Variant report

Variant	rs11747924
Chromosome Location	chr5:112867817-112867818
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	chr5:112867415..112871234-chr5:112874702..112879170,5	K562	blood:
2	chr5:112850936..112852502-chr5:112866193..112868718,2	K562	blood:

Extended variants
information (count: 124 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10039853	1.00[CEU][hapmap]
rs10040203	0.83[CEU][hapmap]
rs10046057	0.83[CEU][hapmap]
rs10053582	0.80[CEU][hapmap]
rs10061552	1.00[CEU][hapmap]
rs10071816	1.00[CEU][hapmap]
rs10079895	1.00[CEU][hapmap]
rs10079973	1.00[CEU][hapmap]
rs10080096	0.94[CEU][hapmap]
rs1017209	0.83[CEU][hapmap]
rs10477495	0.83[CEU][hapmap]
rs10477497	0.94[CEU][hapmap]
rs10477499	0.83[CEU][hapmap]
rs10477500	0.83[CEU][hapmap]
rs10478127	1.00[CEU][hapmap]
rs10478129	0.83[CEU][hapmap]
rs10478132	0.83[CEU][hapmap]
rs1052896	0.82[CEU][hapmap]
rs10900685	1.00[JPT][hapmap]
rs1116547	0.84[JPT][hapmap]
rs11241201	0.84[JPT][hapmap]
rs11241206	0.84[JPT][hapmap]
rs11241214	1.00[CEU][hapmap]
rs11241215	0.87[CEU][hapmap]
rs11738075	0.85[JPT][hapmap]
rs11738215	0.84[JPT][hapmap]
rs11748145	0.88[EUR][1000 genomes]
rs11748794	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11749931	1.00[CEU][hapmap]
rs11750945	0.86[JPT][hapmap]
rs11956399	1.00[CEU][hapmap]
rs12186798	1.00[CEU][hapmap]
rs12516418	1.00[JPT][hapmap]
rs12519323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12523255	0.82[JPT][hapmap]
rs12660001	1.00[CEU][hapmap]
rs13362066	0.83[CEU][hapmap]
rs17135597	0.84[JPT][hapmap]
rs17135608	0.85[JPT][hapmap]
rs17135616	0.85[JPT][hapmap];0.85[YRI][hapmap]
rs17135630	1.00[JPT][hapmap];0.80[YRI][hapmap];0.81[ASN][1000 genomes]
rs17135753	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.87[YRI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17135754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1833678	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.91[YRI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1850410	0.84[JPT][hapmap]
rs2042222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288449	1.00[CEU][hapmap]
rs2416281	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3763138	0.83[CEU][hapmap]
rs3763140	1.00[CEU][hapmap]
rs3815911	1.00[CEU][hapmap]
rs3842917	0.83[CEU][hapmap]
rs3846721	0.84[JPT][hapmap];0.83[YRI][hapmap]
rs3846722	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3936061	1.00[CEU][hapmap]
rs4122546	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4132094	0.82[EUR][1000 genomes]
rs4334877	0.93[CEU][hapmap]
rs4588592	1.00[CEU][hapmap]
rs4705551	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4705557	1.00[CEU][hapmap]
rs4705558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4705814	0.85[JPT][hapmap]
rs4705817	0.82[JPT][hapmap]
rs4705823	0.82[CEU][hapmap]
rs4705825	0.83[CEU][hapmap]
rs4705826	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]
rs4705827	0.83[CEU][hapmap]
rs4705828	0.81[CEU][hapmap]
rs57077871	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6594721	0.82[CEU][hapmap]
rs6594732	0.83[CEU][hapmap]
rs6594733	0.83[CEU][hapmap]
rs6594734	1.00[CEU][hapmap]
rs66490974	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66497221	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67020702	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67103739	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67723806	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6859688	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6861786	0.85[EUR][1000 genomes]
rs6864369	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.96[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6864528	0.84[JPT][hapmap]
rs6865809	0.83[CEU][hapmap]
rs6877432	0.94[CEU][hapmap]
rs6878001	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6879800	1.00[JPT][hapmap]
rs6882900	0.85[EUR][1000 genomes]
rs6883383	1.00[CEU][hapmap]
rs6883441	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6884704	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6886628	1.00[CEU][hapmap]
rs6887816	0.83[CEU][hapmap]
rs6889574	1.00[CEU][hapmap]
rs6896469	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6896501	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6898425	0.86[CEU][hapmap]
rs72794121	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72805465	0.84[EUR][1000 genomes]
rs73241779	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73242809	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73247445	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7349799	0.93[CEU][hapmap]
