Variant report

Variant	rs12193099
Chromosome Location	chr6:11381106-11381107
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	chr6:11229690..11234119-chr6:11380884..11384431,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111859	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1012502	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1013678	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10947204	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12199545	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12204242	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12208626	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12210644	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12215372	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12215715	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12215894	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13198555	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13217274	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1810451	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4276494	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4533978	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4632886	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4711271	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4711272	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6916534	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6932496	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7738560	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7768351	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9348868	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9357127	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9461714	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9469034	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv432848	chr6:11371614-11560114	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11364600-11381200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr6:11374000-11381200	Weak transcription	Dnd41	blood
3	chr6:11374800-11381800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:11374800-11382200	Weak transcription	Small Intestine	intestine
5	chr6:11377800-11386600	Weak transcription	HepG2	liver
6	chr6:11378200-11381400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:11379000-11381200	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr6:11379600-11381600	Weak transcription	Placenta	Placenta
9	chr6:11379600-11382200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:11380000-11381600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr6:11380000-11383200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr6:11380200-11381200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:11380200-11381400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr6:11380200-11381400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:11380200-11381600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr6:11380200-11382600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:11380400-11381200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr6:11380400-11381600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr6:11380400-11382200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:11380600-11381200	Enhancers	Primary hematopoietic stem cells	blood
21	chr6:11380600-11381200	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr6:11380600-11382200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr6:11380600-11382400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:11380600-11382800	Active TSS	GM12878-XiMat	blood
25	chr6:11380600-11383400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr6:11380800-11381400	Weak transcription	Left Ventricle	heart
27	chr6:11380800-11381800	Weak transcription	Lung	lung
28	chr6:11380800-11381800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr6:11380800-11382000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:11380800-11382200	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr6:11380800-11382800	Active TSS	Duodenum Mucosa	Duodenum
32	chr6:11381000-11381200	Enhancers	Thymus	Thymus
33	chr6:11381000-11381400	Enhancers	Fetal Thymus	thymus
34	chr6:11381000-11381800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr6:11381000-11381800	Weak transcription	Spleen	Spleen
36	chr6:11381000-11382000	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr6:11381000-11382200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr6:11381000-11382600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:11381000-11383000	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr6:11381000-11383200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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