Variant report

Variant	rs11786253
Chromosome Location	chr8:9913772-9913773
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9912450..9914254-chr8:9914390..9916277,2	MCF-7	breast:
2	chr8:9912174..9913822-chr8:9921464..9923860,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11995711	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1521190	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17738724	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17739113	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17739179	0.87[AFR][1000 genomes]
rs2628140	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs472514	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59759359	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60465334	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs728878	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7812741	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs814405	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv869934	chr8:9806639-9940586	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv890343	chr8:9888729-9932797	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr8:9912600-9913800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:9913000-9913800	Enhancers	Fetal Brain Male	brain
3	chr8:9913000-9933400	Weak transcription	Gastric	stomach
4	chr8:9913200-9914200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:9913200-9914600	Weak transcription	Left Ventricle	heart
6	chr8:9913200-9915600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:9913200-9916200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:9913200-9919200	Weak transcription	Fetal Muscle Leg	muscle
9	chr8:9913200-9919400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:9913200-9919400	Weak transcription	Lung	lung
11	chr8:9913200-9919400	Weak transcription	Spleen	Spleen
12	chr8:9913200-9921000	Weak transcription	Fetal Stomach	stomach
13	chr8:9913200-9922000	Weak transcription	Esophagus	oesophagus
14	chr8:9913200-9926600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:9913200-9927600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:9913200-9929200	Weak transcription	Aorta	Aorta
17	chr8:9913200-9933600	Weak transcription	Pancreas	Pancrea
18	chr8:9913200-9944800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:9913400-9913800	Enhancers	Primary B cells from peripheral blood	blood
20	chr8:9913400-9913800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr8:9913400-9913800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr8:9913400-9914000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr8:9913400-9914000	Enhancers	Primary T cells from cord blood	blood
24	chr8:9913400-9914000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr8:9913400-9914000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr8:9913400-9914400	Weak transcription	Liver	Liver
27	chr8:9913400-9915400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:9913400-9915400	Weak transcription	Fetal Intestine Large	intestine
29	chr8:9913400-9915800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr8:9913400-9917000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:9913400-9918400	Weak transcription	Fetal Brain Female	brain
32	chr8:9913400-9921200	Weak transcription	Adipose Nuclei	Adipose
33	chr8:9913400-9928000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:9913400-9930600	Weak transcription	Fetal Intestine Small	intestine
35	chr8:9913400-9935800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:9913600-9913800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:9913600-9914000	Enhancers	Primary B cells from cord blood	blood
38	chr8:9913600-9915200	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr8:9913600-9920400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr8:9913600-9938600	Weak transcription	Monocytes-CD14+_RO01746	blood

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