NHLF	lung
42	chr8:105524800-105525200	Weak transcription	Osteobl	bone
43	chr8:105524800-105525400	Enhancers	Brain Anterior Caudate	brain

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