Variant report

Variant	rs13148456
Chromosome Location	chr4:143064439-143064440
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13107751	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs13109869	0.87[TSI][hapmap]
rs13133767	0.92[MEX][hapmap]
rs13139397	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13150427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13152233	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17468315	1.00[ASW][hapmap];0.92[MEX][hapmap]
rs2055212	1.00[CEU][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs2055213	1.00[CEU][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs34117773	1.00[ASN][1000 genomes]
rs34204414	0.85[AMR][1000 genomes]
rs34564415	0.80[AMR][1000 genomes]
rs34733226	0.85[AMR][1000 genomes]
rs35107973	0.87[AMR][1000 genomes]
rs35390852	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3775666	0.85[AMR][1000 genomes]
rs3775670	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3775671	1.00[ASW][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes]
rs3775680	1.00[CEU][hapmap]
rs55649528	0.85[AMR][1000 genomes]
rs67039841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67997859	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]

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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830097	chr4:142949705-143136372	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv830098	chr4:143050143-143234384	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143018800-143109600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:143025400-143066800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:143031000-143064800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:143043400-143089000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:143049800-143114400	Weak transcription	Right Ventricle	heart
6	chr4:143050000-143079600	Weak transcription	NHDF-Ad	bronchial
7	chr4:143051400-143093400	Weak transcription	Left Ventricle	heart
8	chr4:143051800-143070600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:143052400-143081400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr4:143052400-143111600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:143052600-143081400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:143052600-143094600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:143054800-143065600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr4:143057600-143078800	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:143057800-143070200	Weak transcription	Fetal Heart	heart
16	chr4:143057800-143079000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:143057800-143114400	Weak transcription	Aorta	Aorta
18	chr4:143058000-143181000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:143059800-143068600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:143060400-143072400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr4:143061000-143081000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:143061200-143069400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:143061200-143079000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr4:143061200-143079200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:143061800-143069200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:143061800-143102200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:143062200-143065000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:143062200-143066000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr4:143062200-143066200	Weak transcription	Primary T cells from cord blood	blood
30	chr4:143062200-143068800	Weak transcription	HSMMtube	muscle
31	chr4:143062200-143081200	Weak transcription	NHEK	skin
32	chr4:143062400-143066400	Weak transcription	HMEC	breast
33	chr4:143063600-143064600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:143063600-143064600	Strong transcription	HSMM	muscle
35	chr4:143063600-143064800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
36	chr4:143063600-143066200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr4:143063600-143067200	Strong transcription	Dnd41	blood
38	chr4:143063600-143069800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:143063800-143064600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
40	chr4:143064000-143065800	Enhancers	A549	lung
41	chr4:143064200-143065600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:143064200-143078800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:143064200-143080200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:143064200-143093200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr4:143064400-143064600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr4:143064400-143065200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr4:143064400-143066200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr4:143064400-143069800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr4:143064400-143078600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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