Variant report

Variant	rs12375263
Chromosome Location	chr8:92045726-92045727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:92045530..92047811-chr8:92073274..92075282,2	MCF-7	breast:
2	chr8:92033974..92036558-chr8:92045373..92047706,2	K562	blood:
3	chr8:92041183..92047708-chr8:92048754..92054667,8	MCF-7	breast:
4	chr8:92041136..92044367-chr8:92045301..92047451,3	K562	blood:
5	chr8:90917104..90918910-chr8:92044732..92046540,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155099	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10096420	1.00[CEU][hapmap];0.86[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13248502	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs13254176	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs13259915	1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs13262428	0.81[EUR][1000 genomes]
rs13265723	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs13268588	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs13269704	0.81[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs13270682	0.81[EUR][1000 genomes]
rs13277179	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs13278451	0.81[EUR][1000 genomes]
rs13279087	0.81[EUR][1000 genomes]
rs13279629	0.81[EUR][1000 genomes]
rs13281102	0.81[EUR][1000 genomes]
rs34052615	0.81[EUR][1000 genomes]
rs34811059	0.81[EUR][1000 genomes]
rs34917704	0.85[EUR][1000 genomes]
rs35193292	0.81[EUR][1000 genomes]
rs35204946	0.81[EUR][1000 genomes]
rs35234461	0.81[EUR][1000 genomes]
rs35716905	0.81[EUR][1000 genomes]
rs35858946	0.81[EUR][1000 genomes]
rs35913126	0.81[EUR][1000 genomes]
rs36057933	0.81[EUR][1000 genomes]
rs4467904	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61003561	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999873	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71528764	0.81[EUR][1000 genomes]
rs71528766	0.81[EUR][1000 genomes]
rs71528767	0.81[EUR][1000 genomes]
rs71528768	0.81[EUR][1000 genomes]
rs71528769	0.81[EUR][1000 genomes]
rs71528773	0.81[EUR][1000 genomes]
rs71528780	0.81[EUR][1000 genomes]
rs73299992	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301705	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301707	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv891185	chr8:91923776-92056288	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv831390	chr8:92037011-92198605	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92015800-92052200	Weak transcription	Pancreas	Pancrea
2	chr8:92028200-92049200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:92029400-92049400	Weak transcription	Fetal Brain Male	brain
4	chr8:92029600-92051000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr8:92030800-92049400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:92030800-92052400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:92030800-92052400	Weak transcription	Lung	lung
8	chr8:92031000-92050800	Weak transcription	Fetal Brain Female	brain
9	chr8:92031200-92047200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:92031400-92046400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr8:92032000-92046600	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:92032200-92051800	Weak transcription	Thymus	Thymus
13	chr8:92032200-92052200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:92032200-92052200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:92032200-92052200	Weak transcription	Fetal Stomach	stomach
16	chr8:92032400-92050800	Weak transcription	Fetal Lung	lung
17	chr8:92032400-92051800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:92032600-92049000	Weak transcription	Dnd41	blood
19	chr8:92032800-92045800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:92033200-92048600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:92033400-92046600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:92034200-92051000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr8:92037600-92046600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:92037600-92051400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr8:92039600-92045800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:92039800-92048600	Weak transcription	HSMMtube	muscle
27	chr8:92040200-92046600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:92040200-92049400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr8:92040200-92051400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:92040200-92052200	Weak transcription	HSMM	muscle
31	chr8:92040400-92046200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:92040400-92048400	Weak transcription	NHDF-Ad	bronchial
33	chr8:92040400-92049200	Weak transcription	NHLF	lung
34	chr8:92040400-92049400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:92040400-92049400	Weak transcription	Osteobl	bone
36	chr8:92040400-92050200	Weak transcription	A549	lung
37	chr8:92040400-92051800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:92040600-92046200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr8:92040600-92049000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:92040600-92051200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:92040600-92051400	Weak transcription	NHEK	skin
42	chr8:92040800-92051400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:92040800-92052400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr8:92041000-92047800	Weak transcription	K562	blood
45	chr8:92041400-92051800	Weak transcription	Fetal Thymus	thymus
46	chr8:92042000-92045800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:92042000-92046000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr8:92042000-92046200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr8:92042000-92046200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr8:92042000-92049000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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