Variant report

Variant	rs12545903
Chromosome Location	chr8:104162480-104162481
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr8:104161977-104162764	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104162104..104164227-chr8:104176288..104178946,2	MCF-7	breast:
2	chr8:104149297..104151496-chr8:104160491..104162824,2	MCF-7	breast:

Variant related genes	Relation type
MIR3151	TF binding region
BAALC	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10088491	0.98[ASN][1000 genomes]
rs10955310	0.89[ASN][1000 genomes]
rs12056711	0.98[ASN][1000 genomes]
rs13259545	0.98[ASN][1000 genomes]
rs13264626	0.97[ASN][1000 genomes]
rs13274504	0.96[ASN][1000 genomes]
rs1494276	0.97[ASN][1000 genomes]
rs1497449	0.87[ASN][1000 genomes]
rs1845430	0.98[ASN][1000 genomes]
rs2132867	0.83[AMR][1000 genomes]
rs2515176	0.83[AMR][1000 genomes]
rs2515190	0.87[ASN][1000 genomes]
rs2935579	0.87[ASN][1000 genomes]
rs3019159	0.80[AMR][1000 genomes]
rs4734071	0.87[ASN][1000 genomes]
rs4734689	0.87[ASN][1000 genomes]
rs4734690	0.87[ASN][1000 genomes]
rs61274078	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7001897	0.87[ASN][1000 genomes]
rs7014418	0.83[ASN][1000 genomes]
rs713369	0.89[EUR][1000 genomes]
rs72507596	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72671377	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs953253	0.83[AMR][1000 genomes]
rs991312	0.87[ASN][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	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104154000-104177200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:104155200-104163200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:104155600-104162800	Weak transcription	Fetal Brain Female	brain
4	chr8:104155600-104165400	Genic enhancers	Primary hematopoietic stem cells	blood
5	chr8:104156000-104163600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:104156400-104164200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:104156400-104164200	Weak transcription	Osteobl	bone
8	chr8:104158200-104164600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:104159200-104162800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:104159200-104163600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:104159400-104162600	Weak transcription	Brain Substantia Nigra	brain
12	chr8:104159800-104166200	Enhancers	Brain Cingulate Gyrus	brain
13	chr8:104160200-104162800	Weak transcription	Spleen	Spleen
14	chr8:104160200-104163600	Weak transcription	Right Ventricle	heart
15	chr8:104160600-104162800	Weak transcription	Right Atrium	heart
16	chr8:104161000-104162600	Weak transcription	Adipose Nuclei	Adipose
17	chr8:104161600-104162600	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:104161600-104162600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:104161600-104162600	Weak transcription	Left Ventricle	heart
20	chr8:104161600-104162800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:104161600-104163000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:104161600-104163600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:104161600-104163600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:104161600-104163600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:104161600-104163600	Weak transcription	Lung	lung
26	chr8:104161600-104166200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr8:104161800-104162600	Weak transcription	Fetal Brain Male	brain
28	chr8:104161800-104162800	Weak transcription	Brain Anterior Caudate	brain
29	chr8:104161800-104163000	Weak transcription	Fetal Stomach	stomach
30	chr8:104162000-104163200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr8:104162000-104165600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
32	chr8:104162000-104168000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:104162200-104162800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:104162200-104164400	Enhancers	Brain Angular Gyrus	brain
35	chr8:104162400-104162800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:104162400-104166200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:104162400-104169000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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