Variant report

Variant	rs1565307
Chromosome Location	chr4:143287926-143287927
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10021260	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1120454	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12499068	0.83[JPT][hapmap]
rs12640900	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1391092	0.81[AMR][1000 genomes]
rs1497393	1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1497396	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17658809	0.83[JPT][hapmap]
rs2200841	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28435783	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28707318	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6842192	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7666932	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9308149	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs931420	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs977617	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9998814	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9998945	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats 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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143273400-143299000	Weak transcription	Left Ventricle	heart
2	chr4:143274800-143288800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:143275400-143288000	Weak transcription	Aorta	Aorta
4	chr4:143276200-143289800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:143277000-143288000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:143277000-143288000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:143277200-143288000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:143277800-143289800	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr4:143278400-143294200	Weak transcription	Stomach Mucosa	stomach
10	chr4:143284000-143288000	Weak transcription	Primary T cells from cord blood	blood
11	chr4:143284200-143288000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:143284800-143289400	Enhancers	HSMM	muscle
13	chr4:143285000-143288200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr4:143285000-143294600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr4:143285200-143288000	Weak transcription	A549	lung
16	chr4:143285200-143288600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr4:143285200-143290200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:143285200-143298400	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr4:143285800-143288000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr4:143285800-143288600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:143285800-143288800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr4:143285800-143289000	Weak transcription	Dnd41	blood
23	chr4:143285800-143289200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:143285800-143290000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:143285800-143290400	Enhancers	NHDF-Ad	bronchial
26	chr4:143286000-143288200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr4:143286000-143288800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr4:143286000-143289200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:143286000-143290600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:143286200-143288600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:143286200-143289200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr4:143286200-143290000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr4:143286200-143290600	Enhancers	HMEC	breast
34	chr4:143286400-143288000	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr4:143286400-143288200	Weak transcription	NH-A	brain
36	chr4:143286400-143288400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:143286400-143288400	Enhancers	NHLF	lung
38	chr4:143286400-143290400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:143286600-143288000	Enhancers	NHEK	skin
40	chr4:143286600-143288200	Weak transcription	Fetal Brain Male	brain
41	chr4:143286800-143288000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:143286800-143288000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:143286800-143288000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr4:143286800-143288000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:143286800-143288000	Weak transcription	Fetal Brain Female	brain
46	chr4:143286800-143288000	Weak transcription	Fetal Kidney	kidney
47	chr4:143286800-143288000	Weak transcription	Fetal Lung	lung
48	chr4:143286800-143288200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr4:143286800-143288200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:143286800-143288200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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