Variant report

Variant	rs300943
Chromosome Location	chr4:144206153-144206154
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10000911	0.82[MEX][hapmap]
rs10012713	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10028909	0.89[ASN][1000 genomes]
rs10033104	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10155434	0.82[MEX][hapmap]
rs10434185	0.82[CEU][hapmap]
rs11100779	0.82[CEU][hapmap]
rs11947952	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12501994	0.82[CHD][hapmap]
rs12643013	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13114280	0.84[EUR][1000 genomes]
rs13118846	0.95[ASN][1000 genomes]
rs13118943	0.84[EUR][1000 genomes]
rs13129434	0.89[ASN][1000 genomes]
rs13136521	0.86[CHB][hapmap]
rs13137362	0.89[ASN][1000 genomes]
rs13137565	0.82[CEU][hapmap];0.82[MEX][hapmap]
rs1440412	0.83[AMR][1000 genomes]
rs1532981	0.95[ASN][1000 genomes]
rs2119269	0.84[EUR][1000 genomes]
rs300894	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs300899	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs300901	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs300902	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs300903	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs300913	0.95[CEU][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs300914	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs300915	0.95[CEU][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs300917	0.95[CEU][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs300921	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs300924	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs300925	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs300927	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs300929	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs300938	0.81[EUR][1000 genomes]
rs300940	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs300941	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs300946	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300947	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300949	0.90[EUR][1000 genomes]
rs300951	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs300953	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4285045	0.82[CEU][hapmap];0.82[MEX][hapmap]
rs4690783	0.84[EUR][1000 genomes]
rs476417	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs592349	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs624170	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6537152	0.89[ASN][1000 genomes]
rs6537153	0.90[ASN][1000 genomes]
rs666542	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6820340	0.81[CEU][hapmap]
rs6823434	0.89[ASN][1000 genomes]
rs6840603	0.93[ASN][1000 genomes]
rs7435424	0.81[CEU][hapmap]
rs7436840	0.83[EUR][1000 genomes]
rs763918	0.84[EUR][1000 genomes]
rs7655782	0.95[ASN][1000 genomes]
rs7690761	0.95[ASN][1000 genomes]
rs7692813	0.82[CEU][hapmap]
rs9996072	0.82[CEU][hapmap]
rs9998017	0.82[CEU][hapmap];0.82[MEX][hapmap]

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	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv880177	chr4:144174773-144214082	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs300943	SLC10A7	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144203200-144207200	Weak transcription	Psoas Muscle	Psoas
2	chr4:144203400-144206800	Weak transcription	Fetal Brain Male	brain
3	chr4:144203600-144206200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:144203600-144206800	Weak transcription	NHLF	lung
5	chr4:144203600-144207600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:144203800-144206200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:144203800-144206400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:144203800-144206600	Weak transcription	Fetal Lung	lung
9	chr4:144203800-144206800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:144203800-144207200	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:144203800-144207400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:144204000-144207000	Weak transcription	Adipose Nuclei	Adipose
13	chr4:144204600-144206800	Weak transcription	NHDF-Ad	bronchial
14	chr4:144204800-144208200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:144206000-144206800	Enhancers	HMEC	breast
16	chr4:144206000-144210200	Enhancers	Fetal Stomach	stomach

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