Variant report

Variant	rs6992774
Chromosome Location	chr8:96111409-96111410
allele	A/G
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	chr8:95959920..95961566-chr8:96108874..96111712,2	MCF-7	breast:
2	chr8:96036860..96039472-chr8:96108627..96112245,4	MCF-7	breast:
3	chr8:96109979..96112421-chr8:96207106..96209124,2	MCF-7	breast:
4	chr8:96107778..96115564-chr8:96144421..96149353,22	MCF-7	breast:
5	chr8:96104764..96108289-chr8:96108650..96112287,3	K562	blood:
6	chr8:95909127..95911685-chr8:96110779..96112456,2	MCF-7	breast:
7	chr8:96108471..96116302-chr8:96144708..96150629,15	MCF-7	breast:
8	chr8:96077629..96090166-chr8:96105796..96116852,50	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175895	Chromatin interaction
ENSG00000245080	Chromatin interaction
ENSG00000156170	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1000285	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1000286	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10091897	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10093559	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10096848	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774506	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776488	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777952	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11778009	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781134	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782021	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12543421	0.80[ASN][1000 genomes]
rs12548426	0.80[ASN][1000 genomes]
rs13248868	0.80[ASN][1000 genomes]
rs13273307	0.80[ASN][1000 genomes]
rs16917325	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2341400	0.80[ASN][1000 genomes]
rs2880033	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34681252	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34901613	0.80[ASN][1000 genomes]
rs4236831	0.82[ASN][1000 genomes]
rs4321970	0.82[ASN][1000 genomes]
rs4323439	0.82[ASN][1000 genomes]
rs4329243	0.82[ASN][1000 genomes]
rs4734299	0.83[ASN][1000 genomes]
rs6987762	0.82[ASN][1000 genomes]
rs7008347	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7010205	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73262476	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv891207	chr8:96106037-96160914	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96098600-96111600	Weak transcription	Pancreas	Pancrea
2	chr8:96100400-96113600	Weak transcription	Lung	lung
3	chr8:96100600-96112000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:96100800-96111800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:96102800-96111800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:96102800-96112000	Weak transcription	A549	lung
7	chr8:96103000-96112000	Weak transcription	Osteobl	bone
8	chr8:96103200-96111600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:96106200-96111800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:96106200-96112200	Enhancers	GM12878-XiMat	blood
11	chr8:96106600-96112000	Weak transcription	Primary B cells from cord blood	blood
12	chr8:96107200-96112000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr8:96107400-96112000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr8:96107800-96113400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:96108200-96113400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:96108600-96111600	Weak transcription	NH-A	brain
17	chr8:96108800-96111600	Weak transcription	HMEC	breast
18	chr8:96108800-96111600	Weak transcription	NHEK	skin
19	chr8:96109200-96112000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:96109400-96111600	Weak transcription	Thymus	Thymus
21	chr8:96109400-96112000	Weak transcription	Placenta	Placenta
22	chr8:96109800-96111600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:96110200-96112200	Enhancers	HepG2	liver
24	chr8:96110400-96112200	Weak transcription	K562	blood
25	chr8:96110600-96111600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr8:96110600-96111600	Weak transcription	Fetal Thymus	thymus
27	chr8:96110800-96112600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr8:96111000-96112600	Enhancers	Primary T cells fromperipheralblood	blood
29	chr8:96111000-96113000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:96111200-96112200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr8:96111200-96112400	Enhancers	Stomach Mucosa	stomach
32	chr8:96111400-96112200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:96111400-96112200	Enhancers	Fetal Kidney	kidney
34	chr8:96111400-96112200	Enhancers	Hela-S3	cervix
35	chr8:96111400-96112400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr8:96111400-96112600	Enhancers	Primary hematopoietic stem cells	blood
37	chr8:96111400-96112600	Enhancers	Fetal Intestine Large	intestine
38	chr8:96111400-96113400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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