Variant report

Variant	rs257498
Chromosome Location	chr16:64995150-64995151
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 154 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs1025311	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1040270	0.87[JPT][hapmap]
rs10500508	1.00[YRI][hapmap]
rs1079008	1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs12445593	0.89[ASN][1000 genomes]
rs12447201	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12597529	0.96[ASN][1000 genomes]
rs12925954	0.92[ASN][1000 genomes]
rs12926007	0.92[ASN][1000 genomes]
rs12935145	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1356823	0.88[EUR][1000 genomes]
rs1520229	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1520230	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1520231	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs1520232	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs1520234	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1520236	0.87[JPT][hapmap];1.00[YRI][hapmap]
rs1520241	0.96[ASN][1000 genomes]
rs1520243	1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs1532418	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs16942779	0.91[ASN][1000 genomes]
rs16968098	0.91[ASN][1000 genomes]
rs16968101	0.91[ASN][1000 genomes]
rs16968102	0.91[ASN][1000 genomes]
rs16968461	0.83[CEU][hapmap]
rs16968480	0.81[JPT][hapmap];1.00[YRI][hapmap]
rs1850966	0.91[ASN][1000 genomes]
rs185394	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1874457	0.89[ASN][1000 genomes]
rs1874458	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1874459	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1879260	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1896755	0.91[ASN][1000 genomes]
rs1896756	0.91[ASN][1000 genomes]
rs1908723	0.89[ASN][1000 genomes]
rs1915117	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs2088285	0.80[JPT][hapmap];1.00[YRI][hapmap]
rs2115393	0.88[ASN][1000 genomes]
rs2280396	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs257335	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs257336	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs257337	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs257341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs257487	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs257490	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs257497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257499	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs28216	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs34699531	0.91[ASN][1000 genomes]
rs34893901	0.90[ASN][1000 genomes]
rs35139	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35142	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35145	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35146	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35148	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs35149	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs35150	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs35152	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs35154	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs35155	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs35156	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs35157	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs35158	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs35159	0.95[ASN][1000 genomes]
rs35160	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs35161	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs35162	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs35163	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs35164	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs35165	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs35166	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs35167	0.96[ASN][1000 genomes]
rs35169	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs35170	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs35171	0.96[ASN][1000 genomes]
rs35176	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs35177	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35178	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35179	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35180	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35192	0.90[CEU][hapmap];0.94[CHB][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35193	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35203	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35204	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35205	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35206	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35215	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35216	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35218	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35224	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35226	0.95[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35263777	0.90[ASN][1000 genomes]
rs35557609	0.91[ASN][1000 genomes]
rs35891857	0.91[ASN][1000 genomes]
rs369499	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs382418	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs385317	0.91[ASN][1000 genomes]
rs388039	0.96[ASN][1000 genomes]
rs396950	0.96[ASN][1000 genomes]
rs400182	0.96[ASN][1000 genomes]
rs40113	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs40115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs40116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs40510	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs406925	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs408330	0.91[ASN][1000 genomes]
rs422274	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs42863	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs436962	0.92[ASN][1000 genomes]
rs437402	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs437408	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs447096	0.96[ASN][1000 genomes]
rs453866	0.90[ASN][1000 genomes]
rs462735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4967858	0.91[ASN][1000 genomes]
rs4967859	0.91[ASN][1000 genomes]
rs4967860	0.91[ASN][1000 genomes]
rs4967861	0.91[ASN][1000 genomes]
rs4967862	0.91[ASN][1000 genomes]
rs4967866	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4967868	1.00[YRI][hapmap]
rs4967875	0.91[ASN][1000 genomes]
rs4967876	0.91[ASN][1000 genomes]
rs4967882	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4967886	0.80[JPT][hapmap]
rs59954387	0.88[ASN][1000 genomes]
rs610896	0.91[ASN][1000 genomes]
rs611241	0.91[ASN][1000 genomes]
rs611322	0.91[ASN][1000 genomes]
rs62042237	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7188339	0.90[ASN][1000 genomes]
rs7189660	0.90[ASN][1000 genomes]
rs7498801	0.80[JPT][hapmap]
rs8048383	0.90[ASN][1000 genomes]
rs878359	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs909003	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs973200	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs974782	0.89[CHB][hapmap];0.87[JPT][hapmap]
rs990639	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9935608	0.93[JPT][hapmap];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948640	chr16:64859061-65112790	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:64979000-64998000	Weak transcription	HMEC	breast
2	chr16:64980000-65005200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr16:64983000-65003200	Weak transcription	Brain Substantia Nigra	brain
4	chr16:64983200-65004400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:64984400-65002400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr16:64984600-65002200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr16:64984800-65004600	Weak transcription	Fetal Brain Female	brain
8	chr16:64984800-65005400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr16:64985000-65002200	Weak transcription	Brain Anterior Caudate	brain
10	chr16:64985000-65002400	Weak transcription	Brain Angular Gyrus	brain
11	chr16:64985000-65004400	Weak transcription	Fetal Intestine Large	intestine
12	chr16:64985000-65005200	Weak transcription	Brain Germinal Matrix	brain
13	chr16:64985000-65005800	Weak transcription	Aorta	Aorta
14	chr16:64985000-65011000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr16:64985200-65004400	Weak transcription	Fetal Brain Male	brain
16	chr16:64985400-65004200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:64985400-65004400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr16:64985400-65005800	Weak transcription	Spleen	Spleen
19	chr16:64985400-65015200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr16:64986200-65003000	Weak transcription	Brain Hippocampus Middle	brain
21	chr16:64986200-65004200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr16:64986400-65004000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr16:64986400-65004200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr16:64987000-65002600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:64987000-65003200	Weak transcription	NHLF	lung
26	chr16:64987400-64997400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr16:64988600-64996800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:64988600-64999400	Weak transcription	Fetal Kidney	kidney
29	chr16:64988800-64996600	Strong transcription	Osteobl	bone
30	chr16:64989600-65001000	Weak transcription	Fetal Stomach	stomach
31	chr16:64990200-64995200	Strong transcription	HSMM	muscle
32	chr16:64991200-64996000	Weak transcription	Colon Smooth Muscle	Colon
33	chr16:64991200-65004200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr16:64991400-64999200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr16:64991400-65032600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr16:64992800-64998200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr16:64993200-64998000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr16:64993600-64999000	Weak transcription	Ovary	ovary
39	chr16:64994400-64995200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr16:64994400-64995400	Strong transcription	HSMMtube	muscle
41	chr16:64994400-64999200	Weak transcription	NH-A	brain
42	chr16:64994600-64995400	Strong transcription	NHDF-Ad	bronchial
43	chr16:64994600-64998000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr16:64994800-64999200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr16:64995000-64995200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr16:64995000-64996400	Weak transcription	Fetal Lung	lung
47	chr16:64995000-65004400	Weak transcription	Fetal Muscle Leg	muscle

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