Variant report

Variant	rs4705826
Chromosome Location	chr5:112870387-112870388
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112867415..112871234-chr5:112874702..112879170,5	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10039853	0.94[CEU][hapmap]
rs10053582	0.81[CEU][hapmap]
rs10061552	0.94[CEU][hapmap]
rs10071816	0.94[CEU][hapmap]
rs10079895	0.94[CEU][hapmap]
rs10079973	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs10080096	0.89[CEU][hapmap]
rs10428666	1.00[JPT][hapmap]
rs10477497	0.88[CEU][hapmap]
rs10478127	0.94[CEU][hapmap]
rs10900685	1.00[JPT][hapmap]
rs1116547	1.00[JPT][hapmap]
rs11241201	1.00[JPT][hapmap]
rs11241206	1.00[JPT][hapmap]
rs11241214	0.94[CEU][hapmap]
rs11241215	0.88[CEU][hapmap]
rs11738075	1.00[JPT][hapmap]
rs11738215	1.00[JPT][hapmap]
rs11747924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748145	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11748794	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11749931	0.94[CEU][hapmap]
rs11750945	0.88[JPT][hapmap]
rs11956399	0.94[CEU][hapmap]
rs12186798	0.94[CEU][hapmap]
rs12516418	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12519323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12523255	1.00[JPT][hapmap]
rs12652172	0.82[EUR][1000 genomes]
rs12660001	0.94[CEU][hapmap]
rs17135597	1.00[JPT][hapmap]
rs17135608	1.00[JPT][hapmap]
rs17135616	1.00[JPT][hapmap];0.83[YRI][hapmap]
rs17135630	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17135753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17135754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1833678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1850410	1.00[JPT][hapmap]
rs2042222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288449	0.94[CEU][hapmap]
rs2416281	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3763140	0.94[CEU][hapmap]
rs3815911	0.94[CEU][hapmap]
rs3846721	1.00[JPT][hapmap];0.84[YRI][hapmap]
rs3846722	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3936061	0.94[CEU][hapmap]
rs4122546	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4334877	0.88[CEU][hapmap]
rs4588592	0.94[CEU][hapmap]
rs4705551	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4705557	0.94[CEU][hapmap]
rs4705558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4705814	1.00[JPT][hapmap]
rs4705817	1.00[JPT][hapmap]
rs4705819	1.00[JPT][hapmap]
rs57077871	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6594734	0.94[CEU][hapmap]
rs66490974	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66497221	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67020702	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67103739	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67723806	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6859688	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6864369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6864528	1.00[JPT][hapmap]
rs6877432	0.89[CEU][hapmap]
rs6878001	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6879800	1.00[JPT][hapmap];0.81[YRI][hapmap]
rs6883383	0.94[CEU][hapmap]
rs6883441	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6884704	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6886628	0.94[CEU][hapmap]
rs6889574	0.94[CEU][hapmap]
rs6896469	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6896501	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6898425	0.82[CEU][hapmap]
rs72794121	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241779	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73242809	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73247445	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7349799	0.87[CEU][hapmap]
rs7702833	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7705562	0.94[CEU][hapmap]
rs7706958	0.94[CEU][hapmap]
rs7707443	1.00[CEU][hapmap];0.88[JPT][hapmap];0.81[YRI][hapmap];0.81[EUR][1000 genomes]
rs7711078	0.87[CEU][hapmap]
rs7711211	0.94[CEU][hapmap]
rs7711367	0.94[CEU][hapmap]
rs7717000	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7729433	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7737023	0.94[CEU][hapmap]
rs919304	0.94[CEU][hapmap]
rs9326893	0.94[CEU][hapmap]
rs957777	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882720	chr5:112859994-112911165	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	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
3	nsv882722	chr5:112868878-112899573	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv882723	chr5:112868878-112911165	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv882724	chr5:112868878-112933202	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4705826	YTHDC2	Cis_1M	lymphoblastoid	RTeQTL
rs4705826	YTHDC2	cis	multi-tissue	Pritchard

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112850400-112879000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:112850400-112879200	Weak transcription	Gastric	stomach
3	chr5:112850400-112904000	Weak transcription	Psoas Muscle	Psoas
4	chr5:112850600-112874800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:112850600-112879200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:112850600-112908400	Weak transcription	Colonic Mucosa	Colon
7	chr5:112851400-112879000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:112851600-112893200	Weak transcription	Fetal Brain Male	brain
9	chr5:112851600-112902800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:112852400-112878800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:112852400-112882200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:112852400-112882200	Weak transcription	Fetal Heart	heart
13	chr5:112853200-112882400	Weak transcription	Brain Angular Gyrus	brain
14	chr5:112857000-112877600	Weak transcription	HepG2	liver
15	chr5:112858800-112876000	Weak transcription	Brain Anterior Caudate	brain
16	chr5:112858800-112882000	Weak transcription	Brain Substantia Nigra	brain
17	chr5:112858800-112882200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:112860400-112879000	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:112860400-112882200	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:112862800-112891200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr5:112864200-112882200	Weak transcription	Stomach Mucosa	stomach
22	chr5:112866000-112878000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:112867000-112882000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr5:112867000-112888200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:112867000-112910000	Weak transcription	Right Ventricle	heart
26	chr5:112867200-112870600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr5:112867200-112870800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:112867200-112871000	Weak transcription	Osteobl	bone
29	chr5:112867200-112871800	Strong transcription	HSMM	muscle
30	chr5:112867200-112873600	Weak transcription	K562	blood
31	chr5:112867200-112878800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr5:112867200-112880600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:112867200-112882400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr5:112867200-112903400	Weak transcription	Pancreas	Pancrea
35	chr5:112867200-112904000	Weak transcription	Lung	lung
36	chr5:112867200-112904200	Weak transcription	Aorta	Aorta
37	chr5:112867200-112909800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:112867200-112909800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:112867200-112910000	Weak transcription	Esophagus	oesophagus
40	chr5:112867400-112871800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:112867400-112871800	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr5:112867400-112873600	Weak transcription	Left Ventricle	heart
43	chr5:112867400-112875000	Weak transcription	Brain Germinal Matrix	brain
44	chr5:112867400-112878800	Weak transcription	Thymus	Thymus
45	chr5:112867400-112879000	Weak transcription	NHLF	lung
46	chr5:112867400-112879200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr5:112867400-112879200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr5:112867400-112882200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:112867400-112888000	Weak transcription	HSMMtube	muscle
50	chr5:112867400-112888800	Weak transcription	Ovary	ovary

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