Variant report

Variant	rs72939266
Chromosome Location	chr4:143170693-143170694
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2200997	0.81[ASN][1000 genomes]
rs28673676	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3775679	0.81[ASN][1000 genomes]
rs58375747	0.81[ASN][1000 genomes]
rs72939254	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72939257	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72939272	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73850818	0.81[ASN][1000 genomes]
rs73850832	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73850834	0.81[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143058000-143181000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:143135400-143184200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:143151000-143185000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr4:143151200-143174000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr4:143153800-143181000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr4:143157600-143173800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr4:143158200-143173600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr4:143158400-143174000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:143158600-143173800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:143159200-143181000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr4:143159200-143181000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr4:143160200-143171000	Weak transcription	NHEK	skin
13	chr4:143160400-143180000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:143160600-143185000	Weak transcription	HMEC	breast
15	chr4:143160600-143186400	Weak transcription	HSMM	muscle
16	chr4:143164000-143172800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:143164400-143181000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:143164600-143176200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:143164600-143186000	Weak transcription	HSMMtube	muscle
20	chr4:143164800-143170800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:143164800-143172800	Weak transcription	Primary T cells from cord blood	blood
22	chr4:143166600-143173000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:143168000-143171400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:143169800-143171000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr4:143169800-143171000	Enhancers	NHLF	lung
26	chr4:143170000-143171000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:143170000-143171000	Enhancers	NHDF-Ad	bronchial
28	chr4:143170000-143171400	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr4:143170400-143170800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:143170400-143172600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:143170400-143181000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:143170600-143170800	Flanking Active TSS	A549	lung
33	chr4:143170600-143171600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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