rs7702833	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7705562	1.00[CEU][hapmap]
rs7706958	1.00[CEU][hapmap]
rs7707443	1.00[CEU][hapmap];0.82[YRI][hapmap];0.89[EUR][1000 genomes]
rs7711078	0.86[CEU][hapmap]
rs7711211	1.00[CEU][hapmap]
rs7711367	1.00[CEU][hapmap]
rs7713038	0.83[CEU][hapmap]
rs7713451	0.83[CEU][hapmap]
rs7717000	1.00[JPT][hapmap]
rs7729306	0.83[CEU][hapmap]
rs7729433	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7730949	0.83[CEU][hapmap]
rs7737023	1.00[CEU][hapmap]
rs919304	1.00[CEU][hapmap]
rs929774	0.82[CEU][hapmap]
rs9326893	1.00[CEU][hapmap]
rs957777	1.00[CEU][hapmap];0.85[JPT][hapmap];0.92[YRI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv969205	chr5:112860167-112867961	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11747924	YTHDC2	cis	multi-tissue	Pritchard
rs11747924	YTHDC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 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	chr5:112850600-112868600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:112850600-112874800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:112850600-112879200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:112850600-112908400	Weak transcription	Colonic Mucosa	Colon
8	chr5:112851400-112879000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr5:112851600-112893200	Weak transcription	Fetal Brain Male	brain
10	chr5:112851600-112902800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:112852400-112878800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:112852400-112882200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:112852400-112882200	Weak transcription	Fetal Heart	heart
14	chr5:112853200-112882400	Weak transcription	Brain Angular Gyrus	brain
15	chr5:112857000-112877600	Weak transcription	HepG2	liver
16	chr5:112858800-112876000	Weak transcription	Brain Anterior Caudate	brain
17	chr5:112858800-112882000	Weak transcription	Brain Substantia Nigra	brain
18	chr5:112858800-112882200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:112860400-112879000	Weak transcription	Brain Hippocampus Middle	brain
20	chr5:112860400-112882200	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:112861000-112869800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr5:112861400-112868600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:112861800-112869800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr5:112862800-112891200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr5:112864200-112882200	Weak transcription	Stomach Mucosa	stomach
26	chr5:112864400-112869600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:112864800-112868000	ZNF genes & repeats	Dnd41	blood
28	chr5:112865200-112868800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr5:112865600-112868000	ZNF genes & repeats	Primary T cells from cord blood	blood
30	chr5:112865600-112868800	ZNF genes & repeats	GM12878-XiMat	blood
31	chr5:112865600-112869000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:112866000-112868200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr5:112866000-112878000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:112866200-112868000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:112866200-112868000	ZNF genes & repeats	NHEK	skin
36	chr5:112866200-112868200	ZNF genes & repeats	Primary B cells from cord blood	blood
37	chr5:112866200-112868200	ZNF genes & repeats	Fetal Lung	lung
38	chr5:112866400-112868200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
39	chr5:112866400-112868800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
40	chr5:112866600-112868000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:112866600-112868000	ZNF genes & repeats	Adipose Nuclei	Adipose
42	chr5:112866600-112868600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr5:112866600-112868800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:112866600-112868800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:112866800-112868000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
46	chr5:112867000-112868000	Enhancers	Hela-S3	cervix
47	chr5:112867000-112882000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr5:112867000-112888200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:112867000-112910000	Weak transcription	Right Ventricle	heart
50	chr5:112867200-112868200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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