Variant report

Variant	rs4948643
Chromosome Location	chr10:45379759-45379760
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45379700..45381964-chr10:45383952..45385885,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10793562	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793563	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10793564	0.96[ASN][1000 genomes]
rs10900125	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10900126	0.98[ASN][1000 genomes]
rs1332625	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1977324	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2026427	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2065466	0.99[ASN][1000 genomes]
rs2183994	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2281840	0.87[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs3740086	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3740087	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3900184	1.00[ASN][1000 genomes]
rs4245614	0.82[ASN][1000 genomes]
rs4268464	0.80[ASN][1000 genomes]
rs4284362	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4439464	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4506594	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4948642	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4948644	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4948645	0.91[ASN][1000 genomes]
rs4948921	0.92[ASN][1000 genomes]
rs4948922	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4948924	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5000415	0.99[ASN][1000 genomes]
rs7082011	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7099692	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7894608	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7900859	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7903412	0.99[ASN][1000 genomes]
rs879073	0.82[ASN][1000 genomes]
rs879074	0.80[ASN][1000 genomes]
rs879343	0.86[EUR][1000 genomes]
rs879344	0.86[EUR][1000 genomes];0.80[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	nsv517161	chr10:45210690-45416256	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1050496	chr10:45227530-45382154	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831844	chr10:45228791-45407762	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4948643	RASSF4	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45374800-45381600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr10:45375200-45398600	Weak transcription	Right Atrium	heart
3	chr10:45375800-45384200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:45376200-45389600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:45378400-45380000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr10:45379400-45380200	Weak transcription	Pancreas	Pancrea
7	chr10:45379400-45380400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr10:45379600-45379800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr10:45379600-45379800	Enhancers	Primary hematopoietic stem cells	blood
10	chr10:45379600-45379800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:45379600-45381000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links