Variant report

Variant	rs10112253
Chromosome Location	chr8:131289574-131289575
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	chr8:131274673..131277177-chr8:131288915..131291694,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10087951	0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13439267	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13439609	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28572338	1.00[AMR][1000 genomes]
rs56242784	1.00[AMR][1000 genomes]
rs73711700	1.00[AMR][1000 genomes]
rs73712892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73712897	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131268400-131291400	Weak transcription	Fetal Intestine Large	intestine
2	chr8:131270600-131291200	Weak transcription	Liver	Liver
3	chr8:131277400-131291200	Weak transcription	Thymus	Thymus
4	chr8:131282000-131291000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:131282000-131292200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:131282000-131292200	Weak transcription	HSMMtube	muscle
7	chr8:131282000-131298800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:131282200-131289800	Weak transcription	HepG2	liver
9	chr8:131282200-131291000	Weak transcription	Small Intestine	intestine
10	chr8:131282400-131314800	Weak transcription	Gastric	stomach
11	chr8:131283400-131289800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:131283400-131290600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:131283800-131290000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:131283800-131299200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:131285600-131292800	Enhancers	Brain Anterior Caudate	brain
16	chr8:131286200-131289600	Enhancers	Ovary	ovary
17	chr8:131286800-131289600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:131286800-131289600	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr8:131287200-131289600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:131287200-131289600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:131287200-131290400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:131287200-131291200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:131287400-131289600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr8:131287400-131289800	Weak transcription	HSMM	muscle
25	chr8:131287400-131290000	Weak transcription	HUVEC	blood vessel
26	chr8:131287400-131290400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:131287600-131290200	Enhancers	Brain Cingulate Gyrus	brain
28	chr8:131287800-131291000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:131288000-131291200	Enhancers	Primary B cells from peripheral blood	blood
30	chr8:131288000-131292800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr8:131288200-131289600	Enhancers	Stomach Smooth Muscle	stomach
32	chr8:131288200-131290000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:131288200-131290200	Enhancers	Fetal Heart	heart
34	chr8:131288200-131290200	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr8:131288200-131292800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr8:131288400-131289600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr8:131288400-131289600	Enhancers	Fetal Brain Male	brain
38	chr8:131288400-131289600	Enhancers	Fetal Stomach	stomach
39	chr8:131288400-131289600	Genic enhancers	NHLF	lung
40	chr8:131288400-131290200	Enhancers	Spleen	Spleen
41	chr8:131288600-131289600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
42	chr8:131288600-131289600	Enhancers	Adipose Nuclei	Adipose
43	chr8:131288600-131289600	Enhancers	Brain Germinal Matrix	brain
44	chr8:131288600-131289600	Enhancers	Left Ventricle	heart
45	chr8:131288600-131289800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:131288600-131290000	Enhancers	Brain Hippocampus Middle	brain
47	chr8:131288600-131290200	Enhancers	Brain Angular Gyrus	brain
48	chr8:131288600-131290400	Strong transcription	NHEK	skin
49	chr8:131288600-131291600	Enhancers	Primary B cells from cord blood	blood
50	chr8:131288600-131292200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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