Variant report

Variant	rs7803247
Chromosome Location	chr7:50540743-50540744
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	chr7:50540382..50543888-chr7:50545544..50548848,3	K562	blood:

Variant related genes	Relation type
ENSG00000132437	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10230343	0.81[CHD][hapmap]
rs10899734	0.85[CEU][hapmap];0.82[CHB][hapmap];0.87[GIH][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10899735	0.85[CEU][hapmap];0.82[CHB][hapmap];0.87[GIH][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11238131	0.91[JPT][hapmap];0.81[MKK][hapmap]
rs11238138	0.85[CEU][hapmap];0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11575423	0.87[EUR][1000 genomes]
rs11575457	0.85[CEU][hapmap];0.82[CHB][hapmap];0.87[GIH][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11575461	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11575534	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11763807	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11763809	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11768267	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11980368	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12718527	0.85[CEU][hapmap];0.82[CHB][hapmap];0.87[GIH][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12718528	0.85[CEU][hapmap];0.82[CHB][hapmap];0.91[GIH][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12718529	0.85[CEU][hapmap];0.82[CHB][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12718541	0.84[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12718558	0.86[EUR][1000 genomes]
rs13311361	0.85[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1349492	0.85[CEU][hapmap];0.82[CHB][hapmap];0.87[GIH][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1451371	0.82[CHB][hapmap]
rs1451372	0.85[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1597639	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1901313	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2122822	0.85[CEU][hapmap];0.81[CHB][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2167367	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2305358	0.81[CHD][hapmap]
rs2329365	0.85[CEU][hapmap];0.86[CHB][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2876827	0.88[CEU][hapmap];0.85[CHB][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3470	0.87[EUR][1000 genomes]
rs3779082	0.87[EUR][1000 genomes]
rs3779083	0.87[EUR][1000 genomes]
rs3887825	0.85[CEU][hapmap];0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4329234	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs4433100	0.85[CEU][hapmap];0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4436083	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4579483	0.84[CEU][hapmap];0.90[EUR][1000 genomes]
rs4580999	0.85[CEU][hapmap];0.82[CHB][hapmap];0.87[GIH][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4947510	0.81[CHD][hapmap]
rs4947577	0.85[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4948196	0.85[CEU][hapmap];0.82[CHB][hapmap];0.87[GIH][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4989851	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4992502	0.85[CEU][hapmap];0.82[CHB][hapmap];0.87[GIH][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6592952	0.82[CEU][hapmap];0.86[GIH][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs6945253	0.89[CHD][hapmap]
rs6953675	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs730092	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs732215	0.90[CHB][hapmap];0.88[CHD][hapmap];0.87[ASN][1000 genomes]
rs7802199	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv888021	chr7:50538589-50610071	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs7803247	FIGNL1	cis	lung	GTEx
rs7803247	FIGNL1	cis	parietal	SCAN
rs7803247	C7orf72	cis	parietal	SCAN
rs7803247	FIGNL1	cis	Thyroid	GTEx
rs7803247	FIGNL1	cis	Skin Sun Exposed Lower leg	GTEx
rs7803247	FIGNL1	cis	Esophagus Muscularis	GTEx
rs7803247	FIGNL1	cis	Artery Tibial	GTEx
rs7803247	FIGNL1	cis	Nerve Tibial	GTEx
rs7803247	FIGNL1	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50535800-50540800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr7:50535800-50546800	Weak transcription	Pancreas	Pancrea
3	chr7:50535800-50553200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:50536000-50542800	Weak transcription	Colonic Mucosa	Colon
5	chr7:50536200-50541400	Weak transcription	HepG2	liver
6	chr7:50536200-50542200	Strong transcription	Fetal Intestine Small	intestine
7	chr7:50536200-50545400	Weak transcription	Right Atrium	heart
8	chr7:50536400-50541400	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:50536400-50541600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:50536400-50541800	Strong transcription	Fetal Intestine Large	intestine
11	chr7:50536600-50543000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:50538600-50540800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr7:50539600-50540800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:50540600-50542800	Enhancers	Stomach Smooth Muscle	stomach

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