Variant report

Variant	rs7477198
Chromosome Location	chr10:45419744-45419745
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45419232..45422212-chr10:45424408..45426713,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10751362	0.94[CEU][hapmap];0.95[CHB][hapmap];0.84[GIH][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10793569	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10900130	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10900131	0.89[JPT][hapmap]
rs10900132	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs11239278	0.83[JPT][hapmap]
rs11239281	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11239282	0.89[JPT][hapmap]
rs1332622	0.81[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap]
rs1332623	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2026426	0.80[EUR][1000 genomes]
rs4396240	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs4543933	0.83[JPT][hapmap]
rs4948646	0.85[EUR][1000 genomes]
rs4948931	0.88[CEU][hapmap];0.95[GIH][hapmap];0.80[JPT][hapmap];0.85[TSI][hapmap]
rs4948933	0.89[EUR][1000 genomes]
rs6593450	0.89[EUR][1000 genomes]
rs7067692	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs7068765	0.82[EUR][1000 genomes]
rs7077388	0.83[JPT][hapmap]
rs7085840	0.81[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap]
rs7096289	0.89[EUR][1000 genomes]
rs7100544	0.84[CEU][hapmap];0.89[EUR][1000 genomes]
rs7911339	0.83[JPT][hapmap]
rs7923073	0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs7923091	0.84[CEU][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs867317	0.96[EUR][1000 genomes]
rs914695	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs914696	0.96[EUR][1000 genomes]
rs932986	0.83[JPT][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	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
2	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
3	nsv466909	chr10:45408011-45446791	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv550714	chr10:45408011-45446791	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3374788	chr10:45419346-45423644	Genic enhancers Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7477198	RASGEF1A	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45407800-45422800	Weak transcription	Ovary	ovary
2	chr10:45410200-45430400	Weak transcription	Gastric	stomach
3	chr10:45413200-45420400	Weak transcription	Fetal Kidney	kidney
4	chr10:45413400-45428200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr10:45415400-45420000	Weak transcription	HSMMtube	muscle
6	chr10:45416200-45419800	Weak transcription	Fetal Muscle Leg	muscle
7	chr10:45417000-45434000	Weak transcription	Fetal Brain Female	brain
8	chr10:45417800-45422400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr10:45418800-45420800	Weak transcription	Spleen	Spleen
10	chr10:45418800-45424800	Weak transcription	Colonic Mucosa	Colon
11	chr10:45419200-45420200	Weak transcription	Lung	lung
12	chr10:45419200-45420200	Weak transcription	Pancreas	Pancrea
13	chr10:45419400-45420800	Enhancers	Fetal Thymus	thymus
14	chr10:45419600-45420400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:45419600-45421000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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