Variant report

Variant	rs59911031
Chromosome Location	chr12:64993940-64993941
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64992855..64995703-chr12:65002717..65005866,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153179	Chromatin interaction
ENSG00000256670	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11175472	0.89[AFR][1000 genomes]
rs11175473	0.89[AFR][1000 genomes]
rs12318332	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55657746	0.89[AFR][1000 genomes]
rs57899263	0.95[AFR][1000 genomes]
rs58562693	0.90[AFR][1000 genomes]
rs74098276	0.94[AFR][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	nsv832443	chr12:64878856-65057265	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1048199	chr12:64951666-65021700	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	nsv541512	chr12:64951666-65021700	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64985600-64994200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:64988800-64994000	Enhancers	Primary T cells fromperipheralblood	blood
3	chr12:64990400-64994000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:64991800-64994200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr12:64992000-64994200	Enhancers	Dnd41	blood
6	chr12:64992200-64994000	Weak transcription	HepG2	liver
7	chr12:64992200-64994200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:64992600-64994200	Enhancers	Fetal Thymus	thymus
9	chr12:64993000-64994000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:64993000-64994000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:64993000-64994000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:64993000-65002600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr12:64993200-64994200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:64993200-64994200	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:64993200-64994400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr12:64993200-64994800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:64993400-64994600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:64993400-64995000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr12:64993400-65001600	Weak transcription	K562	blood
20	chr12:64993600-64994200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr12:64993600-64994200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:64993600-64994200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:64993600-64994200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr12:64993600-64994400	Enhancers	Primary T cells from cord blood	blood
25	chr12:64993600-64994800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr12:64993600-64995000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr12:64993800-64994800	Enhancers	Cortex derived primary cultured neurospheres	brain

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