Variant report

Variant	rs12334578
Chromosome Location	chr8:95478931-95478932
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	chr8:95475669..95479666-chr8:95485305..95487401,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197275	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10086307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10086311	0.96[EUR][1000 genomes]
rs10087221	0.96[EUR][1000 genomes]
rs10089982	0.96[EUR][1000 genomes]
rs10090029	0.96[EUR][1000 genomes]
rs10090628	1.00[EUR][1000 genomes]
rs10093542	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10094155	0.96[EUR][1000 genomes]
rs10094298	0.96[EUR][1000 genomes]
rs10094477	0.96[EUR][1000 genomes]
rs10095474	0.96[EUR][1000 genomes]
rs10095883	0.96[EUR][1000 genomes]
rs10097107	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10098298	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10098682	0.92[EUR][1000 genomes]
rs10102139	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10103436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104301	0.96[EUR][1000 genomes]
rs10104797	1.00[EUR][1000 genomes]
rs10105476	0.96[EUR][1000 genomes]
rs10106455	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10110389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10111251	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10111789	0.84[AMR][1000 genomes]
rs10217108	0.92[EUR][1000 genomes]
rs10441536	0.96[EUR][1000 genomes]
rs10441537	0.92[EUR][1000 genomes]
rs1055798	0.96[EUR][1000 genomes]
rs12334369	0.96[EUR][1000 genomes]
rs12334783	0.96[EUR][1000 genomes]
rs12334844	0.96[EUR][1000 genomes]
rs12334990	0.96[EUR][1000 genomes]
rs12335104	0.96[EUR][1000 genomes]
rs13438933	0.96[EUR][1000 genomes]
rs13438940	0.96[EUR][1000 genomes]
rs13439154	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13439558	0.96[EUR][1000 genomes]
rs13439676	0.96[EUR][1000 genomes]
rs2119461	0.96[EUR][1000 genomes]
rs2381883	0.96[EUR][1000 genomes]
rs28386976	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28397924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28406352	0.96[EUR][1000 genomes]
rs28409018	0.96[EUR][1000 genomes]
rs28420254	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28436849	0.96[EUR][1000 genomes]
rs28449797	0.92[EUR][1000 genomes]
rs28475734	0.96[EUR][1000 genomes]
rs28480604	0.96[EUR][1000 genomes]
rs28481457	0.96[EUR][1000 genomes]
rs28498495	0.96[EUR][1000 genomes]
rs28502182	0.96[EUR][1000 genomes]
rs28524089	0.96[EUR][1000 genomes]
rs28526027	0.96[EUR][1000 genomes]
rs28539788	0.92[EUR][1000 genomes]
rs28542193	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28563951	0.96[EUR][1000 genomes]
rs28564036	0.96[EUR][1000 genomes]
rs28572173	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28608052	1.00[EUR][1000 genomes]
rs28634264	0.96[EUR][1000 genomes]
rs28666401	0.96[EUR][1000 genomes]
rs28681034	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28775004	0.96[EUR][1000 genomes]
rs28805925	0.96[EUR][1000 genomes]
rs28829590	0.96[EUR][1000 genomes]
rs28848914	0.92[EUR][1000 genomes]
rs28897138	0.84[AMR][1000 genomes]
rs3136421	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4567002	0.96[EUR][1000 genomes]
rs56859277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57897120	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6998829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695616	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695617	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695619	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695620	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695622	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695624	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73698013	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8117	0.96[EUR][1000 genomes]
rs9297938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv1835971	chr8:95467241-95490541	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95449400-95485200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:95449400-95486200	Weak transcription	Fetal Muscle Leg	muscle
3	chr8:95449800-95479600	Weak transcription	NH-A	brain
4	chr8:95450000-95486000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr8:95450200-95480000	Weak transcription	NHEK	skin
6	chr8:95450400-95479800	Weak transcription	HMEC	breast
7	chr8:95450600-95484800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:95454000-95485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:95454200-95485400	Weak transcription	Fetal Intestine Small	intestine
10	chr8:95455400-95485000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:95455600-95486200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:95460000-95485000	Weak transcription	HepG2	liver
13	chr8:95462000-95486400	Weak transcription	Primary B cells from cord blood	blood
14	chr8:95464400-95479800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:95464400-95485800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr8:95465200-95480600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:95468000-95480400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:95468000-95485200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr8:95468400-95479800	Weak transcription	Primary T cells from cord blood	blood
20	chr8:95468600-95485800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:95468800-95479800	Weak transcription	NHDF-Ad	bronchial
22	chr8:95468800-95484800	Weak transcription	Fetal Lung	lung
23	chr8:95469000-95485600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:95469000-95486000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:95469200-95479800	Weak transcription	Osteobl	bone
26	chr8:95470200-95479200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:95470400-95479800	Weak transcription	HSMM	muscle
28	chr8:95470600-95485800	Weak transcription	Fetal Thymus	thymus
29	chr8:95471000-95480600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:95471600-95480600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:95472200-95480800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:95472400-95486400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr8:95472800-95486600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:95473000-95480000	Strong transcription	A549	lung
35	chr8:95473800-95480400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr8:95474800-95486200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr8:95475200-95486800	Weak transcription	Gastric	stomach
38	chr8:95475600-95480600	Strong transcription	Dnd41	blood
39	chr8:95475800-95480200	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr8:95475800-95480200	Weak transcription	Fetal Intestine Large	intestine
41	chr8:95475800-95486800	Weak transcription	Aorta	Aorta
42	chr8:95476000-95480000	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr8:95476200-95479800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr8:95476200-95479800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:95476200-95480600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr8:95476200-95486200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:95476400-95479400	Strong transcription	Thymus	Thymus
48	chr8:95476400-95480000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:95476400-95480200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:95476400-95480600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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