Variant report

Variant	rs55951057
Chromosome Location	chr4:152986232-152986233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs16998854	0.89[AFR][1000 genomes]
rs17028519	1.00[AMR][1000 genomes]
rs17028523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17028527	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17028529	0.85[AFR][1000 genomes]
rs17028532	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17028534	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17028536	0.80[AFR][1000 genomes]
rs17028537	0.80[AFR][1000 genomes]
rs17028543	0.80[AFR][1000 genomes]
rs56178482	0.80[AFR][1000 genomes]
rs56308140	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56347809	1.00[AMR][1000 genomes]
rs56364547	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57279473	0.80[AFR][1000 genomes]
rs58364558	0.85[AFR][1000 genomes]
rs60062078	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60708822	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60726234	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61149531	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61374994	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61396838	0.87[AFR][1000 genomes]
rs61563040	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs66776773	0.80[AFR][1000 genomes]
rs67298257	0.80[AFR][1000 genomes]
rs67947413	0.87[AFR][1000 genomes]
rs72734217	0.80[AFR][1000 genomes]
rs72968641	1.00[AMR][1000 genomes]
rs72968645	1.00[AMR][1000 genomes]
rs72970421	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72970442	0.89[AFR][1000 genomes]
rs72970444	0.89[AFR][1000 genomes]
rs72970445	0.89[AFR][1000 genomes]
rs72970453	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72970454	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72970456	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72970457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72970464	0.84[AFR][1000 genomes];1.00[AMR][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	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	nsv461679	chr4:152935555-152992741	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv595734	chr4:152935555-152992741	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152983800-153000800	Enhancers	Fetal Thymus	thymus
2	chr4:152984000-152986600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr4:152984000-152988000	Enhancers	Dnd41	blood
4	chr4:152984000-152988200	Enhancers	Thymus	Thymus
5	chr4:152984200-152986800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr4:152984200-152987200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr4:152984400-152987600	Enhancers	Fetal Muscle Leg	muscle
8	chr4:152984600-152986400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr4:152984800-152986600	Enhancers	Fetal Kidney	kidney
10	chr4:152984800-152986800	Enhancers	Brain Germinal Matrix	brain
11	chr4:152984800-152986800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr4:152984800-152987000	Enhancers	Fetal Heart	heart
13	chr4:152985200-152990000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr4:152985200-152993400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:152985200-152996200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr4:152985200-153000000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:152985400-152986400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:152985400-152986400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr4:152985400-152986400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:152985400-152986400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr4:152985400-152986400	Weak transcription	Left Ventricle	heart
22	chr4:152985400-152986600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr4:152985400-152987000	Enhancers	HSMMtube	muscle
24	chr4:152985600-152986400	Weak transcription	Psoas Muscle	Psoas
25	chr4:152985600-152986800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr4:152985600-152987200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr4:152985800-152986600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr4:152985800-152986800	Weak transcription	Primary T cells from cord blood	blood
29	chr4:152986000-152986400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr4:152986000-152986400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr4:152986200-152986600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:152986200-152987000	Enhancers	Right Ventricle	heart
33	chr4:152986200-152990000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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