Variant report

Variant	rs12144832
Chromosome Location	chr1:169130625-169130626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10442644	0.95[CEU][hapmap];1.00[YRI][hapmap]
rs10800407	0.83[CEU][hapmap]
rs10800411	0.83[CEU][hapmap]
rs10800418	0.82[CEU][hapmap]
rs10919075	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10919082	0.82[CEU][hapmap]
rs10919086	0.82[CEU][hapmap]
rs10919090	0.81[CEU][hapmap]
rs12067018	0.82[CEU][hapmap]
rs12067072	0.83[CEU][hapmap]
rs12072226	0.82[CEU][hapmap]
rs12072953	0.82[CEU][hapmap]
rs12075832	0.83[CEU][hapmap]
rs12076469	0.83[CEU][hapmap]
rs12080100	0.87[CEU][hapmap]
rs12081283	0.83[CEU][hapmap]
rs12082618	0.85[CEU][hapmap]
rs12083287	0.83[CEU][hapmap]
rs12084793	0.87[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12086983	0.83[CEU][hapmap]
rs12116551	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12117362	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12117559	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12118611	0.95[CEU][hapmap];1.00[YRI][hapmap]
rs12120007	1.00[CEU][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12120493	0.83[CEU][hapmap]
rs12120960	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12121994	0.90[CEU][hapmap]
rs12122348	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12124168	0.81[CEU][hapmap]
rs12124738	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12125057	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12125501	0.95[CEU][hapmap]
rs12129979	0.94[CEU][hapmap]
rs12130858	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12140572	0.86[CEU][hapmap];0.85[YRI][hapmap]
rs12143193	0.91[CEU][hapmap]
rs12143790	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12143963	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12143965	0.83[CEU][hapmap]
rs12144230	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12145146	0.91[CEU][hapmap]
rs12145193	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12145226	0.91[CEU][hapmap]
rs12145897	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12354315	0.82[CEU][hapmap]
rs12562404	0.82[CEU][hapmap]
rs12564596	0.83[CEU][hapmap]
rs12724802	0.83[CEU][hapmap]
rs12728614	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12730917	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12730920	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12733626	0.91[CEU][hapmap]
rs12736817	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12740501	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12741323	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12741540	0.82[CEU][hapmap]
rs12744184	0.82[CEU][hapmap]
rs12744341	0.82[CEU][hapmap]
rs12747242	0.83[CEU][hapmap]
rs12750161	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12753816	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12755385	0.82[CEU][hapmap]
rs12756799	0.83[CEU][hapmap]
rs1320967	0.83[CEU][hapmap]
rs1358712	0.83[CEU][hapmap]
rs1419323	0.82[CEU][hapmap]
rs17345170	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17345184	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17349271	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17349439	1.00[CEU][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17349467	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1936533	1.00[CEU][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2040446	1.00[CEU][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2143287	0.83[CEU][hapmap]
rs2157597	0.95[CEU][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2179491	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2420010	0.87[CEU][hapmap]
rs34829200	0.84[EUR][1000 genomes]
rs34975352	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35133990	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35220898	0.95[CEU][hapmap];1.00[YRI][hapmap]
rs35447001	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35458577	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3737681	0.82[CEU][hapmap]
rs3753297	0.82[CEU][hapmap]
rs3753300	0.83[CEU][hapmap]
rs3766053	0.82[CEU][hapmap]
rs3766055	0.82[CEU][hapmap]
rs3766060	0.82[CEU][hapmap]
rs3766069	0.83[CEU][hapmap]
rs3766070	0.81[CEU][hapmap]
rs3766077	0.86[CEU][hapmap]
rs3766090	0.90[CEU][hapmap]
rs3820055	0.82[CEU][hapmap]
rs3820056	0.82[CEU][hapmap]
rs4140540	0.83[CEU][hapmap]
rs4589164	0.95[CEU][hapmap];1.00[YRI][hapmap]
rs4656180	0.95[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4656658	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4656659	0.83[CEU][hapmap]
rs4656660	0.83[CEU][hapmap]
