Variant report

Variant	rs2599719
Chromosome Location	chr8:96038473-96038474
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96035216..96038805-chr8:96144544..96148215,5	MCF-7	breast:
2	chr8:96029323..96031778-chr8:96037599..96040079,2	K562	blood:
3	chr8:95906811..95910746-chr8:96036982..96038663,3	K562	blood:
4	chr8:95956652..95964127-chr8:96035798..96039465,14	MCF-7	breast:
5	chr6:151710576..151712846-chr8:96037151..96040078,2	MCF-7	breast:
6	chr8:96037199..96039610-chr8:96084206..96086584,2	K562	blood:
7	chr8:96036158..96039259-chr8:96045836..96048453,3	MCF-7	breast:
8	chr17:27738897..27740398-chr8:96037413..96039702,2	MCF-7	breast:
9	chr8:96037342..96039267-chr8:96086128..96088306,2	MCF-7	breast:
10	chr8:95959680..95964310-chr8:96036583..96039456,6	MCF-7	breast:
11	chr8:96037704..96039213-chr8:96145845..96147628,2	K562	blood:
12	chr8:95835209..95837028-chr8:96037260..96039348,2	MCF-7	breast:
13	chr8:95906811..95909706-chr8:96035495..96039299,4	K562	blood:
14	chr8:95906302..95910709-chr8:96035472..96039639,10	MCF-7	breast:
15	chr8:95905055..95911257-chr8:96032486..96039313,18	MCF-7	breast:
16	chr8:95565366..95567177-chr8:96036825..96038672,2	K562	blood:
17	chr8:95959784..95963292-chr8:96036254..96039616,3	K562	blood:
18	chr8:96037608..96039540-chr8:96126841..96128401,2	K562	blood:
19	chr8:96033508..96040236-chr8:96084539..96089897,8	MCF-7	breast:
20	chr8:96037496..96040138-chr8:96124938..96127918,2	MCF-7	breast:
21	chr8:95835151..95838228-chr8:96036599..96039705,3	K562	blood:
22	chr17:59485283..59487491-chr8:96036990..96038836,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175305	Chromatin interaction
ENSG00000164941	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000164944	Chromatin interaction
ENSG00000245080	Chromatin interaction
ENSG00000253704	Chromatin interaction
ENSG00000253878	Chromatin interaction
ENSG00000181472	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000164938	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10105495	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2459966	0.84[AMR][1000 genomes]
rs2599716	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2599718	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2599723	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2678821	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2678832	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2678836	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2945553	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62523112	0.95[EUR][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	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

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96036600-96038600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:96036600-96038800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:96036800-96038600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr8:96036800-96038800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:96037000-96038600	Active TSS	A549	lung
6	chr8:96037000-96038600	Active TSS	K562	blood
7	chr8:96037600-96038600	Flanking Active TSS	Liver	Liver
8	chr8:96037600-96038800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr8:96037800-96038600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:96037800-96038600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr8:96037800-96038800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:96037800-96039200	Flanking Active TSS	Dnd41	blood
13	chr8:96037800-96070200	Weak transcription	Aorta	Aorta
14	chr8:96038000-96038600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:96038000-96038600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr8:96038000-96038600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:96038000-96038600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:96038000-96038600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr8:96038000-96038600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:96038000-96038600	Enhancers	Small Intestine	intestine
21	chr8:96038000-96038600	Flanking Active TSS	GM12878-XiMat	blood
22	chr8:96038000-96038800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:96038000-96038800	Flanking Active TSS	Hela-S3	cervix
24	chr8:96038000-96039200	Enhancers	Primary hematopoietic stem cells	blood
25	chr8:96038000-96063800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:96038200-96038600	Enhancers	Primary B cells from cord blood	blood
27	chr8:96038200-96038600	Enhancers	Primary B cells from peripheral blood	blood
28	chr8:96038200-96038600	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr8:96038200-96038600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr8:96038200-96038600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:96038200-96038600	Enhancers	Brain Cingulate Gyrus	brain
32	chr8:96038200-96038600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr8:96038200-96038600	Enhancers	Fetal Intestine Large	intestine
34	chr8:96038200-96038600	Enhancers	Fetal Muscle Trunk	muscle
35	chr8:96038200-96038600	Enhancers	Gastric	stomach
36	chr8:96038200-96038600	Enhancers	Thymus	Thymus
37	chr8:96038200-96038800	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr8:96038200-96038800	Enhancers	Fetal Brain Male	brain
39	chr8:96038200-96039000	Enhancers	Primary T cells fromperipheralblood	blood
40	chr8:96038200-96039200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:96038200-96039200	Enhancers	Esophagus	oesophagus
42	chr8:96038200-96039200	Enhancers	Pancreas	Pancrea
43	chr8:96038200-96039200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr8:96038200-96039800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:96038200-96039800	Enhancers	Left Ventricle	heart
46	chr8:96038200-96042600	Weak transcription	Fetal Stomach	stomach
47	chr8:96038200-96043200	Weak transcription	Fetal Lung	lung
48	chr8:96038200-96045000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr8:96038200-96045400	Weak transcription	Ovary	ovary
50	chr8:96038200-96046000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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