Variant report

Variant	rs7016813
Chromosome Location	chr8:92050774-92050775
allele	G/T
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	chr8:92049693..92055107-chr8:92080246..92084828,10	MCF-7	breast:
2	chr8:91994028..91996763-chr8:92049752..92051452,2	K562	blood:
3	chr8:92049046..92052958-chr8:92080272..92084206,7	K562	blood:
4	chr8:91995673..92001053-chr8:92048725..92054416,11	K562	blood:
5	chr8:92050064..92053786-chr8:92080232..92083900,8	K562	blood:
6	chr8:92038726..92040802-chr8:92047935..92051520,5	K562	blood:
7	chr8:92027926..92030043-chr8:92049741..92052718,2	MCF-7	breast:
8	chr8:92048685..92051224-chr8:92051536..92053933,2	MCF-7	breast:
9	chr8:92050053..92052578-chr8:92077744..92079246,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253250	Chromatin interaction
ENSG00000253358	Chromatin interaction
ENSG00000253738	Chromatin interaction
ENSG00000155100	Chromatin interaction
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	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];0.93[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]
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]
rs4549728	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]
rs4582514	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60835352	0.91[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]
rs7016960	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7017271	1.00[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
rs7016813	RUNX1T1	cis	cerebellum	SCAN
rs7016813	INTS8	cis	cerebellum	SCAN

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92015800-92052200	Weak transcription	Pancreas	Pancrea
2	chr8:92029600-92051000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr8:92030800-92052400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:92030800-92052400	Weak transcription	Lung	lung
5	chr8:92031000-92050800	Weak transcription	Fetal Brain Female	brain
6	chr8:92032200-92051800	Weak transcription	Thymus	Thymus
7	chr8:92032200-92052200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:92032200-92052200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:92032200-92052200	Weak transcription	Fetal Stomach	stomach
10	chr8:92032400-92050800	Weak transcription	Fetal Lung	lung
11	chr8:92032400-92051800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:92034200-92051000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr8:92037600-92051400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr8:92040200-92051400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:92040200-92052200	Weak transcription	HSMM	muscle
16	chr8:92040400-92051800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:92040600-92051200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:92040600-92051400	Weak transcription	NHEK	skin
19	chr8:92040800-92051400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:92040800-92052400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:92041400-92051800	Weak transcription	Fetal Thymus	thymus
22	chr8:92044200-92051800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr8:92045800-92052400	Weak transcription	Gastric	stomach
24	chr8:92046000-92051400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr8:92047000-92051400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:92047000-92051800	Weak transcription	Right Atrium	heart
27	chr8:92047000-92052200	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:92047000-92052200	Weak transcription	Left Ventricle	heart
29	chr8:92047000-92052400	Weak transcription	Small Intestine	intestine
30	chr8:92047200-92050800	Weak transcription	Brain Substantia Nigra	brain
31	chr8:92047200-92051400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr8:92047200-92052200	Weak transcription	Fetal Heart	heart
33	chr8:92047600-92051400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:92047800-92051000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr8:92047800-92051200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr8:92048200-92051400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr8:92048200-92052400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:92048400-92050800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:92048400-92050800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:92048400-92051000	Enhancers	Brain Angular Gyrus	brain
41	chr8:92048400-92052400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr8:92048600-92051000	Enhancers	Adipose Nuclei	Adipose
43	chr8:92048800-92050800	Enhancers	Brain Hippocampus Middle	brain
44	chr8:92048800-92052200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr8:92049000-92050800	Enhancers	Brain Cingulate Gyrus	brain
46	chr8:92049000-92051000	Enhancers	Dnd41	blood
47	chr8:92049000-92051400	Enhancers	Colon Smooth Muscle	Colon
48	chr8:92049000-92051600	Enhancers	Brain Anterior Caudate	brain
49	chr8:92049000-92052200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr8:92049000-92052600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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