Variant report

Variant	rs4947510
Chromosome Location	chr7:50525420-50525421
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	chr7:50518016..50520621-chr7:50523488..50525789,2	K562	blood:

Variant related genes	Relation type
ENSG00000132436	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10230307	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10230343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232974	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10239496	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10243511	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238133	0.86[CHD][hapmap]
rs11761683	0.86[CHD][hapmap]
rs11768267	0.83[CHD][hapmap]
rs1451373	0.85[JPT][hapmap]
rs1451376	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2060762	0.95[JPT][hapmap]
rs2305358	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3735275	0.95[JPT][hapmap]
rs4947437	0.93[AFR][1000 genomes]
rs4947954	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4947980	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6945253	0.83[CHB][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap];0.83[ASN][1000 genomes]
rs7790230	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7803247	0.81[CHD][hapmap]
rs896309	0.80[JPT][hapmap]
rs935795	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs4947510	FIGNL1	cis	Esophagus Muscularis	GTEx
rs4947510	AL137474	cis	multi-tissue	Pritchard
rs4947510	FIGNL1	cis	lung	GTEx
rs4947510	FIGNL1	cis	parietal	SCAN
rs4947510	FIGNL1	cis	Skin Sun Exposed Lower leg	GTEx
rs4947510	IKZF1	cis	lymphoblastoid	seeQTL
rs4947510	FIGNL1	cis	cerebellum	SCAN
rs4947510	FIGNL1	cis	Thyroid	GTEx
rs4947510	FIGNL1	cis	multi-tissue	Pritchard
rs4947510	FIGNL1	cis	Nerve Tibial	GTEx
rs4947510	FIGNL1	cis	Artery Tibial	GTEx
rs4947510	FIGNL1	cis	Adipose Subcutaneous	GTEx
rs4947510	ZPBP	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50518800-50535400	Weak transcription	Pancreas	Pancrea
2	chr7:50518800-50535600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:50518800-50535600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:50518800-50535600	Weak transcription	HepG2	liver
5	chr7:50519000-50529400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:50524800-50530000	Weak transcription	Liver	Liver
7	chr7:50525000-50526400	Strong transcription	Duodenum Mucosa	Duodenum
8	chr7:50525000-50526400	Strong transcription	Fetal Intestine Large	intestine
9	chr7:50525000-50527200	Strong transcription	Fetal Intestine Small	intestine

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