Variant report

Variant	rs4478468
Chromosome Location	chr7:39241481-39241482
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39238752..39240395-chr7:39241179..39245120,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10228432	0.85[CEU][hapmap];0.92[GIH][hapmap];0.89[MEX][hapmap];0.83[TSI][hapmap]
rs10234560	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10237781	0.84[EUR][1000 genomes]
rs10242061	0.82[CHD][hapmap]
rs10244167	0.81[EUR][1000 genomes]
rs10246046	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10263259	1.00[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10265739	0.83[CHB][hapmap];0.97[CHD][hapmap];0.80[JPT][hapmap];0.88[ASN][1000 genomes]
rs10275706	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11768425	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11771925	0.82[CHD][hapmap]
rs12667891	0.82[CHD][hapmap]
rs1525799	0.89[MEX][hapmap]
rs17171537	0.88[MEX][hapmap]
rs2280667	0.94[MEX][hapmap]
rs35136533	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35631433	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4236356	0.87[CHB][hapmap];0.80[JPT][hapmap];0.89[ASN][1000 genomes]
rs4291171	0.88[ASN][1000 genomes]
rs4323393	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4355688	0.94[MEX][hapmap]
rs4442033	0.82[CHB][hapmap];0.97[CHD][hapmap];0.80[JPT][hapmap];0.88[ASN][1000 genomes]
rs4537223	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4723828	0.83[EUR][1000 genomes]
rs4723832	0.83[CHD][hapmap]
rs58647599	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6952466	0.94[MEX][hapmap]
rs6958617	0.88[ASN][1000 genomes]
rs7789925	0.83[CHD][hapmap]
rs953874	0.84[MEX][hapmap]
rs9639812	0.89[MEX][hapmap]
rs9655034	0.82[CHD][hapmap]

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	nsv1024142	chr7:38978728-39300444	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830968	chr7:39127531-39283543	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv428163	chr7:39127531-39283543	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1015572	chr7:39185895-39413053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv538821	chr7:39185895-39413053	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39215000-39247000	Weak transcription	Pancreas	Pancrea
2	chr7:39232000-39252400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:39241200-39241600	Enhancers	Fetal Stomach	stomach
4	chr7:39241200-39241800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:39241400-39241600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:39241400-39241800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:39241400-39241800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:39241400-39241800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr7:39241400-39241800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:39241400-39241800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:39241400-39241800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:39241400-39242200	Enhancers	HUES64 Cell Line	embryonic stem cell

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