Variant report

Variant	rs7237577
Chromosome Location	chr18:13360231-13360232
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	chr18:13359242..13361866-chr18:13361991..13364935,2	MCF-7	breast:
2	chr18:13354202..13357838-chr18:13358559..13361053,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10084046	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1107340	0.88[CEU][hapmap];0.91[JPT][hapmap]
rs1107341	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11080642	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs11080646	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12959077	0.82[AFR][1000 genomes]
rs12959091	0.84[CHB][hapmap]
rs16940349	0.86[CHB][hapmap];0.86[CHD][hapmap];0.82[LWK][hapmap]
rs17681406	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1840267	0.89[AFR][1000 genomes]
rs2085050	0.82[CHB][hapmap]
rs2187501	0.85[AFR][1000 genomes]
rs2187502	0.82[CHB][hapmap];0.89[CHD][hapmap];0.82[LWK][hapmap];0.82[MEX][hapmap]
rs2276392	0.82[CHB][hapmap];0.87[CHD][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];0.80[ASN][1000 genomes]
rs2867874	0.86[CHB][hapmap]
rs4570934	0.82[CHB][hapmap]
rs4570935	0.86[CHB][hapmap];0.82[YRI][hapmap]
rs4602105	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4797764	0.91[JPT][hapmap]
rs6505798	0.86[MEX][hapmap]
rs6505802	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6505807	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6505808	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7226901	0.82[CHB][hapmap]
rs7227361	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7229983	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7231366	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7234501	0.82[CHB][hapmap]
rs7236152	0.80[CHB][hapmap]
rs7236934	0.81[AMR][1000 genomes]
rs7237181	0.84[AFR][1000 genomes]
rs7241410	0.86[CHB][hapmap]
rs7241438	0.86[CHD][hapmap];0.82[LWK][hapmap]
rs7242024	0.86[CHB][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7242140	0.91[CHB][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs8087505	0.94[ASW][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.89[LWK][hapmap];0.82[MEX][hapmap];0.82[AFR][1000 genomes]
rs8088874	0.90[ASN][1000 genomes]
rs8094197	0.87[CHB][hapmap]
rs930797	0.86[CHB][hapmap];0.93[CHD][hapmap];0.87[LWK][hapmap]
rs930798	0.88[ASW][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.89[LWK][hapmap];0.82[MEX][hapmap];0.83[AFR][1000 genomes]
rs930799	0.86[CHB][hapmap];0.93[CHD][hapmap]
rs949259	0.91[CHB][hapmap];0.83[AFR][1000 genomes]
rs981621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9946524	0.86[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs9947830	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9948620	0.96[CEU][hapmap];0.98[GIH][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9952682	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9952836	0.82[GIH][hapmap];0.82[MEX][hapmap]
rs9953274	0.82[CHB][hapmap];0.89[CHD][hapmap];0.81[MEX][hapmap]
rs9954359	0.82[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs9954816	0.96[ASN][1000 genomes]
rs9957334	0.93[ASN][1000 genomes]
rs9960893	0.82[AMR][1000 genomes];0.94[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	nsv531246	chr18:13298774-14082028	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7237577	AFG3L2	cis	cerebellum	SCAN
rs7237577	TUBB6	cis	cerebellum	SCAN
rs7237577	C18orf19	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13351800-13374800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr18:13353800-13361000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr18:13353800-13361600	Weak transcription	Right Atrium	heart
4	chr18:13354200-13371800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr18:13354200-13372000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr18:13354400-13371200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr18:13355000-13374200	Weak transcription	Dnd41	blood
8	chr18:13356200-13360800	Weak transcription	Right Ventricle	heart
9	chr18:13356400-13379200	Weak transcription	Aorta	Aorta
10	chr18:13358800-13360400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr18:13359400-13360400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr18:13359400-13361000	Weak transcription	Thymus	Thymus
13	chr18:13359400-13361600	Weak transcription	Left Ventricle	heart
14	chr18:13359400-13379400	Weak transcription	Psoas Muscle	Psoas
15	chr18:13359800-13362200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr18:13359800-13364400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr18:13360000-13361400	Weak transcription	Brain Anterior Caudate	brain
18	chr18:13360000-13362200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr18:13360000-13363000	Genic enhancers	Fetal Thymus	thymus
20	chr18:13360000-13364800	Weak transcription	Spleen	Spleen
21	chr18:13360000-13366600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr18:13360200-13360400	Enhancers	Fetal Heart	heart
23	chr18:13360200-13366800	Weak transcription	Brain Substantia Nigra	brain

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