Variant report

Variant	rs17349271
Chromosome Location	chr1:169117882-169117883
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 134 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10442644	0.95[CEU][hapmap];0.86[GIH][hapmap];0.92[MEX][hapmap];0.85[MKK][hapmap];0.86[TSI][hapmap]
rs10800407	0.82[CEU][hapmap]
rs10800411	0.81[CEU][hapmap]
rs10800418	0.82[CEU][hapmap];0.82[MEX][hapmap]
rs10919075	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10919082	0.80[CEU][hapmap]
rs10919086	0.82[CEU][hapmap]
rs10919090	0.81[CEU][hapmap]
rs12067018	0.82[CEU][hapmap]
rs12067072	0.82[CEU][hapmap]
rs12072226	0.82[CEU][hapmap]
rs12072953	0.81[CEU][hapmap]
rs12075832	0.82[CEU][hapmap]
rs12076469	0.82[CEU][hapmap]
rs12080100	0.85[CEU][hapmap]
rs12081283	0.82[CEU][hapmap]
rs12082618	0.84[CEU][hapmap]
rs12083287	0.82[CEU][hapmap]
rs12084793	0.86[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12086665	0.85[TSI][hapmap]
rs12086983	0.82[CEU][hapmap]
rs12116551	1.00[CEU][hapmap];0.87[MKK][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12117362	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12117559	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12118611	0.95[CEU][hapmap];0.86[GIH][hapmap];0.93[MEX][hapmap];0.87[MKK][hapmap];0.89[TSI][hapmap]
rs12120007	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12120493	0.81[CEU][hapmap]
rs12120960	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12121994	0.90[CEU][hapmap];0.81[TSI][hapmap]
rs12122348	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12124168	0.81[CEU][hapmap]
rs12124738	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12125057	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12125501	0.94[CEU][hapmap]
rs12129979	0.94[CEU][hapmap]
rs12130858	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12137282	0.90[YRI][hapmap]
rs12138150	0.90[YRI][hapmap]
rs12143193	0.90[CEU][hapmap]
rs12143790	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12143963	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12143965	0.82[CEU][hapmap]
rs12144230	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12144832	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12145146	0.90[CEU][hapmap]
rs12145193	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12145226	0.90[CEU][hapmap]
rs12145897	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12354315	0.82[CEU][hapmap]
rs12562404	0.82[CEU][hapmap]
rs12564596	0.82[CEU][hapmap]
rs12724802	0.81[CEU][hapmap]
rs12728614	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12730917	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12730920	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12731646	1.00[ASW][hapmap];0.90[YRI][hapmap]
rs12733626	0.90[CEU][hapmap]
rs12736817	0.91[EUR][1000 genomes]
rs12740501	0.91[EUR][1000 genomes]
rs12741323	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12741540	0.82[CEU][hapmap]
rs12744184	0.82[CEU][hapmap]
rs12744341	0.82[CEU][hapmap]
rs12747242	0.82[CEU][hapmap]
rs12750161	0.91[EUR][1000 genomes]
rs12753816	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12755385	0.82[CEU][hapmap]
rs12756799	0.82[CEU][hapmap]
rs1320967	0.82[CEU][hapmap]
rs1358712	0.82[CEU][hapmap]
rs1419323	0.82[CEU][hapmap]
rs17345170	1.00[ASW][hapmap];1.00[CEU][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];0.99[EUR][1000 genomes]
rs17345184	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17349222	1.00[ASW][hapmap];0.84[LWK][hapmap];0.96[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs17349439	1.00[CEU][hapmap];0.86[GIH][hapmap];0.93[MEX][hapmap];0.87[MKK][hapmap];0.89[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17349467	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1936533	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2040446	1.00[CEU][hapmap];0.86[GIH][hapmap];0.93[MEX][hapmap];0.87[MKK][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2143287	0.82[CEU][hapmap]
rs2157597	0.95[CEU][hapmap];0.86[GIH][hapmap];0.93[MEX][hapmap];0.85[MKK][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2179491	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2420008	0.85[TSI][hapmap]
rs2420010	0.86[CEU][hapmap]
rs34829200	0.82[EUR][1000 genomes]
rs34975352	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35133990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35220898	0.95[CEU][hapmap];0.86[GIH][hapmap];0.92[MEX][hapmap];0.86[MKK][hapmap]
rs35447001	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35458577	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3737681	0.82[CEU][hapmap]
rs3753297	0.82[CEU][hapmap]
rs3753300	0.82[CEU][hapmap]
rs3766053	0.82[CEU][hapmap]
rs3766055	0.82[CEU][hapmap]
