Variant report

Variant	rs3757550
Chromosome Location	chr7:121511889-121511890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1007522	0.95[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1007784	0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1011693	0.82[JPT][hapmap]
rs10246475	0.99[ASN][1000 genomes]
rs10256242	0.82[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap]
rs10275407	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11978007	0.89[CEU][hapmap];0.90[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1206473	0.81[GIH][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1206477	0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1206480	0.87[EUR][1000 genomes]
rs1206481	0.95[JPT][hapmap];0.80[EUR][1000 genomes]
rs1206482	0.81[EUR][1000 genomes]
rs1206483	0.95[JPT][hapmap]
rs1206486	0.82[JPT][hapmap]
rs1206488	0.82[JPT][hapmap]
rs1206492	0.82[JPT][hapmap]
rs1206500	0.82[JPT][hapmap]
rs1206501	0.82[JPT][hapmap]
rs12666526	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1916880	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1916883	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1916886	0.90[CHB][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1916887	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1916888	0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1916889	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2024249	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2191782	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2215572	0.89[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2402590	0.96[ASN][1000 genomes]
rs3757549	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740960	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs740963	0.91[ASN][1000 genomes]
rs740964	0.85[CEU][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7778179	0.90[ASN][1000 genomes]
rs7797305	0.82[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap]
rs7802916	0.91[ASN][1000 genomes]
rs7808915	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809971	0.96[ASN][1000 genomes]
rs7811200	0.91[ASN][1000 genomes]
rs960539	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429808	chr7:121384049-121600049	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1802911	chr7:121489994-121524500	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3757550	KCND2	cis	cerebellum	SCAN
rs3757550	TAS2R16	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121500800-121512800	Weak transcription	Aorta	Aorta
2	chr7:121508200-121512000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:121508600-121512200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:121510600-121512400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:121510800-121512200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:121510800-121512200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:121510800-121512400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:121510800-121512400	Enhancers	Fetal Brain Male	brain
9	chr7:121511400-121512200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:121511600-121512000	Flanking Active TSS	Fetal Brain Female	brain
11	chr7:121511600-121512400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:121511800-121512400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:121511800-121512400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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