Variant report

Variant	rs1438732
Chromosome Location	chr5:142756266-142756267
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:142727870..142729788-chr5:142756178..142758195,2	K562	blood:
2	chr5:142755516..142757732-chr5:142765835..142767603,2	K562	blood:
3	chr5:142745006..142750085-chr5:142752614..142756779,5	K562	blood:
4	chr5:142754969..142757845-chr5:142761710..142763692,2	K562	blood:
5	chr5:142755476..142757016-chr5:142765835..142768238,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10052957	1.00[JPT][hapmap]
rs10482614	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10515522	0.94[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11747997	0.95[ASN][1000 genomes]
rs11749561	1.00[JPT][hapmap]
rs1635475	0.80[ASN][1000 genomes]
rs174048	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs174050	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1837262	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1866388	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs190488	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2043840	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs258748	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs258750	1.00[JPT][hapmap]
rs258751	0.95[ASN][1000 genomes]
rs258752	0.80[ASN][1000 genomes]
rs258753	0.85[JPT][hapmap]
rs258813	1.00[JPT][hapmap]
rs258814	0.95[ASN][1000 genomes]
rs2918415	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2918416	1.00[JPT][hapmap]
rs2918417	1.00[JPT][hapmap]
rs2918418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2918419	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2963148	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2963149	1.00[JPT][hapmap]
rs2963150	1.00[ASN][1000 genomes]
rs2963151	0.94[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2963154	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33380	1.00[ASN][1000 genomes]
rs33381	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33382	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33389	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41423247	0.87[AFR][1000 genomes]
rs55817235	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56150733	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61752263	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6188	1.00[JPT][hapmap]
rs6194	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6196	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6861962	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs712189	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs72801054	0.86[EUR][1000 genomes]
rs72801080	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72801090	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72801096	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs852977	1.00[JPT][hapmap]
rs852978	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs852979	0.93[ASN][1000 genomes]
rs852982	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs852984	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs853156	0.80[ASN][1000 genomes]
rs853157	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs853176	0.80[ASN][1000 genomes]
rs853179	0.83[ASN][1000 genomes]
rs853182	0.95[ASN][1000 genomes]
rs853184	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs860457	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs860458	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs864082	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs864355	0.83[ASN][1000 genomes]
rs865482	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9324918	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[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	nsv1023976	chr5:142692062-142813664	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142725000-142764200	Weak transcription	Lung	lung
2	chr5:142734000-142756400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:142739400-142763600	Weak transcription	Thymus	Thymus
4	chr5:142741400-142757000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr5:142741600-142771600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:142742600-142762400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:142742800-142758800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:142743000-142756800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:142743200-142764200	Weak transcription	HepG2	liver
10	chr5:142744000-142762200	Weak transcription	K562	blood
11	chr5:142744600-142762400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:142745400-142764200	Weak transcription	Fetal Stomach	stomach
13	chr5:142746200-142760000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr5:142747800-142762000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr5:142747800-142762200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:142748600-142756800	Weak transcription	Esophagus	oesophagus
17	chr5:142748600-142756800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:142748800-142756400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr5:142748800-142761400	Weak transcription	Fetal Muscle Leg	muscle
20	chr5:142748800-142762200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr5:142749200-142761200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:142749800-142758800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:142750400-142764200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:142750600-142756400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr5:142751000-142757800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr5:142751200-142764600	Weak transcription	Gastric	stomach
27	chr5:142752400-142764600	Weak transcription	Brain Angular Gyrus	brain
28	chr5:142752800-142762000	Weak transcription	Fetal Lung	lung
29	chr5:142752800-142763600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr5:142753000-142756800	Weak transcription	Brain Hippocampus Middle	brain
31	chr5:142753200-142763000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:142753600-142763600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr5:142754000-142757400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:142754200-142757000	Strong transcription	Dnd41	blood
35	chr5:142754200-142757200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:142754400-142757400	Enhancers	Fetal Heart	heart
37	chr5:142754400-142762800	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr5:142754600-142756800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr5:142754600-142756800	Weak transcription	Left Ventricle	heart
40	chr5:142754600-142760000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr5:142754600-142762000	Weak transcription	Primary B cells from cord blood	blood
42	chr5:142754800-142756800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:142754800-142756800	Weak transcription	Fetal Thymus	thymus
44	chr5:142754800-142761200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr5:142754800-142762000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr5:142754800-142764000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr5:142755000-142761400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr5:142755200-142757000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:142755400-142757400	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr5:142755400-142759400	Enhancers	NHDF-Ad	bronchial

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