Variant report

Variant	rs73299946
Chromosome Location	chr8:92006768-92006769
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:92004322..92007291-chr8:92051053..92053226,2	K562	blood:
2	chr8:92005218..92006945-chr8:92010241..92012042,2	MCF-7	breast:
3	chr8:92004303..92007415-chr8:92009979..92012206,3	K562	blood:

Variant related genes	Relation type
ENSG00000155099	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10490979	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1060583	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11989738	0.82[EUR][1000 genomes]
rs11994240	0.82[EUR][1000 genomes]
rs16905862	0.82[EUR][1000 genomes]
rs16906071	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16907242	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34503257	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4645524	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55999403	0.89[EUR][1000 genomes]
rs56871170	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58183914	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58624537	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58807337	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59695689	0.86[EUR][1000 genomes]
rs60121972	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471263	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6651175	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006863	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73298014	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73298068	0.82[EUR][1000 genomes]
rs73299912	0.84[EUR][1000 genomes]
rs73299915	0.82[EUR][1000 genomes]
rs73299920	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73299965	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73299977	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73299979	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73299981	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818979	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1028201	chr8:91968527-92009964	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
5	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
6	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
7	esv1851089	chr8:92006663-92038304	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73299946	ENSG00000155099	cis	multi-tissue	Pritchard

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91997800-92026400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:91998000-92019800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:91998200-92007600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:91998200-92007800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:91998200-92007800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:91998200-92007800	Weak transcription	Placenta	Placenta
7	chr8:91998200-92014000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:91998200-92018800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:91998200-92019800	Weak transcription	Left Ventricle	heart
10	chr8:91998200-92026400	Weak transcription	HMEC	breast
11	chr8:91998200-92026800	Weak transcription	Ovary	ovary
12	chr8:91998200-92027000	Weak transcription	Brain Germinal Matrix	brain
13	chr8:91998200-92028800	Weak transcription	HSMMtube	muscle
14	chr8:91998200-92030200	Weak transcription	Aorta	Aorta
15	chr8:91998200-92030200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:91998400-92007800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:91998400-92008200	Weak transcription	Brain Angular Gyrus	brain
18	chr8:91998400-92008400	Weak transcription	Fetal Thymus	thymus
19	chr8:91998400-92008600	Weak transcription	Brain Anterior Caudate	brain
20	chr8:91998400-92011600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:91998400-92011600	Weak transcription	Right Ventricle	heart
22	chr8:91998400-92013600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr8:91998400-92014800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:91998400-92020800	Weak transcription	HUVEC	blood vessel
25	chr8:91998400-92025800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:91998400-92025800	Weak transcription	NHLF	lung
27	chr8:91998400-92026400	Weak transcription	NH-A	brain
28	chr8:91998400-92026600	Weak transcription	Psoas Muscle	Psoas
29	chr8:91998400-92028800	Weak transcription	Fetal Brain Male	brain
30	chr8:91998400-92030200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:91998600-92007000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:91998600-92007000	Weak transcription	NHDF-Ad	bronchial
33	chr8:91998600-92007800	Weak transcription	Primary T cells from cord blood	blood
34	chr8:91998600-92007800	Weak transcription	Adipose Nuclei	Adipose
35	chr8:91998600-92007800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:91998600-92008000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:91998600-92011600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:91998600-92011600	Weak transcription	GM12878-XiMat	blood
39	chr8:91998600-92014800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:91998600-92015800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr8:91998600-92016200	Weak transcription	K562	blood
42	chr8:91998600-92016400	Weak transcription	Fetal Muscle Leg	muscle
43	chr8:91998600-92026400	Weak transcription	Thymus	Thymus
44	chr8:91998600-92027200	Weak transcription	Colon Smooth Muscle	Colon
45	chr8:91998600-92030000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:91998600-92030200	Weak transcription	Fetal Stomach	stomach
47	chr8:91998600-92030200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr8:91998600-92030400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr8:91998800-92007400	Weak transcription	Osteobl	bone
50	chr8:91998800-92015400	Weak transcription	Stomach Smooth Muscle	stomach

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