Variant report

Variant	rs2228063
Chromosome Location	chr8:86392989-86392990
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35459374..35461110-chr8:86390877..86393712,2	MCF-7	breast:
2	chr8:86383914..86386781-chr8:86392186..86393964,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10453169	1.00[AMR][1000 genomes]
rs16913908	1.00[AMR][1000 genomes]
rs16913914	1.00[AMR][1000 genomes]
rs58830935	1.00[AMR][1000 genomes]
rs61454267	1.00[AMR][1000 genomes]
rs6605615	1.00[AMR][1000 genomes]
rs6605616	0.87[YRI][hapmap]
rs6605619	1.00[AMR][1000 genomes]
rs6981581	1.00[AMR][1000 genomes]
rs6984587	0.80[AFR][1000 genomes]
rs6985726	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap]
rs6992696	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6994520	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap]
rs6997572	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7001982	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap]
rs7002912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7003233	0.89[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7007330	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs7016508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7815610	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs7819757	1.00[MEX][hapmap]
rs7820842	1.00[AMR][1000 genomes]
rs7827403	0.82[AFR][1000 genomes];1.00[AMR][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	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022463	chr8:86257031-86547831	Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv831377	chr8:86263107-86444141	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1028148	chr8:86310570-86553130	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv2761206	chr8:86310582-86468868	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86377000-86394600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:86377600-86395600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr8:86377600-86399000	Weak transcription	Fetal Heart	heart
4	chr8:86378000-86403000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:86379000-86393000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:86380400-86394800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:86384200-86393200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:86384200-86393400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:86384200-86393400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:86384400-86393600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:86384600-86393000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:86385000-86393400	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr8:86385200-86393600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr8:86385600-86393400	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:86385600-86393400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr8:86386000-86393400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr8:86386600-86393000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:86386600-86393200	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:86386600-86393400	Strong transcription	Liver	Liver
20	chr8:86387000-86393400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:86387000-86393400	Strong transcription	Left Ventricle	heart
22	chr8:86387000-86395200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr8:86387200-86393600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr8:86387200-86395400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:86387200-86403600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr8:86387600-86393200	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:86387600-86393800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:86388000-86393400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:86388200-86393400	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:86388400-86393400	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr8:86388600-86393400	Strong transcription	Brain Angular Gyrus	brain
32	chr8:86388800-86393400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:86389400-86393200	Strong transcription	Colonic Mucosa	Colon
34	chr8:86389400-86393400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:86389400-86393400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:86389600-86402400	Weak transcription	Pancreas	Pancrea
37	chr8:86389800-86393400	Strong transcription	Fetal Lung	lung
38	chr8:86390400-86395200	Weak transcription	Primary B cells from cord blood	blood
39	chr8:86390400-86403400	Weak transcription	Stomach Mucosa	stomach
40	chr8:86390600-86395000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr8:86391000-86393200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:86391000-86393200	Strong transcription	Fetal Stomach	stomach
43	chr8:86391000-86393200	Strong transcription	Gastric	stomach
44	chr8:86391200-86395400	Weak transcription	HMEC	breast
45	chr8:86391400-86393200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr8:86391400-86396000	Weak transcription	Fetal Intestine Small	intestine
47	chr8:86391400-86396400	Weak transcription	Adipose Nuclei	Adipose
48	chr8:86391600-86393400	Strong transcription	Duodenum Mucosa	Duodenum
49	chr8:86391600-86393800	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr8:86391800-86393400	Strong transcription	Brain Anterior Caudate	brain

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