Variant report

Variant	rs72717608
Chromosome Location	chr1:174757454-174757455
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	chr1:174756924..174758922-chr1:174761115..174763759,2	K562	blood:
2	chr1:174755205..174759799-chr1:174964409..174969303,4	K562	blood:

Variant related genes	Relation type
ENSG00000252552	Chromatin interaction
ENSG00000116161	Chromatin interaction

Extended variants
information (count: 225 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:221)

rs_ID	r²[population]
rs1012182	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1034462	0.81[ASN][1000 genomes]
rs10494492	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1058741	0.81[ASN][1000 genomes]
rs10798324	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798327	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10912817	0.84[EUR][1000 genomes]
rs10912821	0.83[EUR][1000 genomes]
rs10912822	0.84[EUR][1000 genomes]
rs10912828	0.86[EUR][1000 genomes]
rs10912829	0.86[EUR][1000 genomes]
rs10912843	0.85[EUR][1000 genomes]
rs10912853	0.82[EUR][1000 genomes]
rs10912855	0.83[EUR][1000 genomes]
rs11800350	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11802092	0.83[EUR][1000 genomes]
rs11805578	0.80[EUR][1000 genomes]
rs11806996	0.89[EUR][1000 genomes]
rs11809803	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11810508	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12062016	0.84[EUR][1000 genomes]
rs12063093	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12065825	0.86[EUR][1000 genomes]
rs12078839	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12082012	0.81[EUR][1000 genomes]
rs12085652	0.81[EUR][1000 genomes]
rs12094876	0.83[EUR][1000 genomes]
rs1231826	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1231827	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1231829	0.82[ASN][1000 genomes]
rs1329281	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149099	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1540207	0.82[EUR][1000 genomes]
rs1613634	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1618207	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1618408	0.97[ASN][1000 genomes]
rs1622802	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162815	0.97[ASN][1000 genomes]
rs1653630	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1653634	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1653636	0.90[ASN][1000 genomes]
rs16847335	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16847337	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16847624	0.85[ASN][1000 genomes]
rs17302033	0.85[EUR][1000 genomes]
rs17302367	0.81[ASN][1000 genomes]
rs1754352	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1754353	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1754354	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1754360	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17842156	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17842157	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1793292	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1793294	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1793295	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1793298	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1793305	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1793307	0.97[ASN][1000 genomes]
rs1793310	0.97[ASN][1000 genomes]
rs1793313	0.85[ASN][1000 genomes]
rs1793316	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1793318	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1793320	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1813136	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1883139	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1894198	0.82[ASN][1000 genomes]
rs1894199	0.84[ASN][1000 genomes]
rs1894201	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1894680	0.89[ASN][1000 genomes]
rs1923818	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193082	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2003378	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2060158	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2146564	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2157567	0.81[ASN][1000 genomes]
rs2163628	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2183202	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2568096	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2568098	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2760057	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2760058	0.86[EUR][1000 genomes]
rs2771401	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2860725	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2861005	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2861006	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2981892	0.82[ASN][1000 genomes]
rs2981893	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2981896	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2987872	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2987873	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2987875	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2987876	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2987880	0.85[EUR][1000 genomes]
rs3117838	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3117843	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3118982	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3118986	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3118987	0.85[EUR][1000 genomes]
rs3118990	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs332763	0.82[ASN][1000 genomes]
rs332764	0.82[ASN][1000 genomes]
rs332767	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs332768	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs332772	0.82[ASN][1000 genomes]
rs332776	0.80[EUR][1000 genomes]
rs332779	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs332781	0.92[EUR][1000 genomes]
rs332782	0.92[EUR][1000 genomes]
rs332786	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs332787	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs332793	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs332797	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs332798	0.92[ASN][1000 genomes]
rs332800	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs332801	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs332802	0.85[EUR][1000 genomes]
rs332804	0.80[EUR][1000 genomes]
rs332806	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs333422	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs333423	0.82[ASN][1000 genomes]
rs333432	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333436	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333437	0.82[ASN][1000 genomes]
