Variant report

Variant	rs1453002
Chromosome Location	chr5:93218019-93218020
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10062291	1.00[ASN][1000 genomes]
rs10066088	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10066323	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070314	1.00[ASN][1000 genomes]
rs10076457	0.92[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.89[TSI][hapmap];0.94[YRI][hapmap];1.00[ASN][1000 genomes]
rs1026280	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1026281	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1031422	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10476595	1.00[ASN][1000 genomes]
rs10514378	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10866759	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11135399	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1372037	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083315	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083337	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869277	1.00[CEU][hapmap]
rs2119449	1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2344918	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2345364	1.00[ASN][1000 genomes]
rs2924375	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2924377	1.00[CEU][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35147150	0.88[EUR][1000 genomes]
rs4242233	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4380636	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4607342	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869203	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.94[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869204	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869205	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869208	0.88[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.89[TSI][hapmap];0.94[YRI][hapmap];1.00[ASN][1000 genomes]
rs57046989	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57881693	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6556835	0.84[AMR][1000 genomes]
rs6556841	1.00[ASN][1000 genomes]
rs6868462	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6868481	1.00[ASN][1000 genomes]
rs6873825	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6874223	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893023	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6894989	1.00[ASN][1000 genomes]
rs73137117	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137123	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137126	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137133	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137142	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710880	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7715555	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723944	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7729237	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7730993	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9314089	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9314090	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9314091	1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv532196	chr5:92933949-93573527	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv830405	chr5:93086825-93258518	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv882384	chr5:93136661-93380123	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1033466	chr5:93201089-93250608	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1028893	chr5:93213264-93276883	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93181200-93223400	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr5:93181400-93222600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:93181400-93231200	Weak transcription	Adipose Nuclei	Adipose
4	chr5:93181600-93222000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:93182000-93222600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr5:93192600-93222000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr5:93193400-93220800	Weak transcription	Liver	Liver
8	chr5:93194000-93219400	Weak transcription	Fetal Lung	lung
9	chr5:93194200-93222400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr5:93194200-93307600	Weak transcription	Left Ventricle	heart
11	chr5:93194400-93222400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:93194400-93222400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr5:93194400-93222600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr5:93194400-93232800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr5:93195600-93222200	Weak transcription	Dnd41	blood
16	chr5:93195800-93222200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:93196200-93222600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr5:93198800-93222000	Weak transcription	HSMM	muscle
19	chr5:93202200-93222800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr5:93202400-93226400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:93207800-93226200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:93209600-93221800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:93210000-93222400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:93210400-93222600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:93210400-93232200	Weak transcription	Primary T cells from cord blood	blood
26	chr5:93211200-93222800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr5:93211400-93222200	Weak transcription	Ovary	ovary
28	chr5:93212600-93222400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:93212800-93219400	Weak transcription	Fetal Intestine Large	intestine
30	chr5:93213000-93256400	Weak transcription	Primary B cells from cord blood	blood
31	chr5:93213600-93218400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr5:93215000-93225600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:93215200-93218600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr5:93216600-93232000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:93216800-93219200	Weak transcription	Fetal Kidney	kidney
36	chr5:93217000-93222800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr5:93218000-93220200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:93218000-93230000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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