Variant report

Variant	rs11996875
Chromosome Location	chr8:105565360-105565361
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:105565178..105567381-chr8:105597153..105599899,2	K562	blood:
2	chr8:105564767..105567386-chr8:105599921..105602701,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147650	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10429349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11985102	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11985107	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11985915	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11988545	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11988673	1.00[AMR][1000 genomes]
rs11988817	1.00[AMR][1000 genomes]
rs11990136	0.95[AFR][1000 genomes]
rs11992187	1.00[AMR][1000 genomes]
rs11992473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11993150	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11995366	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11997098	1.00[AMR][1000 genomes]
rs11998493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12114034	1.00[AMR][1000 genomes]
rs12114649	1.00[AMR][1000 genomes]
rs1438354	1.00[AMR][1000 genomes]
rs28491098	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35172462	1.00[AMR][1000 genomes]
rs4562284	0.89[AFR][1000 genomes];1.00[AMR][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	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105521800-105568800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:105542800-105565400	Weak transcription	Left Ventricle	heart
3	chr8:105545200-105565600	Weak transcription	Aorta	Aorta
4	chr8:105557200-105565600	Weak transcription	Fetal Thymus	thymus
5	chr8:105557400-105583800	Weak transcription	Thymus	Thymus
6	chr8:105558000-105565600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr8:105559000-105565800	Weak transcription	K562	blood
8	chr8:105562800-105565600	Weak transcription	Psoas Muscle	Psoas
9	chr8:105563000-105565800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:105563600-105565600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr8:105564000-105565600	Weak transcription	Brain Substantia Nigra	brain
12	chr8:105565000-105565400	Strong transcription	Dnd41	blood
13	chr8:105565000-105565600	Strong transcription	Ovary	ovary
14	chr8:105565000-105565800	Enhancers	Lung	lung
15	chr8:105565000-105566000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr8:105565000-105566000	Enhancers	Adipose Nuclei	Adipose
17	chr8:105565000-105566000	ZNF genes & repeats	GM12878-XiMat	blood
18	chr8:105565200-105565800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:105565200-105566000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:105565200-105566000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:105565200-105566000	Enhancers	Right Atrium	heart
22	chr8:105565200-105566000	Enhancers	Right Ventricle	heart
23	chr8:105565200-105566400	ZNF genes & repeats	Fetal Stomach	stomach
24	chr8:105565200-105566600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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