Variant report

Variant	rs327454
Chromosome Location	chr14:81286983-81286984
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10133034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs10135084	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10141970	0.87[JPT][hapmap]
rs10142753	0.87[JPT][hapmap]
rs1016699	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1038523	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11625199	0.87[JPT][hapmap]
rs11627934	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1197467	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1197473	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1197474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12050151	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs12050342	0.87[JPT][hapmap]
rs12050416	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12433134	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12434318	0.89[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12437260	0.87[JPT][hapmap]
rs12896436	0.81[JPT][hapmap]
rs149626	0.83[EUR][1000 genomes]
rs150997	0.85[EUR][1000 genomes]
rs162171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs162174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162178	0.88[CHB][hapmap];0.86[YRI][hapmap]
rs170595	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs170596	0.87[JPT][hapmap]
rs17111153	0.86[JPT][hapmap]
rs17111237	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs17111246	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs17111256	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs17615020	0.87[JPT][hapmap]
rs1797671	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1863766	0.87[JPT][hapmap]
rs2010847	0.87[JPT][hapmap]
rs2059719	0.81[JPT][hapmap]
rs2162547	0.81[JPT][hapmap]
rs228109	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs228119	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs228122	0.87[JPT][hapmap]
rs228124	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2284722	0.81[JPT][hapmap]
rs2288347	0.87[JPT][hapmap]
rs2371421	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2371456	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2556604	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2556607	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2556611	0.87[JPT][hapmap]
rs2556615	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2619661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28850656	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2888032	0.87[JPT][hapmap]
rs327423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs327424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs327426	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs327428	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.80[EUR][1000 genomes]
rs327429	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs327431	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs327434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs327435	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs327440	0.94[CHB][hapmap]
rs327442	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs327443	0.89[CHB][hapmap];0.92[YRI][hapmap]
rs327446	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs327451	0.92[CEU][hapmap];0.99[ASN][1000 genomes]
rs327452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs327456	0.86[CHB][hapmap]
rs327457	0.93[CHB][hapmap]
rs327462	0.94[CHB][hapmap]
rs327463	0.94[CHB][hapmap]
rs327467	0.88[CHB][hapmap]
rs327470	0.94[CHB][hapmap]
rs327472	0.94[CHB][hapmap]
rs328206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs328212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs328213	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs328258	0.94[CHB][hapmap]
rs4899779	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4899780	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4899781	0.80[ASN][1000 genomes]
rs4903944	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4903949	0.87[JPT][hapmap]
rs58625998	0.92[ASN][1000 genomes]
rs6574606	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6574608	0.87[JPT][hapmap]
rs6574609	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6574610	0.87[JPT][hapmap]
rs6574611	0.80[ASN][1000 genomes]
rs7140452	0.96[CEU][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7147306	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7156306	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7156572	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7157845	0.87[JPT][hapmap]
rs7158936	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs722906	0.87[JPT][hapmap]
rs72693011	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72693013	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7493314	0.85[JPT][hapmap]
rs759919	0.94[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs768359	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8008366	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8009508	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8010491	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8011273	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs8016507	0.87[JPT][hapmap]
rs8017038	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9323694	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9671671	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81192800-81305400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:81281600-81304200	Weak transcription	Primary T cells from cord blood	blood
3	chr14:81282800-81290000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:81283000-81288800	Weak transcription	Aorta	Aorta
5	chr14:81284200-81287000	ZNF genes & repeats	Dnd41	blood
6	chr14:81284400-81291800	Strong transcription	Fetal Thymus	thymus
7	chr14:81284600-81291200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:81284800-81288200	Weak transcription	Pancreas	Pancrea
9	chr14:81284800-81290000	Weak transcription	Fetal Stomach	stomach
10	chr14:81284800-81290200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr14:81285000-81288000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:81285000-81288000	Weak transcription	Thymus	Thymus
13	chr14:81285000-81290000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:81285000-81290800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:81285000-81291200	Weak transcription	Fetal Brain Female	brain
16	chr14:81285000-81304600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr14:81285000-81310200	Weak transcription	A549	lung
18	chr14:81285000-81311200	Weak transcription	Ovary	ovary
19	chr14:81285200-81290000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr14:81285200-81315600	Weak transcription	HSMM	muscle
21	chr14:81285400-81290200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr14:81285600-81290000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:81285600-81290000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:81286000-81287000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:81286200-81290000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:81286200-81290400	Weak transcription	Left Ventricle	heart
27	chr14:81286200-81305800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:81286400-81289000	Weak transcription	Fetal Intestine Small	intestine
29	chr14:81286400-81292200	Weak transcription	Brain Hippocampus Middle	brain
30	chr14:81286600-81287000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:81286600-81288200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:81286600-81290000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr14:81286800-81287200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:81286800-81287400	Enhancers	NHLF	lung

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