Variant report

Variant	rs11810508
Chromosome Location	chr1:174821814-174821815
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	chr1:174820553..174823525-chr1:174967964..174970239,2	MCF-7	breast:
2	chr1:174820624..174823043-chr1:174965397..174968312,2	K562	blood:

Variant related genes	Relation type
ENSG00000252552	Chromatin interaction
ENSG00000116161	Chromatin interaction

Extended variants
information (count: 192 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:189)

rs_ID	r²[population]
rs1012182	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1034462	0.81[ASN][1000 genomes]
rs10494492	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1058741	0.81[ASN][1000 genomes]
rs10798324	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10798327	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912828	0.80[EUR][1000 genomes]
rs10912829	0.80[EUR][1000 genomes]
rs10912843	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10912853	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10912855	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11800350	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11806066	0.89[ASN][1000 genomes]
rs11806996	0.83[EUR][1000 genomes]
rs11809803	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12063093	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12065825	0.80[EUR][1000 genomes]
rs12078839	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12094876	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1231826	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1231827	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1231829	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1329281	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs149099	0.80[EUR][1000 genomes]
rs1540207	0.81[EUR][1000 genomes]
rs1613634	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1618207	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1618408	0.82[ASN][1000 genomes]
rs1622802	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs162815	0.82[ASN][1000 genomes]
rs1653630	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1653634	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16847335	0.85[EUR][1000 genomes]
rs16847337	0.85[EUR][1000 genomes]
rs16847624	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17302033	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17302367	0.81[ASN][1000 genomes]
rs1754350	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1754352	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1754353	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1754354	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1754360	0.82[ASN][1000 genomes]
rs17842156	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17842157	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1793292	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1793294	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1793295	0.84[EUR][1000 genomes]
rs1793298	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1793305	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1793307	0.82[ASN][1000 genomes]
rs1793310	0.82[ASN][1000 genomes]
rs1793313	0.90[ASN][1000 genomes]
rs1793316	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1793318	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1793320	0.88[EUR][1000 genomes]
rs1813136	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1883139	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894198	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1894199	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894201	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894680	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1923818	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs193082	0.82[EUR][1000 genomes]
rs2003378	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2060158	0.83[EUR][1000 genomes]
rs2146564	0.85[EUR][1000 genomes]
rs2157567	0.81[ASN][1000 genomes]
rs2163628	0.86[EUR][1000 genomes]
rs2183202	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2568096	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2568098	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2760057	0.82[EUR][1000 genomes]
rs2760058	0.80[EUR][1000 genomes]
rs2771401	0.81[EUR][1000 genomes]
rs2860725	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2861005	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2861006	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2981892	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2981893	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2981896	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2987872	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2987873	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2987875	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2987876	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2987880	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3117838	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3117843	0.82[EUR][1000 genomes]
rs3118982	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3118986	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3118987	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3118990	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs332767	0.85[EUR][1000 genomes]
rs332768	0.83[EUR][1000 genomes]
rs332779	0.84[EUR][1000 genomes]
rs332781	0.83[EUR][1000 genomes]
rs332782	0.83[EUR][1000 genomes]
rs332786	0.84[EUR][1000 genomes]
rs332793	0.81[EUR][1000 genomes]
rs332797	0.81[EUR][1000 genomes]
rs332800	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs332801	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs332806	0.80[EUR][1000 genomes]
rs333422	0.83[EUR][1000 genomes]
rs333432	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs333436	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs333438	0.83[EUR][1000 genomes]
rs333452	0.81[EUR][1000 genomes]
rs333454	0.81[EUR][1000 genomes]
rs36127331	0.81[EUR][1000 genomes]
rs3766697	0.81[ASN][1000 genomes]
rs3862941	0.84[EUR][1000 genomes]
rs392307	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs395109	0.80[EUR][1000 genomes]
rs398350	0.84[EUR][1000 genomes]
rs399530	0.83[EUR][1000 genomes]
rs411665	0.80[EUR][1000 genomes]
rs4480415	0.82[EUR][1000 genomes]
rs458242	0.84[EUR][1000 genomes]
rs459078	0.82[ASN][1000 genomes]
rs460878	0.83[EUR][1000 genomes]
rs464540	0.83[EUR][1000 genomes]
rs464635	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4651114	0.82[EUR][1000 genomes]
rs4651205	0.97[ASN][1000 genomes]
rs4651231	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4651235	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652797	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs467437	0.84[EUR][1000 genomes]
rs55667039	0.84[EUR][1000 genomes]
rs55688014	0.85[EUR][1000 genomes]
rs55774740	0.81[ASN][1000 genomes]
rs55793234	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55844798	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57289077	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58030712	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60482554	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60811893	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6425298	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425300	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425301	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425304	0.81[EUR][1000 genomes]
rs6425306	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6667107	0.80[EUR][1000 genomes]
rs6671196	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6671272	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6671782	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66836419	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6684229	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6684515	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6686872	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689153	0.80[EUR][1000 genomes]
rs6690754	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6693979	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696465	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6700953	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67054007	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67133776	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67203477	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67903803	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72715273	0.83[EUR][1000 genomes]
rs72715281	0.85[EUR][1000 genomes]
rs72715292	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72715294	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72715300	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72717608	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72717616	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72717617	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72717618	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72717630	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717637	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72717649	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72717650	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717653	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72717661	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72717670	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74128535	0.81[ASN][1000 genomes]
rs7516353	0.80[EUR][1000 genomes]
rs7516410	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7521109	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7531032	0.81[ASN][1000 genomes]
rs7543147	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7547658	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554767	0.81[ASN][1000 genomes]
rs913686	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs913687	0.82[ASN][1000 genomes]
rs913688	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9425787	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs989424	0.90[EUR][1000 genomes];0.89[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	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11810508	MRPS14	Cis_1M	lymphoblastoid	RTeQTL
rs11810508	RP11-160H22.5	cis	Thyroid	GTEx
rs11810508	RABGAP1L	cis	Esophagus Muscularis	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174796600-174833400	Weak transcription	Primary B cells from cord blood	blood
2	chr1:174818200-174828000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:174819200-174824400	Weak transcription	Aorta	Aorta
4	chr1:174819200-174843600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:174820200-174827600	Weak transcription	Left Ventricle	heart

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