Variant report

Variant	rs11748145
Chromosome Location	chr5:112941326-112941327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10039853	0.88[CEU][hapmap]
rs10061552	0.88[CEU][hapmap]
rs10071816	0.88[CEU][hapmap]
rs10079895	0.88[CEU][hapmap]
rs10079973	0.88[CEU][hapmap]
rs10080096	0.83[CEU][hapmap]
rs10477497	0.82[CEU][hapmap]
rs10478127	0.88[CEU][hapmap]
rs11241214	0.88[CEU][hapmap]
rs11241215	0.82[CEU][hapmap]
rs11747924	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs11748794	0.94[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11749931	0.88[CEU][hapmap]
rs11956399	0.88[CEU][hapmap]
rs12186798	0.88[CEU][hapmap]
rs12517582	0.89[AMR][1000 genomes]
rs12519323	0.94[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12660001	0.88[CEU][hapmap]
rs17135608	1.00[JPT][hapmap]
rs17135616	1.00[JPT][hapmap];0.86[YRI][hapmap]
rs17135630	1.00[JPT][hapmap];0.81[YRI][hapmap]
rs17135753	0.94[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17135754	0.94[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1833678	0.94[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2042222	0.94[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2195380	0.93[ASN][1000 genomes]
rs2288449	0.88[CEU][hapmap]
rs2416281	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28842543	0.88[ASN][1000 genomes]
rs3763140	0.88[CEU][hapmap]
rs3815911	0.87[CEU][hapmap]
rs3846721	1.00[JPT][hapmap];0.83[YRI][hapmap]
rs3846722	0.94[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs3936061	0.88[CEU][hapmap]
rs4122546	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4334877	0.82[CEU][hapmap]
rs4588592	0.88[CEU][hapmap]
rs4705551	0.94[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4705557	0.88[CEU][hapmap]
rs4705558	0.94[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4705819	1.00[JPT][hapmap]
rs4705826	0.94[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs57077871	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6594734	0.88[CEU][hapmap]
rs6594737	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs66490974	0.84[EUR][1000 genomes]
rs66497221	0.86[EUR][1000 genomes]
rs67020702	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67103739	0.86[EUR][1000 genomes]
rs67723806	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6859688	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6864369	0.94[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6877432	0.83[CEU][hapmap]
rs6878001	0.94[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs6879800	1.00[JPT][hapmap]
rs6883383	0.88[CEU][hapmap]
rs6883441	0.94[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[EUR][1000 genomes]
rs6884704	0.82[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6886628	0.88[CEU][hapmap]
rs6889574	0.88[CEU][hapmap]
rs6896469	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6896501	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72794121	0.85[EUR][1000 genomes]
rs72805465	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73241779	0.84[EUR][1000 genomes]
rs73242809	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73247445	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7349799	0.81[CEU][hapmap]
rs7702833	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7705562	0.88[CEU][hapmap]
rs7706958	0.88[CEU][hapmap]
rs7707443	0.93[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[EUR][1000 genomes]
rs7711078	0.81[CEU][hapmap]
rs7711211	0.88[CEU][hapmap]
rs7711367	0.88[CEU][hapmap]
rs7729433	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7737023	0.88[CEU][hapmap]
rs919304	0.88[CEU][hapmap]
rs9326893	0.88[CEU][hapmap]
rs957777	0.94[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882721	chr5:112859994-112963488	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv1033202	chr5:112891857-112945992	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv520674	chr5:112911165-112942820	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	esv2752057	chr5:112916398-112945992	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv1029507	chr5:112916398-112945992	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	esv2763910	chr5:112916398-112951827	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv1031336	chr5:112916398-112956588	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11748145	YTHDC2	cis	multi-tissue	Pritchard

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112910600-112942000	Weak transcription	Brain Substantia Nigra	brain
2	chr5:112910800-112942200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:112917200-112942000	Weak transcription	K562	blood
4	chr5:112920800-112942000	Weak transcription	Ovary	ovary
5	chr5:112927200-112941800	Weak transcription	HUVEC	blood vessel
6	chr5:112929200-112941400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:112929800-112942000	Weak transcription	NH-A	brain
8	chr5:112929800-112943800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:112930000-112941800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:112930000-112941800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:112930000-112942000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:112930000-112942200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:112930000-112943800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:112930000-112944000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:112930200-112942000	Weak transcription	Left Ventricle	heart
16	chr5:112930200-112944000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:112930400-112942000	Weak transcription	A549	lung
18	chr5:112930800-112942200	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:112931400-112943600	Weak transcription	NHDF-Ad	bronchial
20	chr5:112931800-112941800	Weak transcription	Placenta	Placenta
21	chr5:112931800-112943600	Weak transcription	Dnd41	blood
22	chr5:112932600-112942200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:112933600-112941800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:112933600-112942000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:112933800-112943800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:112937200-112941800	Weak transcription	Right Atrium	heart
27	chr5:112939400-112942000	Weak transcription	HMEC	breast
28	chr5:112939600-112942200	Weak transcription	NHEK	skin
29	chr5:112941200-112941800	Weak transcription	Brain Cingulate Gyrus	brain

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