Variant report

Variant	rs4431143
Chromosome Location	chr3:105587747-105587748
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:100660714..100661219-chr3:105587461..105588148,2	NB4	blood:
2	chr17:57913805..57916301-chr3:105586626..105589272,2	MCF-7	breast:
3	chr3:42641686..42642395-chr3:105587711..105588497,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000114857	Chromatin interaction
ENSG00000093183	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000166153	Chromatin interaction
ENSG00000136021	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs12054270	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12493071	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12632595	0.81[AFR][1000 genomes]
rs1443100	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1503923	0.96[AMR][1000 genomes]
rs16851512	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs16851553	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs16851673	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16851705	0.96[AMR][1000 genomes]
rs16851706	0.96[AMR][1000 genomes]
rs16851707	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1814078	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1867194	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2028598	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2028599	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2055558	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2055559	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2120104	0.86[ASN][1000 genomes]
rs2301028	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2301034	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2301035	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3213928	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs34360428	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35909361	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3772517	0.88[ASN][1000 genomes]
rs3772522	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3772525	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3821490	0.87[ASN][1000 genomes]
rs4469007	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894956	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62255570	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62255571	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62255572	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62255573	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62255575	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62256353	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62258160	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62261460	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs62261462	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs62261487	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62261489	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62261491	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62261492	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62261493	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62261495	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62261496	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62261497	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62261498	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62261499	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62261538	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62261539	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62263056	0.86[ASN][1000 genomes]
rs62263057	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs62263059	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs62263169	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62263170	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62264260	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6809776	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7619706	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7628896	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7631219	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7641527	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7650046	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs964173	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9657903	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9657924	0.92[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs971109	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9849559	0.86[ASN][1000 genomes]
rs9856147	0.81[EUR][1000 genomes];0.96[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	esv2755185	chr3:105378310-105597310	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1008564	chr3:105554580-105643435	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1008876	chr3:105554580-105645373	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv877312	chr3:105560638-105916506	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105581800-105588800	Active TSS	Right Ventricle	heart
2	chr3:105582200-105588200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr3:105582200-105589000	Active TSS	Right Atrium	heart
4	chr3:105583600-105589000	Active TSS	Left Ventricle	heart
5	chr3:105584200-105589200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:105584400-105588600	Active TSS	HSMM	muscle
7	chr3:105584600-105588600	Active TSS	Stomach Smooth Muscle	stomach
8	chr3:105584600-105589200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:105584800-105588600	Active TSS	NHDF-Ad	bronchial
10	chr3:105585000-105588400	Active TSS	Primary T cells fromperipheralblood	blood
11	chr3:105585000-105588400	Active TSS	HMEC	breast
12	chr3:105585000-105588600	Active TSS	Fetal Stomach	stomach
13	chr3:105585200-105588400	Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr3:105585200-105588400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr3:105585200-105588400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr3:105585200-105588400	Active TSS	Placenta	Placenta
17	chr3:105585200-105588400	Active TSS	NH-A	brain
18	chr3:105585200-105588600	Active TSS	Muscle Satellite Cultured Cells	--
19	chr3:105585200-105588600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:105585200-105588600	Active TSS	Fetal Muscle Leg	muscle
21	chr3:105585200-105588600	Active TSS	HSMMtube	muscle
22	chr3:105585200-105588600	Active TSS	NHLF	lung
23	chr3:105585200-105588800	Active TSS	Fetal Kidney	kidney
24	chr3:105585200-105589000	Active TSS	Ovary	ovary
25	chr3:105585200-105589000	Active TSS	Psoas Muscle	Psoas
26	chr3:105585400-105588200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr3:105585400-105588400	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr3:105585400-105588400	Active TSS	Fetal Brain Female	brain
29	chr3:105585400-105588800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:105585400-105588800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr3:105585600-105588400	Active TSS	Fetal Lung	lung
32	chr3:105585600-105588600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:105585600-105588600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:105585600-105588600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:105585600-105588800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:105585600-105588800	Active TSS	Aorta	Aorta
37	chr3:105585600-105589000	Active TSS	Fetal Muscle Trunk	muscle
38	chr3:105585600-105589200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr3:105585800-105588400	Active TSS	HUVEC	blood vessel
40	chr3:105585800-105588400	Active TSS	Osteobl	bone
41	chr3:105585800-105588600	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr3:105585800-105588800	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr3:105585800-105589000	Active TSS	H1 Cell Line	embryonic stem cell
44	chr3:105585800-105589000	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr3:105585800-105589200	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr3:105586000-105588400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:105586000-105588400	Active TSS	Fetal Heart	heart
48	chr3:105586000-105588600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr3:105586000-105588600	Active TSS	K562	blood
50	chr3:105586000-105588800	Active TSS	Colon Smooth Muscle	Colon

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