Variant report

Variant	rs17135766
Chromosome Location	chr5:112933861-112933862
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	chr5:112672794..112674511-chr5:112933592..112935108,2	MCF-7	breast:

Extended variants
information (count: 171 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:164)

rs_ID	r²[population]
rs10036298	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10036300	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10038632	0.89[ASN][1000 genomes]
rs10039853	0.83[ASN][1000 genomes]
rs10040203	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10040430	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10040516	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10042563	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10043066	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10046057	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10052077	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10053582	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10061552	0.87[ASN][1000 genomes]
rs10063008	0.90[ASN][1000 genomes]
rs10065616	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10071816	0.83[ASN][1000 genomes]
rs10072547	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10076131	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10079603	0.87[ASN][1000 genomes]
rs10079758	0.83[ASN][1000 genomes]
rs10079895	0.83[ASN][1000 genomes]
rs10079973	0.83[ASN][1000 genomes]
rs10080096	0.83[ASN][1000 genomes]
rs1017209	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1035888	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10477495	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10477497	0.83[ASN][1000 genomes]
rs10477498	0.83[ASN][1000 genomes]
rs10477499	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10477500	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478126	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10478127	0.83[ASN][1000 genomes]
rs10478129	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10478132	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1052896	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1080858	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11241210	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11241211	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11241212	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11241214	0.87[ASN][1000 genomes]
rs11241215	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11742968	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11749931	0.83[ASN][1000 genomes]
rs11750488	0.80[EUR][1000 genomes]
rs11956399	0.83[ASN][1000 genomes]
rs12186798	0.83[ASN][1000 genomes]
rs12514105	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12516911	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12519315	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12652172	0.83[ASN][1000 genomes]
rs12654189	0.83[ASN][1000 genomes]
rs12660001	0.83[ASN][1000 genomes]
rs13359625	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13359648	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13359652	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13359703	0.89[ASN][1000 genomes]
rs13362066	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1549628	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17135776	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1820059	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1833680	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1833681	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1862315	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1970798	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2115216	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2162842	0.83[ASN][1000 genomes]
rs2162847	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2288449	0.89[ASN][1000 genomes]
rs2416319	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28558374	0.83[ASN][1000 genomes]
rs28848005	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2900072	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34514665	0.82[ASN][1000 genomes]
rs34864074	0.82[ASN][1000 genomes]
rs35162738	0.82[ASN][1000 genomes]
rs3763138	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763140	0.90[ASN][1000 genomes]
rs3815911	0.88[ASN][1000 genomes]
rs3842917	0.85[EUR][1000 genomes]
rs3906538	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3909887	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3936061	0.82[ASN][1000 genomes]
rs4122547	0.88[EUR][1000 genomes]
rs4132093	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4334877	0.82[ASN][1000 genomes]
rs4588592	0.90[ASN][1000 genomes]
rs4705552	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4705553	0.81[ASN][1000 genomes]
rs4705555	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4705556	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4705557	0.89[ASN][1000 genomes]
rs4705823	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4705825	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4705827	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4705828	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4705832	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4705833	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56030143	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56206672	0.89[ASN][1000 genomes]
rs57134656	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58044020	0.83[ASN][1000 genomes]
rs58391392	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60265545	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60871281	0.83[ASN][1000 genomes]
rs60914066	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6594718	0.84[EUR][1000 genomes]
rs6594719	0.85[EUR][1000 genomes]
rs6594720	0.82[EUR][1000 genomes]
rs6594721	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6594729	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6594732	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6594733	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6594734	0.83[ASN][1000 genomes]
