Variant report

Variant	rs3019182
Chromosome Location	chr8:95913590-95913591
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:95913233-95913762	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:95911771..95913789-chr8:95918971..95920628,2	MCF-7	breast:
2	chr8:95913314..95915827-chr8:95931022..95933426,2	MCF-7	breast:
3	chr8:95912921..95914635-chr8:95916229..95918499,2	MCF-7	breast:
4	chr8:95911691..95914398-chr8:95917763..95919672,2	K562	blood:
5	chr8:95910895..95913798-chr8:95915630..95917632,3	K562	blood:

Variant related genes	Relation type
CCNE2	TF binding region
ENSG00000238791	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10091683	0.88[EUR][1000 genomes]
rs10956928	0.90[ASN][1000 genomes]
rs10956929	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10956930	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956931	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956932	0.87[ASN][1000 genomes]
rs12541035	0.95[ASN][1000 genomes]
rs12545596	0.90[ASN][1000 genomes]
rs12548367	0.99[ASN][1000 genomes]
rs12548999	0.99[ASN][1000 genomes]
rs12550765	0.90[EUR][1000 genomes]
rs12677346	0.87[EUR][1000 genomes]
rs2123647	0.99[ASN][1000 genomes]
rs2278891	0.90[EUR][1000 genomes]
rs2340583	0.85[ASN][1000 genomes]
rs2924477	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2924478	0.82[ASN][1000 genomes]
rs2945554	0.95[ASN][1000 genomes]
rs2945563	0.91[ASN][1000 genomes]
rs2956216	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019175	0.87[ASN][1000 genomes]
rs34293080	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4570121	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4735310	0.89[EUR][1000 genomes]
rs4735312	0.90[EUR][1000 genomes]
rs4735328	0.87[EUR][1000 genomes]
rs4735329	0.96[ASN][1000 genomes]
rs4735330	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4735331	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4735332	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs477653	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs535322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs550418	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs550564	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551270	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61537129	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471497	0.89[EUR][1000 genomes]
rs6471498	0.90[EUR][1000 genomes]
rs6471500	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6471501	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs683832	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983000	0.93[ASN][1000 genomes]
rs6987256	0.93[ASN][1000 genomes]
rs6987400	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7001535	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7005317	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7013163	0.81[EUR][1000 genomes]
rs7015841	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7017487	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7820818	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7839728	0.88[EUR][1000 genomes]
rs9643350	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9643351	0.99[ASN][1000 genomes]
rs9643352	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv891203	chr8:95883232-95948202	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv891204	chr8:95883232-95965135	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95909400-95916800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr8:95909400-95917200	Weak transcription	Fetal Intestine Small	intestine
3	chr8:95909400-95917600	Weak transcription	Pancreas	Pancrea
4	chr8:95909400-95918000	Weak transcription	Gastric	stomach
5	chr8:95909400-95920800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:95909400-95932600	Weak transcription	Esophagus	oesophagus
7	chr8:95909400-95939000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr8:95909400-95941000	Weak transcription	Ovary	ovary
9	chr8:95909400-95941200	Weak transcription	Fetal Stomach	stomach
10	chr8:95909600-95917800	Weak transcription	Stomach Mucosa	stomach
11	chr8:95909600-95920600	Weak transcription	Brain Angular Gyrus	brain
12	chr8:95909600-95937000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:95909600-95938400	Weak transcription	Primary T cells from cord blood	blood
14	chr8:95909600-95941800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr8:95909800-95930400	Weak transcription	Fetal Brain Female	brain
16	chr8:95909800-95940600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:95910000-95913800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:95910000-95940200	Weak transcription	Thymus	Thymus
19	chr8:95910400-95917200	Weak transcription	Fetal Thymus	thymus
20	chr8:95910400-95918200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:95910800-95916800	Weak transcription	Dnd41	blood
22	chr8:95910800-95931600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:95910800-95940200	Weak transcription	Hela-S3	cervix
24	chr8:95911000-95913800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:95911800-95913600	Enhancers	Brain Germinal Matrix	brain
26	chr8:95912800-95913600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr8:95912800-95913600	Enhancers	K562	blood
28	chr8:95913200-95913600	Enhancers	Fetal Brain Male	brain
29	chr8:95913400-95915400	Weak transcription	Primary hematopoietic stem cells	blood

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