Variant report

Variant	rs7011919
Chromosome Location	chr8:96099260-96099261
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:95906412..95908805-chr8:96098165..96100293,2	MCF-7	breast:
2	chr8:96095758..96103345-chr8:96144049..96152228,17	MCF-7	breast:
3	chr8:96049863..96052563-chr8:96097765..96099435,2	MCF-7	breast:
4	chr8:96097741..96100033-chr8:96272742..96274690,2	MCF-7	breast:
5	chr8:96036624..96038754-chr8:96097409..96099751,2	MCF-7	breast:
6	chr8:96097880..96099872-chr8:96212042..96213834,2	MCF-7	breast:
7	chr8:96096993..96099961-chr8:96235932..96238973,3	MCF-7	breast:
8	chr8:96095701..96099568-chr8:96099629..96105496,9	K562	blood:
9	chr8:96096484..96101537-chr8:96142870..96147410,9	MCF-7	breast:
10	chr8:96097174..96099699-chr8:96151326..96153504,2	MCF-7	breast:
11	chr8:96097941..96100243-chr8:97273935..97276169,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175305	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000156471	Chromatin interaction
ENSG00000254248	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11778995	0.82[ASN][1000 genomes]
rs11785698	0.88[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs1996500	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2119588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2165496	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2165497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2599701	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2599702	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2599703	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2599704	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2599705	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2678839	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2678840	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28416970	0.83[ASN][1000 genomes]
rs2923814	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2945565	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2945566	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34824997	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4379417	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4641029	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs6471509	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471510	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471514	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471515	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980872	0.82[ASN][1000 genomes]
rs6982086	0.88[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs7002090	0.89[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs7011768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs966459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9720421	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv891205	chr8:96062601-96115476	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
5	nsv891206	chr8:96092251-96115476	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr8:96080200-96101800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:96097200-96099600	Enhancers	NHEK	skin
3	chr8:96097400-96100000	Weak transcription	Esophagus	oesophagus
4	chr8:96097600-96100800	Enhancers	Placenta	Placenta
5	chr8:96098000-96099400	Enhancers	Primary T cells from cord blood	blood
6	chr8:96098000-96100800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr8:96098000-96100800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr8:96098200-96100200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:96098200-96100800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr8:96098400-96099400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr8:96098400-96099800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:96098400-96100200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:96098400-96101800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:96098400-96102400	Weak transcription	Stomach Mucosa	stomach
15	chr8:96098600-96100000	Weak transcription	Fetal Thymus	thymus
16	chr8:96098600-96100200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:96098600-96101800	Weak transcription	Gastric	stomach
18	chr8:96098600-96101800	Weak transcription	HUVEC	blood vessel
19	chr8:96098600-96102000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr8:96098600-96102200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr8:96098600-96102200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr8:96098600-96102400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr8:96098600-96111600	Weak transcription	Pancreas	Pancrea
24	chr8:96098800-96099400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr8:96098800-96099800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:96098800-96099800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:96098800-96100000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:96098800-96100000	Weak transcription	K562	blood
29	chr8:96098800-96102000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:96098800-96102200	Weak transcription	Thymus	Thymus
31	chr8:96098800-96102400	Weak transcription	Dnd41	blood
32	chr8:96098800-96103800	Weak transcription	HepG2	liver
33	chr8:96099000-96100000	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:96099200-96099400	Enhancers	Colonic Mucosa	Colon
35	chr8:96099200-96100000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr8:96099200-96100000	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr8:96099200-96100000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:96099200-96100200	Weak transcription	Lung	lung
39	chr8:96099200-96100600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:96099200-96100800	Enhancers	Primary B cells from peripheral blood	blood

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