Variant report

Variant	rs58346791
Chromosome Location	chr8:10369573-10369574
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10369277..10371186-chr8:10371806..10374192,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10088134	1.00[EUR][1000 genomes]
rs10090747	1.00[AMR][1000 genomes]
rs10092761	1.00[EUR][1000 genomes]
rs10093620	1.00[EUR][1000 genomes]
rs10098744	1.00[EUR][1000 genomes]
rs10098752	1.00[EUR][1000 genomes]
rs10099764	1.00[AMR][1000 genomes]
rs10104007	1.00[AMR][1000 genomes]
rs10104413	1.00[AMR][1000 genomes]
rs10109127	1.00[EUR][1000 genomes]
rs10109945	1.00[AMR][1000 genomes]
rs10156246	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10216532	1.00[AMR][1000 genomes]
rs10216827	1.00[AMR][1000 genomes]
rs10903329	1.00[EUR][1000 genomes]
rs11250032	1.00[EUR][1000 genomes]
rs11250041	1.00[EUR][1000 genomes]
rs11250042	1.00[EUR][1000 genomes]
rs11250043	1.00[EUR][1000 genomes]
rs11250044	1.00[EUR][1000 genomes]
rs11250046	1.00[EUR][1000 genomes]
rs11250047	1.00[EUR][1000 genomes]
rs11990633	1.00[EUR][1000 genomes]
rs11992333	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995973	1.00[AMR][1000 genomes]
rs12114682	1.00[EUR][1000 genomes]
rs12334572	1.00[EUR][1000 genomes]
rs12549970	1.00[EUR][1000 genomes]
rs12550485	1.00[EUR][1000 genomes]
rs13270972	1.00[EUR][1000 genomes]
rs17384171	1.00[EUR][1000 genomes]
rs28412714	1.00[EUR][1000 genomes]
rs28465197	1.00[EUR][1000 genomes]
rs28534846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28545293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28556735	1.00[AMR][1000 genomes]
rs28564130	1.00[AMR][1000 genomes]
rs28590472	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28607769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28634875	1.00[EUR][1000 genomes]
rs28668680	1.00[EUR][1000 genomes]
rs28716710	1.00[AMR][1000 genomes]
rs4255099	1.00[EUR][1000 genomes]
rs4259384	1.00[EUR][1000 genomes]
rs4330653	1.00[EUR][1000 genomes]
rs4342553	1.00[EUR][1000 genomes]
rs4419779	1.00[EUR][1000 genomes]
rs4590401	1.00[EUR][1000 genomes]
rs4637782	1.00[EUR][1000 genomes]
rs4841388	1.00[EUR][1000 genomes]
rs4841393	1.00[EUR][1000 genomes]
rs55731228	1.00[EUR][1000 genomes]
rs55919609	1.00[EUR][1000 genomes]
rs56074164	1.00[EUR][1000 genomes]
rs56406662	1.00[EUR][1000 genomes]
rs56913988	1.00[EUR][1000 genomes]
rs57438570	1.00[EUR][1000 genomes]
rs57492791	1.00[EUR][1000 genomes]
rs59657261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73662848	1.00[EUR][1000 genomes]
rs73662856	1.00[EUR][1000 genomes]
rs73662859	1.00[EUR][1000 genomes]
rs73662861	1.00[EUR][1000 genomes]
rs73662862	1.00[EUR][1000 genomes]
rs73662863	1.00[EUR][1000 genomes]
rs73662864	1.00[EUR][1000 genomes]
rs73662865	1.00[EUR][1000 genomes]
rs73662866	1.00[EUR][1000 genomes]
rs73662867	1.00[EUR][1000 genomes]
rs73662870	1.00[EUR][1000 genomes]
rs73662871	1.00[EUR][1000 genomes]
rs73662872	1.00[EUR][1000 genomes]
rs7462362	1.00[EUR][1000 genomes]
rs7462370	1.00[EUR][1000 genomes]
rs7462794	1.00[EUR][1000 genomes]
rs7837411	1.00[EUR][1000 genomes]
rs7840077	1.00[EUR][1000 genomes]
rs9987400	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1024976	chr8:10303099-10385361	Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1030856	chr8:10303099-10439064	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv610268	chr8:10331636-10486652	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv1025251	chr8:10343591-10488557	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv1026918	chr8:10359634-10390452	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10367600-10370200	Flanking Active TSS	GM12878-XiMat	blood
2	chr8:10367800-10370000	Enhancers	Fetal Kidney	kidney
3	chr8:10368000-10369600	Enhancers	Fetal Stomach	stomach
4	chr8:10368000-10370600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:10368200-10370200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:10368400-10369800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:10368600-10369600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:10368800-10369600	Enhancers	Brain Substantia Nigra	brain
9	chr8:10368800-10369800	Enhancers	Brain Germinal Matrix	brain
10	chr8:10368800-10370200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:10368800-10370600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:10368800-10370600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:10369000-10369600	Enhancers	Brain Anterior Caudate	brain
14	chr8:10369000-10370200	Enhancers	Brain Cingulate Gyrus	brain
15	chr8:10369000-10370200	Enhancers	Brain Hippocampus Middle	brain
16	chr8:10369200-10369600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr8:10369200-10370000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:10369200-10370200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:10369200-10370200	Enhancers	NHEK	skin
20	chr8:10369400-10369800	Enhancers	Fetal Brain Male	brain
21	chr8:10369400-10370200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:10369400-10373200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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