rs6594738	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67915940	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6865809	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6867502	0.89[ASN][1000 genomes]
rs6876448	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6877432	0.83[ASN][1000 genomes]
rs6877466	0.89[ASN][1000 genomes]
rs6877834	0.89[ASN][1000 genomes]
rs6878282	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6878355	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6878900	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6880447	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6883383	0.90[ASN][1000 genomes]
rs6883557	0.90[ASN][1000 genomes]
rs6886628	0.87[ASN][1000 genomes]
rs6887816	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6889501	0.83[ASN][1000 genomes]
rs6889574	0.83[ASN][1000 genomes]
rs6889783	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6898425	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72805422	0.83[ASN][1000 genomes]
rs7349799	0.81[ASN][1000 genomes]
rs754573	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7701913	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7704170	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7706215	0.83[ASN][1000 genomes]
rs7706796	0.83[EUR][1000 genomes]
rs7706958	0.83[ASN][1000 genomes]
rs7707895	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7711078	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7711211	0.83[ASN][1000 genomes]
rs7711367	0.83[ASN][1000 genomes]
rs7713038	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7713451	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7713846	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7715601	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7717644	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7722918	0.89[ASN][1000 genomes]
rs7723108	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7729306	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7730532	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7730557	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7730949	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7732310	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7737023	0.83[ASN][1000 genomes]
rs919304	0.90[ASN][1000 genomes]
rs929774	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9326893	0.87[ASN][1000 genomes]
rs9326897	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9654519	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9885245	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17135766	YTHDC2	cis	multi-tissue	Pritchard
rs17135766	YTHDC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112904600-112934800	Weak transcription	Psoas Muscle	Psoas
2	chr5:112908800-112935200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:112910600-112935200	Weak transcription	Spleen	Spleen
4	chr5:112910600-112935400	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:112910600-112936600	Weak transcription	Colonic Mucosa	Colon
6	chr5:112910600-112942000	Weak transcription	Brain Substantia Nigra	brain
7	chr5:112910800-112934600	Weak transcription	Gastric	stomach
8	chr5:112910800-112935000	Weak transcription	Pancreas	Pancrea
9	chr5:112910800-112935200	Weak transcription	Esophagus	oesophagus
10	chr5:112910800-112937400	Weak transcription	Fetal Intestine Small	intestine
11	chr5:112910800-112938200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:112910800-112942200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:112916800-112936000	Weak transcription	Fetal Heart	heart
14	chr5:112917200-112942000	Weak transcription	K562	blood
15	chr5:112917400-112937600	Weak transcription	HSMMtube	muscle
16	chr5:112918000-112939000	Weak transcription	NHEK	skin
17	chr5:112920400-112939000	Weak transcription	HMEC	breast
18	chr5:112920600-112934600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr5:112920600-112934800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr5:112920600-112936000	Weak transcription	Brain Anterior Caudate	brain
21	chr5:112920800-112934000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:112920800-112938600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:112920800-112942000	Weak transcription	Ovary	ovary
24	chr5:112927000-112936600	Weak transcription	Fetal Muscle Leg	muscle
25	chr5:112927200-112941800	Weak transcription	HUVEC	blood vessel
26	chr5:112927800-112934800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr5:112927800-112939200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr5:112928200-112934200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr5:112928200-112936600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:112928800-112937800	Weak transcription	Osteobl	bone
31	chr5:112929000-112934400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:112929200-112935000	Weak transcription	Fetal Intestine Large	intestine
33	chr5:112929200-112935400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:112929200-112941400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr5:112929600-112934400	Weak transcription	Fetal Thymus	thymus
36	chr5:112929800-112936000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr5:112929800-112942000	Weak transcription	NH-A	brain
38	chr5:112929800-112943800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:112930000-112934000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr5:112930000-112937600	Weak transcription	Primary B cells from cord blood	blood
41	chr5:112930000-112941800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr5:112930000-112941800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:112930000-112942000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:112930000-112942200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr5:112930000-112943800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr5:112930000-112944000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:112930200-112934400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr5:112930200-112934600	Weak transcription	Adipose Nuclei	Adipose
49	chr5:112930200-112934800	Weak transcription	Primary T cells from cord blood	blood
50	chr5:112930200-112942000	Weak transcription	Left Ventricle	heart

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