Variant report

Variant	rs4379132
Chromosome Location	chr4:143206988-143206989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10013559	0.96[ASN][1000 genomes]
rs10016877	0.80[ASN][1000 genomes]
rs13107331	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13120471	0.96[ASN][1000 genomes]
rs13120882	0.96[ASN][1000 genomes]
rs13146882	0.96[ASN][1000 genomes]
rs17015869	0.80[ASN][1000 genomes]
rs1872297	0.80[ASN][1000 genomes]
rs1907118	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28380511	0.80[ASN][1000 genomes]
rs28463981	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28707477	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34934163	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35623902	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3775686	0.80[ASN][1000 genomes]
rs3775687	0.80[ASN][1000 genomes]
rs3775689	0.80[ASN][1000 genomes]
rs3822151	0.80[ASN][1000 genomes]
rs4557352	0.95[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	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	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
4	nsv595604	chr4:143077401-143228914	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv830099	chr4:143138257-143285055	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143187400-143218600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:143192000-143210600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:143192000-143219400	Weak transcription	Dnd41	blood
4	chr4:143196000-143225200	Weak transcription	NHDF-Ad	bronchial
5	chr4:143199400-143230800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:143200000-143215000	Weak transcription	HSMMtube	muscle
7	chr4:143200000-143240000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:143200200-143210600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:143202000-143207400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:143203800-143207400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:143204000-143230600	Weak transcription	Left Ventricle	heart
12	chr4:143204200-143209000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:143204200-143209200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:143204200-143210600	Weak transcription	HMEC	breast
15	chr4:143204200-143229000	Weak transcription	NHEK	skin
16	chr4:143204600-143233600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr4:143204800-143212600	Weak transcription	HSMM	muscle
18	chr4:143206000-143207000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr4:143206000-143207400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:143206000-143208200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:143206000-143233400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr4:143206200-143207000	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr4:143206200-143207200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:143206400-143208200	Weak transcription	Primary T cells from cord blood	blood
25	chr4:143206400-143208400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr4:143206600-143207000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:143206600-143209400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr4:143206800-143207000	Enhancers	Aorta	Aorta
29	chr4:143206800-143207800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:143206800-143210600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr4:143206800-143210800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr4:143206800-143211000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr4:143206800-143215600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr4:143206800-143216200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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