Variant report

Variant	rs851615
Chromosome Location	chr19:42815293-42815294
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42800037..42802686-chr19:42813710..42815319,2	MCF-7	breast:
2	chr19:42775700..42778314-chr19:42814238..42816528,2	K562	blood:
3	chr19:42804822..42808346-chr19:42815036..42819132,8	MCF-7	breast:
4	chr19:42808508..42812902-chr19:42814472..42818712,4	MCF-7	breast:
5	chr19:42814347..42817419-chr19:42838492..42840570,3	K562	blood:
6	chr19:42804981..42810862-chr19:42813585..42819261,9	K562	blood:
7	chr19:42804082..42810862-chr19:42813351..42818872,10	K562	blood:
8	chr19:42740830..42743417-chr19:42815153..42817394,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000188368	Chromatin interaction
ENSG00000079462	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10410185	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10410198	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10410698	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10412833	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10426306	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10426310	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11557114	0.82[ASN][1000 genomes]
rs11878620	0.82[ASN][1000 genomes]
rs11882654	0.90[ASN][1000 genomes]
rs1206009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1206027	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1206028	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1206029	0.89[EUR][1000 genomes]
rs1206031	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1206033	0.86[EUR][1000 genomes]
rs1206035	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1206038	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1206040	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1206041	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1206042	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1206043	0.87[EUR][1000 genomes]
rs1206044	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1209280	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1211265	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13346991	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1613100	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1654623	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1676211	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1676213	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1676214	0.86[EUR][1000 genomes]
rs1676215	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1676217	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1676220	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1676221	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1685565	0.89[EUR][1000 genomes]
rs2302485	0.82[ASN][1000 genomes]
rs2537697	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615614	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28537976	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28621009	0.89[EUR][1000 genomes]
rs34922891	0.89[EUR][1000 genomes]
rs35493131	0.82[ASN][1000 genomes]
rs35557987	0.89[EUR][1000 genomes]
rs3810148	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4141062	0.86[ASN][1000 genomes]
rs57938324	0.90[ASN][1000 genomes]
rs61995685	0.89[EUR][1000 genomes]
rs7255956	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7258795	0.90[ASN][1000 genomes]
rs7260287	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73552881	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73552895	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs741070	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs851292	0.89[EUR][1000 genomes]
rs851293	0.89[EUR][1000 genomes]
rs851296	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs851612	0.86[ASN][1000 genomes]
rs862228	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs865436	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9636121	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
5	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
6	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
7	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
8	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42807200-42817200	Weak transcription	Right Atrium	heart
2	chr19:42807800-42815800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr19:42807800-42815800	Weak transcription	Fetal Stomach	stomach
4	chr19:42807800-42816200	Weak transcription	Brain Germinal Matrix	brain
5	chr19:42808000-42815600	Weak transcription	Fetal Brain Female	brain
6	chr19:42808200-42817000	Weak transcription	K562	blood
7	chr19:42808400-42816600	Weak transcription	Gastric	stomach
8	chr19:42811400-42816600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:42811400-42817200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:42814600-42815800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr19:42814600-42817200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:42814600-42821200	Enhancers	Fetal Brain Male	brain
13	chr19:42814800-42815600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:42815200-42815400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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