Variant report

Variant	rs55997238
Chromosome Location	chr5:112342128-112342129
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs12521395	0.85[EUR][1000 genomes]
rs13185006	0.95[EUR][1000 genomes]
rs3756600	0.90[ASN][1000 genomes]
rs4235775	0.95[EUR][1000 genomes]
rs4235776	0.95[EUR][1000 genomes]
rs4235780	0.95[EUR][1000 genomes]
rs4235781	0.95[EUR][1000 genomes]
rs4235782	0.95[EUR][1000 genomes]
rs4235783	0.95[EUR][1000 genomes]
rs4235784	0.95[EUR][1000 genomes]
rs4235785	0.95[EUR][1000 genomes]
rs4260661	0.95[EUR][1000 genomes]
rs4276396	0.95[EUR][1000 genomes]
rs4295378	0.95[EUR][1000 genomes]
rs4519915	0.95[EUR][1000 genomes]
rs4627978	0.95[EUR][1000 genomes]
rs4705534	0.95[EUR][1000 genomes]
rs4705535	0.89[EUR][1000 genomes]
rs4705536	0.95[EUR][1000 genomes]
rs4705757	0.95[EUR][1000 genomes]
rs4705759	0.95[EUR][1000 genomes]
rs4705760	0.95[EUR][1000 genomes]
rs4705761	0.95[EUR][1000 genomes]
rs4705764	0.95[EUR][1000 genomes]
rs4705765	0.95[EUR][1000 genomes]
rs55940904	0.95[EUR][1000 genomes]
rs56023848	0.95[EUR][1000 genomes]
rs56265422	0.95[EUR][1000 genomes]
rs6594657	0.95[EUR][1000 genomes]
rs6594658	0.95[EUR][1000 genomes]
rs6594666	0.95[EUR][1000 genomes]
rs6594667	0.95[EUR][1000 genomes]
rs6594668	0.95[EUR][1000 genomes]
rs6872473	0.95[EUR][1000 genomes]
rs6881198	0.95[EUR][1000 genomes]
rs6881233	0.95[EUR][1000 genomes]
rs6881426	0.85[EUR][1000 genomes]
rs6881477	0.95[EUR][1000 genomes]
rs6882115	0.95[EUR][1000 genomes]
rs6896675	0.89[EUR][1000 genomes]
rs6897972	0.95[EUR][1000 genomes]
rs7706745	0.89[EUR][1000 genomes]
rs7728495	0.95[EUR][1000 genomes]
rs878074	0.95[EUR][1000 genomes]
rs878075	0.95[EUR][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	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1028759	chr5:112300490-112358514	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv882717	chr5:112336588-112408944	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112314200-112349600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr5:112314200-112356800	Weak transcription	Stomach Mucosa	stomach
3	chr5:112314200-112362600	Weak transcription	Colonic Mucosa	Colon
4	chr5:112314800-112349200	Weak transcription	Brain Substantia Nigra	brain
5	chr5:112315600-112362600	Weak transcription	Brain Angular Gyrus	brain
6	chr5:112317800-112366200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:112318400-112365600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:112319800-112363800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr5:112320000-112364200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:112320600-112362600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:112321200-112364800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:112321400-112363800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr5:112321600-112353800	Weak transcription	Fetal Heart	heart
14	chr5:112322600-112362400	Weak transcription	Psoas Muscle	Psoas
15	chr5:112322800-112362400	Weak transcription	Esophagus	oesophagus
16	chr5:112324800-112369800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:112327800-112364600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:112329400-112356800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr5:112330200-112362800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:112332400-112348600	Weak transcription	Brain Hippocampus Middle	brain
21	chr5:112332400-112352400	Strong transcription	Dnd41	blood
22	chr5:112332400-112355800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:112332400-112372600	Weak transcription	Fetal Brain Male	brain
24	chr5:112332600-112349000	Weak transcription	Fetal Brain Female	brain
25	chr5:112332800-112352200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:112333000-112349400	Weak transcription	NHLF	lung
27	chr5:112333000-112359800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:112333200-112362400	Weak transcription	Right Ventricle	heart
29	chr5:112334000-112342200	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr5:112334000-112342200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr5:112334000-112342400	Strong transcription	GM12878-XiMat	blood
32	chr5:112334000-112365200	Strong transcription	Placenta	Placenta
33	chr5:112334200-112344000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr5:112334200-112350400	Strong transcription	Fetal Intestine Large	intestine
35	chr5:112334200-112350400	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr5:112334200-112352600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:112334800-112347600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:112334800-112352200	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:112335000-112346400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:112335200-112343600	Strong transcription	Fetal Stomach	stomach
41	chr5:112335600-112350200	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr5:112335600-112353200	Strong transcription	Fetal Thymus	thymus
43	chr5:112335800-112342400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:112335800-112342600	Strong transcription	K562	blood
45	chr5:112335800-112344000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr5:112335800-112344400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr5:112335800-112350600	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr5:112335800-112351000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:112336000-112343800	Strong transcription	Fetal Lung	lung
50	chr5:112336400-112350200	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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