Variant report

Variant	rs448445
Chromosome Location	chr14:68581480-68581481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs10139236	0.81[CEU][hapmap]
rs10139386	0.81[CEU][hapmap]
rs1022978	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1028842	0.86[ASN][1000 genomes]
rs1080957	0.80[CEU][hapmap]
rs1080958	0.85[CEU][hapmap]
rs11158718	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs11624484	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11629073	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12436203	0.85[EUR][1000 genomes]
rs12437043	0.90[EUR][1000 genomes]
rs1274637	0.86[ASN][1000 genomes]
rs1274638	0.86[ASN][1000 genomes]
rs1274639	0.86[ASN][1000 genomes]
rs1274640	0.86[ASN][1000 genomes]
rs1274641	0.86[ASN][1000 genomes]
rs1274642	0.86[ASN][1000 genomes]
rs1274643	0.86[ASN][1000 genomes]
rs1274644	0.86[ASN][1000 genomes]
rs1274645	0.86[ASN][1000 genomes]
rs1274646	0.86[ASN][1000 genomes]
rs1274647	0.86[ASN][1000 genomes]
rs1274648	0.86[ASN][1000 genomes]
rs1274649	0.86[ASN][1000 genomes]
rs1274650	0.86[ASN][1000 genomes]
rs1274651	0.86[ASN][1000 genomes]
rs1274652	0.86[ASN][1000 genomes]
rs1274653	0.86[ASN][1000 genomes]
rs1274654	0.86[ASN][1000 genomes]
rs1274655	0.86[ASN][1000 genomes]
rs1274656	0.86[ASN][1000 genomes]
rs1274657	0.86[ASN][1000 genomes]
rs1274658	0.86[ASN][1000 genomes]
rs1274659	0.86[ASN][1000 genomes]
rs1274661	0.86[ASN][1000 genomes]
rs12894297	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1295780	0.86[ASN][1000 genomes]
rs1295781	0.86[ASN][1000 genomes]
rs1295782	0.86[ASN][1000 genomes]
rs1296527	0.86[ASN][1000 genomes]
rs1298340	0.86[ASN][1000 genomes]
rs1299581	0.86[ASN][1000 genomes]
rs1467673	0.84[CEU][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1536455	0.86[ASN][1000 genomes]
rs1548264	0.81[CEU][hapmap]
rs1548265	0.80[CEU][hapmap]
rs1555944	0.84[CEU][hapmap]
rs1555945	0.84[CEU][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17104908	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1744947	0.86[ASN][1000 genomes]
rs1744949	0.86[ASN][1000 genomes]
rs1751381	0.86[ASN][1000 genomes]
rs1751382	0.86[ASN][1000 genomes]
rs1951410	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1952245	0.84[CEU][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1952246	0.83[EUR][1000 genomes]
rs1958111	0.84[CEU][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1958112	0.84[CEU][hapmap]
rs1958113	0.84[CEU][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1958115	0.83[EUR][1000 genomes]
rs1958116	0.84[CEU][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1980850	0.84[CEU][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2038979	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2243905	0.84[CEU][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2254173	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2255767	0.86[ASN][1000 genomes]
rs2478777	0.80[ASN][1000 genomes]
rs2588806	0.84[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2588807	0.83[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2588808	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2588809	0.86[ASN][1000 genomes]
rs2588813	0.84[CEU][hapmap]
rs2588814	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2588815	0.84[CEU][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2588816	0.84[CEU][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2588818	0.84[CEU][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2588819	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2588820	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2588821	0.84[CEU][hapmap];0.82[AMR][1000 genomes]
rs2588823	0.84[CEU][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2588824	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2588825	0.84[CEU][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2588826	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2588827	0.84[EUR][1000 genomes]
rs2588828	0.84[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2588829	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2588830	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs2588831	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs2588832	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs2588833	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2588834	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767365	0.94[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767366	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs2767367	0.87[EUR][1000 genomes]
rs2767368	0.88[EUR][1000 genomes]
rs2767377	0.86[ASN][1000 genomes]
rs2767378	0.86[ASN][1000 genomes]
rs2767379	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2767382	0.82[EUR][1000 genomes]
rs2767383	0.84[CEU][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2767384	0.84[CEU][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34558039	0.83[EUR][1000 genomes]
rs35701137	0.85[ASN][1000 genomes]
rs365934	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs372143	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs373918	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs378408	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs401021	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs411547	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs419450	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs424032	0.92[EUR][1000 genomes]
rs431649	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs435620	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs437585	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs440627	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs445921	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573817	0.84[CEU][hapmap]
rs7141160	1.00[CEU][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7141450	1.00[CEU][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7145044	0.83[CEU][hapmap]
rs7151235	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs7156822	0.88[EUR][1000 genomes]
rs725453	0.86[ASN][1000 genomes]
rs72725183	0.85[EUR][1000 genomes]
rs72725185	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72725186	0.89[EUR][1000 genomes]
rs72725187	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72725188	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8014524	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs959039	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68573800-68591800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:68576400-68592000	Weak transcription	Psoas Muscle	Psoas
3	chr14:68578400-68583400	Weak transcription	HepG2	liver
4	chr14:68578600-68592800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr14:68578800-68584200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr14:68578800-68590800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr14:68579000-68584200	Weak transcription	Colon Smooth Muscle	Colon
8	chr14:68579600-68585000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:68580600-68598200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:68580800-68583200	Weak transcription	Fetal Intestine Large	intestine
11	chr14:68580800-68585400	Weak transcription	Fetal Lung	lung
12	chr14:68581000-68586800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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