rs333438	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs333452	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs333454	0.87[EUR][1000 genomes]
rs333471	0.82[ASN][1000 genomes]
rs34409674	0.80[EUR][1000 genomes]
rs36127331	0.89[EUR][1000 genomes]
rs3766697	0.81[ASN][1000 genomes]
rs3862941	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs392307	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs395109	0.86[EUR][1000 genomes]
rs398350	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs399530	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs411665	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4451598	0.84[EUR][1000 genomes]
rs4480415	0.84[EUR][1000 genomes]
rs4562683	0.85[EUR][1000 genomes]
rs458242	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs459078	0.97[ASN][1000 genomes]
rs460878	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4615901	0.85[EUR][1000 genomes]
rs464540	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs464635	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4651103	0.83[EUR][1000 genomes]
rs4651114	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4651205	0.82[ASN][1000 genomes]
rs4651231	0.80[EUR][1000 genomes]
rs4651235	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4652652	0.83[EUR][1000 genomes]
rs4652669	0.84[EUR][1000 genomes]
rs4652797	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs467437	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55643907	0.84[EUR][1000 genomes]
rs55667039	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55688014	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55774740	0.81[ASN][1000 genomes]
rs55793234	0.83[EUR][1000 genomes]
rs55844798	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55945681	0.84[EUR][1000 genomes]
rs56260545	0.84[EUR][1000 genomes]
rs57289077	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60811893	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425298	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6425300	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6425301	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6425306	0.81[EUR][1000 genomes]
rs6667107	0.86[EUR][1000 genomes]
rs6671196	0.84[EUR][1000 genomes]
rs6671272	0.81[EUR][1000 genomes]
rs6671782	0.83[EUR][1000 genomes]
rs66836419	0.85[EUR][1000 genomes]
rs6684229	0.83[EUR][1000 genomes]
rs6684515	0.83[EUR][1000 genomes]
rs6686872	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6687616	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6689153	0.86[EUR][1000 genomes]
rs6690754	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6693979	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6696465	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6700953	0.82[ASN][1000 genomes]
rs67054007	0.85[ASN][1000 genomes]
rs67133776	0.81[EUR][1000 genomes]
rs67203477	0.85[EUR][1000 genomes]
rs67903803	0.85[EUR][1000 genomes]
rs72715240	0.80[EUR][1000 genomes]
rs72715245	0.80[EUR][1000 genomes]
rs72715253	0.84[EUR][1000 genomes]
rs72715255	0.85[EUR][1000 genomes]
rs72715259	0.84[EUR][1000 genomes]
rs72715260	0.85[EUR][1000 genomes]
rs72715262	0.85[EUR][1000 genomes]
rs72715273	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72715281	0.93[EUR][1000 genomes]
rs72715292	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715294	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715300	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717616	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717617	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72717618	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72717630	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72717637	0.82[ASN][1000 genomes]
rs72717649	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72717650	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72717653	0.85[EUR][1000 genomes]
rs72717661	0.84[EUR][1000 genomes]
rs72717670	0.85[ASN][1000 genomes]
rs74128535	0.81[ASN][1000 genomes]
rs7516353	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7516410	0.85[EUR][1000 genomes]
rs7521109	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531032	0.81[ASN][1000 genomes]
rs7543147	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7547658	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7554767	0.81[ASN][1000 genomes]
rs913686	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs913687	0.97[ASN][1000 genomes]
rs913688	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9425787	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs989424	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv548198	chr1:174731596-174800872	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs72717608	RP11-160H22.5	cis	Thyroid	GTEx
rs72717608	RABGAP1L	cis	Esophagus Muscularis	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174747000-174768400	Weak transcription	Primary B cells from cord blood	blood
2	chr1:174752000-174757800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:174752400-174760800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:174752400-174764000	Weak transcription	Fetal Intestine Small	intestine
5	chr1:174752400-174764200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:174753600-174758400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:174755000-174757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:174755000-174757800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:174755200-174757600	Enhancers	GM12878-XiMat	blood
10	chr1:174756600-174757800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:174756600-174757800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:174756800-174759000	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:174756800-174759600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:174756800-174760000	Enhancers	HSMMtube	muscle
15	chr1:174757000-174758000	Enhancers	Osteobl	bone
16	chr1:174757000-174758200	Enhancers	K562	blood
17	chr1:174757000-174758800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr1:174757000-174759400	Enhancers	NHEK	skin
19	chr1:174757200-174758200	Enhancers	Liver	Liver
20	chr1:174757200-174758800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:174757200-174759200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr1:174757200-174759200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:174757200-174759200	Enhancers	HSMM	muscle
24	chr1:174757400-174757800	Bivalent Enhancer	NH-A	brain
25	chr1:174757400-174758800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:174757400-174759200	Enhancers	HMEC	breast

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