Variant report

Variant	rs2306913
Chromosome Location	chr4:143323915-143323916
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11722756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511267	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13128245	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13135641	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13138212	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13140802	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1489577	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1489578	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1497389	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1565306	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1982966	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173209	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2627806	0.85[AFR][1000 genomes]
rs34830426	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35151914	0.87[ASN][1000 genomes]
rs3775703	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775705	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3775706	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3775710	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3775711	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3822157	0.88[ASN][1000 genomes]
rs6825345	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72724560	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7699598	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs881611	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs983767	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143300200-143326200	Weak transcription	Aorta	Aorta
2	chr4:143301200-143326200	Weak transcription	Gastric	stomach
3	chr4:143301600-143325400	Weak transcription	Left Ventricle	heart
4	chr4:143313000-143326200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:143318000-143324000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:143320600-143324600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr4:143320600-143326600	Active TSS	Primary T cells fromperipheralblood	blood
8	chr4:143320800-143328000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:143321000-143326800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:143321400-143326600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:143321400-143326600	Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr4:143321600-143324400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:143321600-143324400	Transcr. at gene 5' and 3'	Dnd41	blood
14	chr4:143321800-143324200	Transcr. at gene 5' and 3'	HMEC	breast
15	chr4:143322000-143326400	Active TSS	Fetal Muscle Leg	muscle
16	chr4:143322200-143324400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:143322200-143326600	Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr4:143322200-143326600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr4:143322400-143324000	Weak transcription	Psoas Muscle	Psoas
20	chr4:143322400-143324800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:143322400-143326400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:143322600-143325400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr4:143322600-143326600	Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr4:143322800-143324400	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr4:143322800-143324400	Flanking Active TSS	NHDF-Ad	bronchial
26	chr4:143322800-143325400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:143323000-143324200	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:143323000-143324400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr4:143323000-143324400	Enhancers	Fetal Lung	lung
30	chr4:143323000-143325400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:143323200-143324000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:143323200-143324000	Enhancers	Brain Anterior Caudate	brain
33	chr4:143323200-143324200	Active TSS	Fetal Muscle Trunk	muscle
34	chr4:143323200-143324200	Enhancers	A549	lung
35	chr4:143323200-143324200	Transcr. at gene 5' and 3'	NHEK	skin
36	chr4:143323200-143324400	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr4:143323200-143324400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr4:143323200-143324400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr4:143323200-143324400	Transcr. at gene 5' and 3'	HSMM	muscle
40	chr4:143323200-143324400	Flanking Active TSS	Osteobl	bone
41	chr4:143323200-143325000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr4:143323200-143325000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr4:143323200-143325400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr4:143323200-143325600	Enhancers	Fetal Heart	heart
45	chr4:143323200-143326600	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr4:143323400-143324000	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
47	chr4:143323400-143324000	Enhancers	Brain Germinal Matrix	brain
48	chr4:143323400-143324000	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr4:143323400-143324200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:143323400-143324200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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