Variant report

Variant	rs1487539
Chromosome Location	chr1:92739699-92739700
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10747411	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10782838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875348	1.00[YRI][hapmap]
rs11166568	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11166575	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1226177	1.00[ASN][1000 genomes]
rs1226188	1.00[ASN][1000 genomes]
rs1234874	1.00[ASN][1000 genomes]
rs1386585	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1487537	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131767	1.00[ASN][1000 genomes]
rs1748178	1.00[ASN][1000 genomes]
rs17519833	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17579779	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1825813	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1906279	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2025607	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2046621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391140	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2763040	1.00[ASN][1000 genomes]
rs3103177	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3103180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3122320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3131815	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3131816	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3131824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3131831	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4247165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs475034	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs476490	1.00[ASN][1000 genomes]
rs481384	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs481677	1.00[ASN][1000 genomes]
rs487443	1.00[ASN][1000 genomes]
rs495446	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs501872	1.00[ASN][1000 genomes]
rs510857	1.00[ASN][1000 genomes]
rs517404	1.00[ASN][1000 genomes]
rs523692	1.00[ASN][1000 genomes]
rs524989	1.00[ASN][1000 genomes]
rs525834	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs530815	1.00[ASN][1000 genomes]
rs532031	1.00[ASN][1000 genomes]
rs533124	1.00[ASN][1000 genomes]
rs533418	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs537754	1.00[ASN][1000 genomes]
rs538054	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs541168	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs544556	1.00[ASN][1000 genomes]
rs548100	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs548141	1.00[ASN][1000 genomes]
rs552468	1.00[ASN][1000 genomes]
rs553173	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs562119	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs564077	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs566576	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs579668	1.00[ASN][1000 genomes]
rs59679370	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6603963	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6603967	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604089	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668685	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692060	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7512301	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7518357	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7520275	1.00[CHB][hapmap]
rs7542747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7545445	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7547429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][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	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv830592	chr1:92669282-92805629	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv870667	chr1:92697188-92813741	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1487539	RPL5	cis	parietal	SCAN
rs1487539	RPL10A	trans	cerebellum	SCAN
rs1487539	FAM69A	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92707200-92764000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:92708200-92741200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:92709000-92762800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:92710000-92745200	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:92710600-92753200	Weak transcription	Small Intestine	intestine
6	chr1:92710600-92762000	Weak transcription	Fetal Brain Male	brain
7	chr1:92710600-92763400	Weak transcription	Brain Angular Gyrus	brain
8	chr1:92710600-92764000	Weak transcription	Gastric	stomach
9	chr1:92711000-92763600	Weak transcription	HSMMtube	muscle
10	chr1:92711200-92742800	Weak transcription	NHLF	lung
11	chr1:92711200-92761600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:92711200-92764000	Weak transcription	Spleen	Spleen
13	chr1:92719400-92745000	Weak transcription	Esophagus	oesophagus
14	chr1:92719400-92764000	Weak transcription	Pancreas	Pancrea
15	chr1:92719600-92760800	Weak transcription	Fetal Heart	heart
16	chr1:92720000-92763800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:92720400-92748400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr1:92721600-92742400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:92722400-92763400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:92723000-92763800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:92724000-92760600	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:92724200-92740800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:92724200-92745000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:92724200-92746200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr1:92724200-92746400	Strong transcription	Dnd41	blood
26	chr1:92724400-92740000	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:92724400-92746400	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:92724400-92746600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:92724600-92763800	Weak transcription	Brain Substantia Nigra	brain
30	chr1:92724800-92747400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:92725800-92764000	Weak transcription	Colonic Mucosa	Colon
32	chr1:92726400-92742400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:92726800-92746400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:92727000-92763800	Weak transcription	Right Ventricle	heart
35	chr1:92727200-92740400	Weak transcription	Osteobl	bone
36	chr1:92727200-92742000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:92727200-92745200	Weak transcription	Lung	lung
38	chr1:92727200-92759200	Weak transcription	A549	lung
39	chr1:92727200-92763800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:92729800-92763800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:92730800-92739800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:92731400-92742000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:92731400-92745000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:92731400-92751200	Weak transcription	GM12878-XiMat	blood
45	chr1:92732000-92740400	Weak transcription	NH-A	brain
46	chr1:92732000-92750800	Weak transcription	Fetal Kidney	kidney
47	chr1:92732000-92763600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr1:92732400-92740400	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr1:92732600-92745000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:92732800-92740400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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