Variant report

Variant	rs17733244
Chromosome Location	chr7:50575495-50575496
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	chr7:50570130..50572623-chr7:50573822..50576522,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10239830	0.90[EUR][1000 genomes]
rs10267323	0.92[EUR][1000 genomes]
rs10271341	1.00[CEU][hapmap];0.82[JPT][hapmap];0.92[EUR][1000 genomes]
rs10276473	1.00[CEU][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs10277662	0.92[EUR][1000 genomes]
rs11575320	1.00[CEU][hapmap];0.82[JPT][hapmap];0.92[EUR][1000 genomes]
rs11575463	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs11772714	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs12671474	0.92[EUR][1000 genomes]
rs1376524	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1807066	0.95[EUR][1000 genomes]
rs2060763	0.95[EUR][1000 genomes]
rs2242042	0.83[EUR][1000 genomes]
rs2329371	1.00[CEU][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs2876828	0.95[EUR][1000 genomes]
rs2876829	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28889020	0.95[EUR][1000 genomes]
rs3735273	0.80[CEU][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs3779078	1.00[CEU][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs3807552	0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs3807555	1.00[CEU][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes]
rs3807556	1.00[CEU][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs3807558	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6950777	0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs6963996	0.98[EUR][1000 genomes]
rs745042	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs745043	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7776816	0.95[EUR][1000 genomes]
rs7785224	0.90[CHB][hapmap]
rs7790758	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs880029	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs896307	1.00[CEU][hapmap]
rs896309	1.00[CEU][hapmap];0.86[JPT][hapmap];0.96[EUR][1000 genomes]
rs9942686	1.00[CEU][hapmap];0.92[EUR][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	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
3	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17733244	FIGNL1	cis	Heart Left Ventricle	GTEx
rs17733244	FIGNL1	cis	Thyroid	GTEx
rs17733244	FIGNL1	cis	lung	GTEx
rs17733244	FIGNL1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50543600-50595000	Weak transcription	Liver	Liver
2	chr7:50560800-50581000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:50565200-50609000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr7:50566200-50576000	Weak transcription	Colonic Mucosa	Colon
5	chr7:50566200-50581200	Strong transcription	Fetal Intestine Small	intestine
6	chr7:50569000-50592800	Weak transcription	HepG2	liver
7	chr7:50570800-50576200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:50571000-50576000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:50571000-50580200	Weak transcription	Pancreas	Pancrea
10	chr7:50571000-50582400	Weak transcription	Right Atrium	heart
11	chr7:50571200-50576000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr7:50571800-50576200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:50572400-50577000	Strong transcription	Duodenum Mucosa	Duodenum
14	chr7:50573000-50575600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:50573000-50577000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:50573800-50575600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:50574000-50575800	Weak transcription	Thymus	Thymus
18	chr7:50574400-50575600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:50574400-50575600	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:50574400-50575800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:50574600-50575600	Weak transcription	Fetal Thymus	thymus
22	chr7:50574600-50575600	Weak transcription	Psoas Muscle	Psoas
23	chr7:50575200-50575600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr7:50575400-50578000	Strong transcription	Fetal Intestine Large	intestine

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