Variant report

Variant	rs10147304
Chromosome Location	chr14:79079176-79079177
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	FAM48A	chr14:79079049-79079232	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
NRXN3	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10132085	0.82[CEU][hapmap]
rs10132376	0.82[CEU][hapmap]
rs10138082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10138731	0.82[CEU][hapmap]
rs10141923	0.82[CEU][hapmap]
rs10145600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10147519	0.95[AMR][1000 genomes]
rs10873318	0.82[CEU][hapmap]
rs1159491	0.90[GIH][hapmap]
rs11845483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849937	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12323467	0.82[CEU][hapmap]
rs12431997	0.82[CEU][hapmap]
rs12432145	0.82[CEU][hapmap]
rs12432323	0.82[CEU][hapmap]
rs12435491	0.82[CEU][hapmap]
rs12435510	0.82[CEU][hapmap]
rs12436134	0.82[CEU][hapmap]
rs12437077	0.82[CEU][hapmap]
rs12590068	1.00[CEU][hapmap]
rs17107968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17108004	0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2370825	0.82[CEU][hapmap]
rs28577120	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4643247	0.82[CEU][hapmap]
rs7160080	0.82[CEU][hapmap]
rs8018626	0.82[CEU][hapmap]
rs8021089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][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	esv2760000	chr14:78875607-79173528	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2758363	chr14:78903610-79173528	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv34435	chr14:79055398-79111151	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	esv2757578	chr14:79055398-79140536	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv1367	chr14:79067521-79106387	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10147304	C2CD4B	trans	brain	seeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79075400-79079200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:79077200-79079600	Enhancers	Brain Angular Gyrus	brain
3	chr14:79077400-79079400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:79077400-79079600	Enhancers	Brain Cingulate Gyrus	brain
5	chr14:79077600-79079200	Weak transcription	Brain Anterior Caudate	brain
6	chr14:79078400-79079600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:79078400-79079600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:79078400-79079600	Enhancers	Brain Substantia Nigra	brain
9	chr14:79078400-79080000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:79078600-79079600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr14:79078800-79079200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:79078800-79079200	Weak transcription	Brain Germinal Matrix	brain
13	chr14:79078800-79079600	Enhancers	Brain Hippocampus Middle	brain
14	chr14:79079000-79079400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr14:79079000-79079400	Enhancers	H9 Cell Line	embryonic stem cell

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