rs3766060	0.82[CEU][hapmap]
rs3766069	0.82[CEU][hapmap]
rs3766077	0.86[CEU][hapmap];0.82[MEX][hapmap]
rs3766090	0.90[CEU][hapmap]
rs3820055	0.82[CEU][hapmap]
rs3820056	0.82[CEU][hapmap]
rs4140540	0.82[CEU][hapmap]
rs4589164	0.95[CEU][hapmap];0.86[GIH][hapmap];0.93[MEX][hapmap];0.85[MKK][hapmap];0.89[TSI][hapmap]
rs4656178	0.85[AFR][1000 genomes]
rs4656180	0.95[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4656658	1.00[CEU][hapmap];0.86[GIH][hapmap];0.93[MEX][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4656659	0.82[CEU][hapmap]
rs4656660	0.82[CEU][hapmap]
rs4656664	1.00[CEU][hapmap];0.86[GIH][hapmap];0.93[MEX][hapmap];0.85[MKK][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4656669	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61806190	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61806208	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61806242	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61806244	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61808870	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6427180	0.86[CEU][hapmap]
rs6703463	0.82[CEU][hapmap]
rs745921	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7516097	0.86[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7518554	0.82[CEU][hapmap]
rs7519279	0.80[EUR][1000 genomes]
rs7541564	0.82[CEU][hapmap]
rs7541675	0.82[CEU][hapmap]
rs7541700	0.84[CEU][hapmap]
rs7552323	0.85[MKK][hapmap];0.85[TSI][hapmap]
rs909930	0.82[CEU][hapmap]
rs909931	0.82[CEU][hapmap]
rs932394	0.82[CEU][hapmap]
rs958581	0.82[CEU][hapmap]
rs9887857	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv831858	chr1:169022383-169179068	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs17349271	ALDH9A1	cis	cerebellum	SCAN
rs17349271	NME7	cis	Thyroid	GTEx
rs17349271	NME7	cis	Artery Tibial	GTEx
rs17349271	NME7	cis	cerebellum	SCAN
rs17349271	NME7	cis	multi-tissue	Pritchard
rs17349271	NME7	cis	Esophagus Muscularis	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169091200-169124600	Weak transcription	NHLF	lung
2	chr1:169091600-169120400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:169091600-169120600	Weak transcription	Lung	lung
4	chr1:169091800-169137600	Weak transcription	Esophagus	oesophagus
5	chr1:169096600-169137400	Weak transcription	Fetal Stomach	stomach
6	chr1:169097000-169130000	Weak transcription	Ovary	ovary
7	chr1:169100800-169141400	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:169101000-169137000	Weak transcription	Primary T cells from cord blood	blood
9	chr1:169102400-169120600	Weak transcription	Left Ventricle	heart
10	chr1:169103400-169130200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:169104800-169120400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:169104800-169142800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:169110400-169121800	Enhancers	Fetal Intestine Small	intestine
14	chr1:169112600-169118400	Enhancers	Stomach Mucosa	stomach
15	chr1:169112800-169120600	Weak transcription	Psoas Muscle	Psoas
16	chr1:169114800-169118200	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr1:169115000-169120600	Enhancers	HepG2	liver
18	chr1:169115000-169121200	Enhancers	Duodenum Mucosa	Duodenum
19	chr1:169115000-169121800	Enhancers	Fetal Intestine Large	intestine
20	chr1:169115200-169118000	Enhancers	Liver	Liver
21	chr1:169115400-169118000	Weak transcription	Small Intestine	intestine
22	chr1:169115800-169130400	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:169116200-169118000	Enhancers	Pancreas	Pancrea
24	chr1:169116200-169130200	Weak transcription	Brain Anterior Caudate	brain
25	chr1:169116400-169126600	Weak transcription	Right Atrium	heart
26	chr1:169116400-169139400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:169117400-169118000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:169117400-169118000	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr1:169117400-169118000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr1:169117400-169118200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr1:169117400-169118200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr1:169117400-169118400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr1:169117400-169118400	Flanking Active TSS	A549	lung
34	chr1:169117600-169118200	Enhancers	Hela-S3	cervix
35	chr1:169117600-169120400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:169117800-169118000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:169117800-169118000	Enhancers	HUVEC	blood vessel
38	chr1:169117800-169118200	Enhancers	Fetal Kidney	kidney
39	chr1:169117800-169118200	Enhancers	K562	blood

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