Variant report

Variant	rs4651235
Chromosome Location	chr1:174915776-174915777
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 163 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:161)

rs_ID	r²[population]
rs1012182	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1034462	0.81[ASN][1000 genomes]
rs1058741	0.81[ASN][1000 genomes]
rs10798324	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10798327	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912843	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10912853	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10912854	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10912855	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10912857	0.84[EUR][1000 genomes]
rs11800350	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11806066	0.89[ASN][1000 genomes]
rs11809803	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11810508	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12063093	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12078839	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12094876	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1231826	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1231827	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1231829	0.97[ASN][1000 genomes]
rs1329281	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1613634	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1618207	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1618408	0.82[ASN][1000 genomes]
rs1622802	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs162815	0.82[ASN][1000 genomes]
rs1653630	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1653634	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16847624	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17302033	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17302367	0.81[ASN][1000 genomes]
rs1754350	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1754352	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1754353	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1754354	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1754360	0.82[ASN][1000 genomes]
rs17842156	0.81[EUR][1000 genomes]
rs17842157	0.80[EUR][1000 genomes]
rs1793292	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1793294	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1793295	0.82[EUR][1000 genomes]
rs1793298	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1793305	0.83[AMR][1000 genomes];0.89[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	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1793318	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1793320	0.87[EUR][1000 genomes]
rs1813136	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1883139	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894198	0.97[ASN][1000 genomes]
rs1894199	1.00[ASN][1000 genomes]
rs1894201	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894680	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1923818	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs193082	0.80[EUR][1000 genomes]
rs2003378	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2146564	0.81[EUR][1000 genomes]
rs2157541	0.84[EUR][1000 genomes]
rs2157567	0.81[ASN][1000 genomes]
rs2163628	0.84[EUR][1000 genomes]
rs2183202	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2568096	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2568098	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2760057	0.80[EUR][1000 genomes]
rs2860725	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2861005	0.81[EUR][1000 genomes]
rs2861006	0.81[EUR][1000 genomes]
rs2981892	0.97[ASN][1000 genomes]
rs2981893	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2981896	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2987872	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2987873	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2987875	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2987876	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2987880	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3117838	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3117843	0.80[EUR][1000 genomes]
rs3118982	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3118986	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3118987	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3118990	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs332767	0.82[EUR][1000 genomes]
rs332779	0.82[EUR][1000 genomes]
rs332781	0.82[EUR][1000 genomes]
rs332782	0.82[EUR][1000 genomes]
rs332786	0.82[EUR][1000 genomes]
rs332800	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs332801	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs333432	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs333436	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3766697	0.81[ASN][1000 genomes]
rs392307	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs398350	0.82[EUR][1000 genomes]
rs459078	0.82[ASN][1000 genomes]
rs460878	0.81[EUR][1000 genomes]
rs464635	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4651205	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4651231	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4652797	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55688014	0.81[EUR][1000 genomes]
rs55774740	0.81[ASN][1000 genomes]
rs55793234	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55844798	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57289077	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58030712	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60482554	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60811893	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6425298	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425300	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425301	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425303	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6425304	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6425306	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6670315	0.84[EUR][1000 genomes]
rs6671196	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6671272	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6671782	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6675528	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs66836419	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6684229	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6684515	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6686872	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687616	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6690754	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6693979	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696465	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6700953	0.97[ASN][1000 genomes]
rs67054007	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67133776	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67203477	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67903803	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72715281	0.80[EUR][1000 genomes]
rs72715292	0.84[ASN][1000 genomes]
rs72715294	0.84[ASN][1000 genomes]
rs72715300	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72717608	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72717616	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72717617	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72717618	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72717630	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717637	0.97[ASN][1000 genomes]
rs72717649	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72717650	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717653	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72717661	0.95[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]
rs7514183	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7516410	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7521109	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7531032	0.81[ASN][1000 genomes]
rs7543147	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7547658	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554767	0.81[ASN][1000 genomes]
rs913686	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs913687	0.82[ASN][1000 genomes]
rs913688	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9425787	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs989424	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv1794782	chr1:174900761-174925112	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4651235	MRPS14	Cis_1M	lymphoblastoid	RTeQTL
rs4651235	RABGAP1L	cis	Esophagus Muscularis	GTEx

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174874200-174938200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:174876800-174933600	Weak transcription	Aorta	Aorta
3	chr1:174901000-174922200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:174908000-174926600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:174908000-174932400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:174908200-174924200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:174908600-174927400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:174908800-174932200	Weak transcription	Primary T cells from cord blood	blood
9	chr1:174910000-174916000	Enhancers	Fetal Intestine Large	intestine
10	chr1:174910400-174922400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:174910400-174932400	Weak transcription	HSMMtube	muscle
12	chr1:174910800-174925800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:174910800-174957000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:174912200-174918400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:174912200-174925400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:174912400-174922400	Weak transcription	Right Atrium	heart
17	chr1:174912400-174922600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:174912400-174923800	Weak transcription	Gastric	stomach
19	chr1:174912600-174918600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:174912600-174921800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr1:174912600-174922600	Weak transcription	Brain Angular Gyrus	brain
22	chr1:174912600-174923800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:174912600-174934800	Weak transcription	Left Ventricle	heart
24	chr1:174913400-174915800	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:174913800-174915800	Enhancers	Fetal Intestine Small	intestine
26	chr1:174913800-174922800	Weak transcription	Pancreas	Pancrea
27	chr1:174914600-174915800	Enhancers	Stomach Mucosa	stomach
28	chr1:174914800-174932800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr1:174915000-174922400	Weak transcription	Primary B cells from cord blood	blood
30	chr1:174915200-174917000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:174915400-174921200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr1:174915400-174922400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr1:174915400-174922400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:174915600-174918800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:174915600-174921800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:174915600-174921800	Weak transcription	Small Intestine	intestine
37	chr1:174915600-174922200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr1:174915600-174922400	Weak transcription	Duodenum Mucosa	Duodenum

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