Variant report

Variant	rs56143170
Chromosome Location	chr5:58760970-58760971
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1813481	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1813482	1.00[AMR][1000 genomes]
rs1813483	1.00[AMR][1000 genomes]
rs3903515	1.00[AMR][1000 genomes]
rs55874040	1.00[AMR][1000 genomes]
rs55884041	1.00[AMR][1000 genomes]
rs56075849	1.00[AMR][1000 genomes]
rs56085550	1.00[AMR][1000 genomes]
rs56125266	1.00[AMR][1000 genomes]
rs56386809	1.00[AMR][1000 genomes]
rs58287048	1.00[AMR][1000 genomes]
rs59281772	1.00[AMR][1000 genomes]
rs59524261	1.00[AMR][1000 genomes]
rs59983793	1.00[AMR][1000 genomes]
rs6877740	1.00[AMR][1000 genomes]
rs6891130	0.82[AFR][1000 genomes]
rs73758503	1.00[AMR][1000 genomes]
rs73758504	1.00[AMR][1000 genomes]
rs73758505	1.00[AMR][1000 genomes]
rs73758506	1.00[AMR][1000 genomes]
rs73758507	1.00[AMR][1000 genomes]
rs73758509	1.00[AMR][1000 genomes]
rs73758510	1.00[AMR][1000 genomes]
rs73758511	1.00[AMR][1000 genomes]
rs73758512	1.00[AMR][1000 genomes]
rs73758513	1.00[AMR][1000 genomes]
rs73758690	1.00[AMR][1000 genomes]
rs73758692	1.00[AMR][1000 genomes]
rs73758693	1.00[AMR][1000 genomes]
rs73758694	1.00[AMR][1000 genomes]
rs73758695	1.00[AMR][1000 genomes]
rs73758699	1.00[AMR][1000 genomes]
rs73758700	1.00[AMR][1000 genomes]
rs73758701	1.00[AMR][1000 genomes]
rs73758840	1.00[AMR][1000 genomes]
rs73758841	1.00[AMR][1000 genomes]
rs73758842	1.00[AMR][1000 genomes]
rs73760303	1.00[AMR][1000 genomes]
rs73760305	1.00[AMR][1000 genomes]
rs73760361	1.00[AMR][1000 genomes]
rs73760362	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73760365	1.00[AMR][1000 genomes]
rs73760616	1.00[AMR][1000 genomes]
rs73760618	1.00[AMR][1000 genomes]
rs73760620	1.00[AMR][1000 genomes]
rs73760622	1.00[AMR][1000 genomes]
rs73761528	1.00[AMR][1000 genomes]
rs73761530	1.00[AMR][1000 genomes]
rs7715956	0.85[AFR][1000 genomes]
rs7723589	1.00[AMR][1000 genomes]
rs7735649	1.00[AMR][1000 genomes]
rs7735819	1.00[AMR][1000 genomes]
rs931856	1.00[AMR][1000 genomes]
rs931857	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	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1028022	chr5:58673780-58786468	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv881706	chr5:58730111-58865857	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv881707	chr5:58741491-58784102	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58731800-58764800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:58753600-58767400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr5:58754600-58780200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:58755600-58761400	Weak transcription	Fetal Brain Female	brain
5	chr5:58755800-58762600	Weak transcription	Fetal Intestine Large	intestine
6	chr5:58756800-58761600	Weak transcription	Liver	Liver
7	chr5:58756800-58766800	Weak transcription	Gastric	stomach
8	chr5:58756800-58775400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:58756800-58775600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:58757000-58762200	Weak transcription	Fetal Brain Male	brain
11	chr5:58757600-58762400	Weak transcription	Fetal Intestine Small	intestine
12	chr5:58758600-58762200	Weak transcription	Psoas Muscle	Psoas
13	chr5:58758800-58761800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:58759000-58761000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:58759600-58761800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:58759600-58762200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:58759600-58762200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:58759600-58762200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:58759600-58768000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:58760800-58761000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr5:58760800-58761200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:58760800-58761200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:58760800-58761200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr5:58760800-58761200	Transcr. at gene 5' and 3'	A549	lung

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