rs4656664	1.00[CEU][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4656669	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61806190	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61806208	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61806242	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61806244	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61808870	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61808874	0.81[EUR][1000 genomes]
rs6427180	0.87[CEU][hapmap]
rs6703463	0.82[CEU][hapmap]
rs745921	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7516097	0.87[CEU][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7518554	0.83[CEU][hapmap]
rs7519279	0.82[EUR][1000 genomes]
rs7541564	0.82[CEU][hapmap]
rs7541675	0.82[CEU][hapmap]
rs7541700	0.86[CEU][hapmap]
rs909930	0.82[CEU][hapmap]
rs909931	0.82[CEU][hapmap]
rs932394	0.83[CEU][hapmap]
rs958581	0.83[CEU][hapmap]
rs9887857	0.83[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12144832	NME7	Cis_1M	lymphoblastoid	RTeQTL
rs12144832	NME7	cis	Artery Tibial	GTEx
rs12144832	NME7	cis	Thyroid	GTEx
rs12144832	NME7	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169091800-169137600	Weak transcription	Esophagus	oesophagus
2	chr1:169096600-169137400	Weak transcription	Fetal Stomach	stomach
3	chr1:169100800-169141400	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:169101000-169137000	Weak transcription	Primary T cells from cord blood	blood
5	chr1:169104800-169142800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:169116400-169139400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:169118000-169137000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:169121000-169137000	Weak transcription	Psoas Muscle	Psoas
9	chr1:169121000-169140800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:169121200-169141200	Weak transcription	Left Ventricle	heart
11	chr1:169121800-169143000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:169122800-169136400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:169124800-169130800	Weak transcription	Gastric	stomach
14	chr1:169124800-169138800	Weak transcription	Primary B cells from cord blood	blood
15	chr1:169125400-169131200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:169127200-169137200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:169128200-169137000	Weak transcription	Aorta	Aorta
18	chr1:169129000-169131000	Enhancers	Fetal Intestine Small	intestine
19	chr1:169129200-169131200	Enhancers	Rectal Smooth Muscle	rectum
20	chr1:169129800-169131600	Enhancers	HepG2	liver
21	chr1:169130000-169131000	Enhancers	Fetal Heart	heart
22	chr1:169130000-169131000	Enhancers	Stomach Mucosa	stomach
23	chr1:169130000-169131200	Enhancers	Liver	Liver
24	chr1:169130000-169131200	Enhancers	Colon Smooth Muscle	Colon
25	chr1:169130000-169131200	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr1:169130000-169131400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:169130000-169131400	Enhancers	Ovary	ovary
28	chr1:169130000-169132800	Enhancers	HMEC	breast
29	chr1:169130200-169130800	Enhancers	Brain Substantia Nigra	brain
30	chr1:169130200-169130800	Enhancers	Stomach Smooth Muscle	stomach
31	chr1:169130200-169131000	Enhancers	Brain Cingulate Gyrus	brain
32	chr1:169130200-169131200	Enhancers	Brain Anterior Caudate	brain
33	chr1:169130200-169131400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:169130200-169131400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr1:169130200-169131400	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr1:169130200-169131400	Enhancers	Fetal Intestine Large	intestine
37	chr1:169130200-169131400	Enhancers	NH-A	brain
38	chr1:169130200-169131600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:169130200-169131600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr1:169130200-169132200	Enhancers	A549	lung
41	chr1:169130200-169132600	Enhancers	GM12878-XiMat	blood
42	chr1:169130200-169133000	Enhancers	NHEK	skin
43	chr1:169130400-169130800	Enhancers	Brain Hippocampus Middle	brain
44	chr1:169130400-169131000	Weak transcription	Right Ventricle	heart
45	chr1:169130400-169131200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr1:169130400-169131400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr1:169130400-169131400	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr1:169130400-169195200	Weak transcription	Pancreas	Pancrea
49	chr1:169130600-169130800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:169130600-169131000	Enhancers	Rectal Mucosa Donor 29	rectum

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