Variant report

Variant	rs4506594
Chromosome Location	chr10:45384811-45384812
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	chr10:45379700..45381964-chr10:45383952..45385885,2	K562	blood:
2	chr10:45382469..45386728-chr10:45387327..45390738,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10793562	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10793563	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793564	0.98[ASN][1000 genomes]
rs10900125	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10900126	0.99[ASN][1000 genomes]
rs1332625	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1977324	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2026427	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2065466	1.00[ASN][1000 genomes]
rs2183994	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2281840	0.87[CHB][hapmap];0.85[JPT][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3740086	0.85[EUR][1000 genomes]
rs3740087	0.82[EUR][1000 genomes]
rs3900184	0.99[ASN][1000 genomes]
rs4147126	0.88[TSI][hapmap]
rs4245614	0.84[ASN][1000 genomes]
rs4268464	0.82[ASN][1000 genomes]
rs4284362	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4439464	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4948642	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4948643	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4948644	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4948645	0.92[ASN][1000 genomes]
rs4948921	0.93[ASN][1000 genomes]
rs4948922	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4948924	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5000415	1.00[ASN][1000 genomes]
rs7082011	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7099692	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7894608	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7900859	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7903412	1.00[ASN][1000 genomes]
rs879073	0.83[ASN][1000 genomes]
rs879074	0.82[ASN][1000 genomes]
rs879343	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs879344	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	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
4	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
rs4506594	RASSF4	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45375200-45398600	Weak transcription	Right Atrium	heart
2	chr10:45376200-45389600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:45383600-45387200	Enhancers	Rectal Mucosa Donor 29	rectum
4	chr10:45383800-45385800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr10:45384200-45385000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:45384200-45387000	Enhancers	Duodenum Mucosa	Duodenum
7	chr10:45384200-45387200	Enhancers	Colonic Mucosa	Colon
8	chr10:45384400-45386600	Weak transcription	Fetal Intestine Small	intestine
9	chr10:45384800-45387200	Enhancers	Sigmoid Colon	Sigmoid Colon

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