Variant report

Variant	rs72734223
Chromosome Location	chr4:152994097-152994098
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17028529	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17028536	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17028537	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17028543	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28498454	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56178482	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57279473	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58364558	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61396838	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66776773	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67298257	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67947413	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734217	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72734229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72734235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3466425	chr4:152988702-152994200	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
5	nsv968029	chr4:152988941-152994456	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
6	esv7858	chr4:152990099-152994161	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
7	nsv595740	chr4:152991055-152994190	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
8	esv3408353	chr4:152991402-152996100	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152983800-153000800	Enhancers	Fetal Thymus	thymus
2	chr4:152985200-152996200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:152985200-153000000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr4:152986800-152998000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr4:152989400-153000400	Enhancers	Thymus	Thymus
6	chr4:152990400-152995000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr4:152990400-152995200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr4:152990400-152997600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr4:152990400-152998600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr4:152990400-153000000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:152990600-152995000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr4:152990800-152996600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr4:152991200-152995000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr4:152992200-152995400	Weak transcription	Primary T cells from cord blood	blood
15	chr4:152992800-152994600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:152992800-152995200	Enhancers	Left Ventricle	heart
17	chr4:152992800-152996200	Enhancers	Fetal Heart	heart
18	chr4:152993000-152996800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr4:152993200-152995200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:152993200-152995200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:152993400-152994400	Weak transcription	Lung	lung
22	chr4:152993400-152994600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:152993400-152995200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr4:152993600-152994200	Enhancers	Dnd41	blood
25	chr4:152993600-152994800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:152993600-152995000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:152993600-152995200	Enhancers	Right Atrium	heart
28	chr4:152993800-152995000	Weak transcription	Brain Anterior Caudate	brain
29	chr4:152994000-152995200	Enhancers	Fetal Muscle Trunk	muscle
30	chr4:152994000-152995400	Weak transcription	Right Ventricle	heart
31	chr4:152994000-152996400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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