Variant report

Variant	rs58844095
Chromosome Location	chr19:40468544-40468545
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	chr19:40467450..40469532-chr19:40475454..40478354,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000013275	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10406738	0.80[ASN][1000 genomes]
rs10417013	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10417043	0.85[ASN][1000 genomes]
rs10418196	0.83[ASN][1000 genomes]
rs11542840	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16973950	0.80[ASN][1000 genomes]
rs170901	0.82[ASN][1000 genomes]
rs173061	0.85[ASN][1000 genomes]
rs17796769	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17796901	0.82[ASN][1000 genomes]
rs183504	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs186801	0.85[ASN][1000 genomes]
rs2111543	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2111544	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2231737	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs234301	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs234302	0.82[ASN][1000 genomes]
rs234304	0.80[ASN][1000 genomes]
rs234306	0.80[ASN][1000 genomes]
rs234308	0.81[ASN][1000 genomes]
rs234309	0.85[ASN][1000 genomes]
rs234310	0.80[ASN][1000 genomes]
rs234313	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs234314	0.89[EUR][1000 genomes]
rs234315	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs234317	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs234318	0.80[ASN][1000 genomes]
rs234323	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs234324	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs234325	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs234326	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs234328	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs234341	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs234343	0.82[ASN][1000 genomes]
rs234353	0.82[ASN][1000 genomes]
rs234355	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs234357	0.82[ASN][1000 genomes]
rs234360	0.80[ASN][1000 genomes]
rs234361	0.80[ASN][1000 genomes]
rs234370	0.80[ASN][1000 genomes]
rs234371	0.80[ASN][1000 genomes]
rs234374	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2542303	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2819956	0.85[ASN][1000 genomes]
rs28366011	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28366012	0.84[ASN][1000 genomes]
rs365055	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs371500	0.80[ASN][1000 genomes]
rs372599	0.86[ASN][1000 genomes]
rs387202	0.85[ASN][1000 genomes]
rs392958	0.82[ASN][1000 genomes]
rs3930885	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs404754	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs423545	0.82[ASN][1000 genomes]
rs424353	0.80[ASN][1000 genomes]
rs57219798	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58210425	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs58284735	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs58941665	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs59925663	0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60080503	0.82[ASN][1000 genomes]
rs60887294	0.85[ASN][1000 genomes]
rs61236589	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61385499	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs615215	0.80[ASN][1000 genomes]
rs7247527	0.80[ASN][1000 genomes]
rs73543974	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73543979	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73544000	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73545909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73545911	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73545934	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73545936	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73545938	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73545945	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73545950	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73545955	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73545975	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73546001	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73546002	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73547618	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73547620	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73547638	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73547652	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73547656	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73547663	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73547676	0.82[ASN][1000 genomes]
rs73547677	0.82[ASN][1000 genomes]
rs73547696	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs73547702	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs73549825	0.89[EUR][1000 genomes]
rs8105066	0.80[ASN][1000 genomes]
rs9917073	0.80[ASN][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	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40457400-40475600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr19:40460200-40474800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr19:40460800-40476000	Weak transcription	Psoas Muscle	Psoas
4	chr19:40461600-40475400	Weak transcription	Brain Substantia Nigra	brain
5	chr19:40464000-40475000	Weak transcription	GM12878-XiMat	blood
6	chr19:40465400-40474200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:40466200-40476200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:40466400-40469400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr19:40466400-40469400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr19:40466400-40469400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr19:40466400-40469400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr19:40466400-40469600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr19:40466400-40469600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr19:40466400-40474800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr19:40466400-40474800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr19:40467200-40469600	Weak transcription	Stomach Mucosa	stomach
17	chr19:40467400-40469600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:40468200-40471600	Weak transcription	A549	lung

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