Variant report

Variant	rs966459
Chromosome Location	chr8:96098397-96098398
allele	C/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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96095732..96098927-chr8:96100479..96105447,7	K562	blood:
2	chr8:95906412..95908805-chr8:96098165..96100293,2	MCF-7	breast:
3	chr8:96035298..96037639-chr8:96096701..96099172,2	MCF-7	breast:
4	chr8:96095758..96103345-chr8:96144049..96152228,17	MCF-7	breast:
5	chr8:96049863..96052563-chr8:96097765..96099435,2	MCF-7	breast:
6	chr8:96097741..96100033-chr8:96272742..96274690,2	MCF-7	breast:
7	chr8:96036624..96038754-chr8:96097409..96099751,2	MCF-7	breast:
8	chr1:149858166..149859995-chr8:96096320..96099010,2	MCF-7	breast:
9	chr8:96097880..96099872-chr8:96212042..96213834,2	MCF-7	breast:
10	chr8:96096993..96099961-chr8:96235932..96238973,3	MCF-7	breast:
11	chr8:96095701..96099568-chr8:96099629..96105496,9	K562	blood:
12	chr8:96096484..96101537-chr8:96142870..96147410,9	MCF-7	breast:
13	chr8:96086982..96089497-chr8:96096571..96099137,3	K562	blood:
14	chr8:96097174..96099699-chr8:96151326..96153504,2	MCF-7	breast:
15	chr8:96097941..96100243-chr8:97273935..97276169,2	MCF-7	breast:
16	chr8:96087997..96090482-chr8:96096727..96098708,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175305	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000156471	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000175895	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];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2119588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2165496	0.87[AFR][1000 genomes];1.00[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];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2599701	0.87[EUR][1000 genomes]
rs2599702	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2599703	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2599704	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs2599705	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs2678839	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2678840	0.88[EUR][1000 genomes]
rs28416970	0.83[ASN][1000 genomes]
rs2923814	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2945565	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2945566	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34824997	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4379417	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4641029	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs6471509	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[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];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[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];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471515	0.81[AMR][1000 genomes];0.99[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];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011919	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	0.96[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:45 , 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	chr8:96097200-96098800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:96097200-96099200	Enhancers	Primary B cells from cord blood	blood
4	chr8:96097200-96099600	Enhancers	NHEK	skin
5	chr8:96097400-96100000	Weak transcription	Esophagus	oesophagus
6	chr8:96097600-96098400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:96097600-96098600	Enhancers	Pancreas	Pancrea
8	chr8:96097600-96098800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:96097600-96098800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:96097600-96099200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:96097600-96100800	Enhancers	Placenta	Placenta
12	chr8:96097800-96098400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:96097800-96098800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:96098000-96098400	Enhancers	Primary hematopoietic stem cells	blood
15	chr8:96098000-96098400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:96098000-96098400	Enhancers	Stomach Mucosa	stomach
17	chr8:96098000-96098600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:96098000-96098600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:96098000-96098600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr8:96098000-96098600	Enhancers	Fetal Kidney	kidney
21	chr8:96098000-96098600	Enhancers	HUVEC	blood vessel
22	chr8:96098000-96098800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr8:96098000-96098800	Enhancers	Primary B cells from peripheral blood	blood
24	chr8:96098000-96098800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:96098000-96098800	Enhancers	Dnd41	blood
26	chr8:96098000-96098800	Enhancers	HepG2	liver
27	chr8:96098000-96098800	Enhancers	K562	blood
28	chr8:96098000-96099400	Enhancers	Primary T cells from cord blood	blood
29	chr8:96098000-96100800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr8:96098000-96100800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr8:96098200-96098400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:96098200-96098600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr8:96098200-96098600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr8:96098200-96098600	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr8:96098200-96098600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr8:96098200-96098600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr8:96098200-96098600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr8:96098200-96098600	Enhancers	Fetal Thymus	thymus
39	chr8:96098200-96098600	Enhancers	Gastric	stomach
40	chr8:96098200-96098600	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr8:96098200-96098800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:96098200-96098800	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr8:96098200-96098800	Enhancers	Thymus	Thymus
44	chr8:96098200-96100200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:96098200-96100800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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