Variant report

Variant	rs4549728
Chromosome Location	chr8:92046783-92046784
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:

Variant related genes	Relation type
ENSG00000155099	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10106732	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111737	0.82[TSI][hapmap]
rs12545269	0.87[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28542498	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34213675	0.95[ASN][1000 genomes]
rs34250051	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4582514	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60835352	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016498	0.83[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7016665	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7016813	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016960	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7017271	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7341609	0.86[GIH][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs7829199	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7846412	0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4549728	INTS8	cis	cerebellum	SCAN
rs4549728	RUNX1T1	cis	cerebellum	SCAN

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	chr8:92032200-92051800	Weak transcription	Thymus	Thymus
11	chr8:92032200-92052200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:92032200-92052200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr8:92032200-92052200	Weak transcription	Fetal Stomach	stomach
14	chr8:92032400-92050800	Weak transcription	Fetal Lung	lung
15	chr8:92032400-92051800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:92032600-92049000	Weak transcription	Dnd41	blood
17	chr8:92033200-92048600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:92034200-92051000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr8:92037600-92051400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr8:92039800-92048600	Weak transcription	HSMMtube	muscle
21	chr8:92040200-92049400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr8:92040200-92051400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:92040200-92052200	Weak transcription	HSMM	muscle
24	chr8:92040400-92048400	Weak transcription	NHDF-Ad	bronchial
25	chr8:92040400-92049200	Weak transcription	NHLF	lung
26	chr8:92040400-92049400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:92040400-92049400	Weak transcription	Osteobl	bone
28	chr8:92040400-92050200	Weak transcription	A549	lung
29	chr8:92040400-92051800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:92040600-92049000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:92040600-92051200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:92040600-92051400	Weak transcription	NHEK	skin
33	chr8:92040800-92051400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:92040800-92052400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:92041000-92047800	Weak transcription	K562	blood
36	chr8:92041400-92051800	Weak transcription	Fetal Thymus	thymus
37	chr8:92042000-92049000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:92044000-92048000	Enhancers	Colon Smooth Muscle	Colon
39	chr8:92044200-92047000	Enhancers	Psoas Muscle	Psoas
40	chr8:92044200-92047200	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr8:92044200-92051800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr8:92044400-92046800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr8:92045000-92047000	Enhancers	Brain Hippocampus Middle	brain
44	chr8:92045400-92047200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr8:92045400-92047200	Enhancers	Stomach Smooth Muscle	stomach
46	chr8:92045400-92047400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr8:92045400-92047800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr8:92045400-92050400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:92045400-92050400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr8:92045600-92046800	Enhancers	Primary T helper cells fromperipheralblood	blood

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