Variant report

Variant	rs13362239
Chromosome Location	chr5:58320954-58320955
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:53)

rs_ID	r²[population]
rs10052704	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10053177	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10061320	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10063703	0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10065498	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10067196	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10069187	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10940638	1.00[CEU][hapmap];0.96[CHB][hapmap];0.96[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11750426	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11948356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957827	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13357540	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13361043	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13362296	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888990	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16888998	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1874857	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1874858	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1874859	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2055296	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2055297	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2055298	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2291851	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2291852	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4279300	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4469166	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4631140	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4699932	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4700315	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4700316	0.89[YRI][hapmap]
rs4700317	1.00[CEU][hapmap];0.96[CHB][hapmap];0.96[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58779089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58940834	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61511922	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62358484	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62358490	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62358491	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62358492	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6450498	0.88[YRI][hapmap]
rs6876057	1.00[CEU][hapmap];0.96[CHB][hapmap];0.96[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6888474	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7714489	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7723432	0.83[CHB][hapmap];0.83[YRI][hapmap]
rs7727206	0.83[CHB][hapmap];0.83[YRI][hapmap]
rs7729722	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7733884	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7735570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9283720	0.84[YRI][hapmap]
rs9292184	0.83[CHB][hapmap];0.88[YRI][hapmap]
rs9292186	0.89[YRI][hapmap]
rs9292187	0.89[YRI][hapmap]
rs9292188	0.89[YRI][hapmap]
rs9292189	0.84[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830312	chr5:58191579-58382226	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1032308	chr5:58312468-58371239	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58279600-58330400	Weak transcription	Fetal Stomach	stomach
2	chr5:58281800-58321600	Weak transcription	Osteobl	bone
3	chr5:58286200-58330400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:58286200-58330600	Weak transcription	Thymus	Thymus
5	chr5:58288800-58330600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:58296000-58321600	Weak transcription	Aorta	Aorta
7	chr5:58302400-58321600	Weak transcription	Gastric	stomach
8	chr5:58307000-58322000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:58310800-58323400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:58313000-58333400	Weak transcription	Lung	lung
11	chr5:58313200-58325600	Weak transcription	Fetal Lung	lung
12	chr5:58313200-58330200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:58314400-58323200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:58314600-58321600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:58314800-58323000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:58315000-58325800	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:58317200-58322800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr5:58317200-58323400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:58317200-58331600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:58317400-58325200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:58317600-58321600	Weak transcription	Right Atrium	heart
22	chr5:58317600-58321600	Weak transcription	HepG2	liver
23	chr5:58317800-58331800	Weak transcription	Fetal Intestine Small	intestine
24	chr5:58318000-58333000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr5:58318200-58321600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:58318200-58321600	Weak transcription	Pancreas	Pancrea
27	chr5:58318400-58321400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:58318400-58321600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr5:58318400-58321800	Weak transcription	Fetal Heart	heart
30	chr5:58318400-58330600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr5:58318600-58321200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:58318600-58321600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr5:58318600-58321600	Weak transcription	Esophagus	oesophagus
34	chr5:58318600-58321600	Weak transcription	Fetal Thymus	thymus
35	chr5:58318600-58321600	Weak transcription	Psoas Muscle	Psoas
36	chr5:58318600-58321600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr5:58318600-58321600	Weak transcription	HSMM	muscle
38	chr5:58318600-58321800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:58318600-58321800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:58318600-58322000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:58318600-58322800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr5:58318600-58322800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr5:58318600-58323800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr5:58318600-58330400	Weak transcription	Right Ventricle	heart
45	chr5:58318600-58330600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr5:58318600-58333000	Weak transcription	Left Ventricle	heart
47	chr5:58318600-58333200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr5:58319200-58321200	Weak transcription	Primary T cells from cord blood	blood
49	chr5:58319200-58324200	Weak transcription	Hela-S3	cervix
50	chr5:58319600-58321200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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