Variant report

Variant	rs4289846
Chromosome Location	chr8:117651368-117651369
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117651141..117652984-chr8:117663103..117665208,2	K562	blood:
2	chr8:117560071..117561109-chr8:117650453..117651648,4	MCF-7	breast:
3	chr8:117560262..117561076-chr8:117650739..117652053,4	MCF-7	breast:
4	chr8:117650418..117652352-chr8:117657246..117658867,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10085939	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10086419	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10088177	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10093551	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10096134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10105610	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10112279	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10112604	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10505282	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10505286	0.88[ASN][1000 genomes]
rs10505287	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10808484	0.95[ASN][1000 genomes]
rs11781970	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12547058	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1317271	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13258529	0.87[AMR][1000 genomes]
rs13262725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13277714	0.81[AMR][1000 genomes]
rs13277958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1347626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1436765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1436766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1529945	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2118108	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34519652	0.84[AMR][1000 genomes]
rs35338453	0.81[AMR][1000 genomes]
rs35905748	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4256624	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4278180	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4289847	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4335152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4335153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4422805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4472547	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4601347	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4623456	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4629900	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4645587	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55951040	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6469656	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6469657	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6980504	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6983032	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6988841	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7007250	0.81[AMR][1000 genomes]
rs7013617	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7464414	0.82[AMR][1000 genomes]
rs7820778	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7821132	0.90[AFR][1000 genomes]
rs7830860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833054	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7836549	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7843852	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1020480	chr8:117630683-117652448	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117636400-117670800	Weak transcription	Pancreas	Pancrea
2	chr8:117637400-117656600	Weak transcription	Aorta	Aorta
3	chr8:117640600-117662000	Weak transcription	Fetal Brain Female	brain
4	chr8:117641200-117665600	Weak transcription	Fetal Brain Male	brain
5	chr8:117642000-117655800	Weak transcription	Lung	lung
6	chr8:117642400-117654800	Weak transcription	Primary B cells from cord blood	blood
7	chr8:117642400-117656600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:117643800-117655600	Weak transcription	Left Ventricle	heart
9	chr8:117644000-117655400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:117644000-117655600	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:117644000-117655600	Weak transcription	Fetal Stomach	stomach
12	chr8:117644000-117655800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:117644000-117656600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:117644000-117657600	Weak transcription	NHEK	skin
15	chr8:117644600-117655400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:117644800-117656200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:117646600-117656600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:117647200-117677800	Weak transcription	Gastric	stomach
19	chr8:117647600-117654000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:117647600-117658400	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:117647800-117655000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:117648000-117655400	Weak transcription	Primary T cells from cord blood	blood
23	chr8:117648000-117667400	Weak transcription	Fetal Heart	heart
24	chr8:117648800-117655200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr8:117648800-117655200	Weak transcription	GM12878-XiMat	blood
26	chr8:117649000-117670000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:117649000-117670400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:117649200-117655600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:117649400-117655400	Weak transcription	Fetal Thymus	thymus
30	chr8:117649800-117651400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:117650000-117656400	Weak transcription	Brain Germinal Matrix	brain
32	chr8:117650200-117651400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:117650200-117652000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr8:117650400-117658000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:117650400-117665600	Weak transcription	Brain Anterior Caudate	brain
36	chr8:117650400-117666600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:117650600-117655400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:117650600-117655600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:117650600-117658000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:117650600-117662000	Weak transcription	Brain Substantia Nigra	brain
41	chr8:117650600-117662800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:117650800-117651800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr8:117650800-117651800	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr8:117651000-117655200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:117651000-117656400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:117651000-117656600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr8:117651200-117651400	Enhancers	Psoas Muscle	Psoas
48	chr8:117651200-117654000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:117651200-117656000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr8:117651200-117656200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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