Variant report

Variant	rs13176491
Chromosome Location	chr5:56988713-56988714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:56978767..56981076-chr5:56987149..56990064,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10057804	0.85[AFR][1000 genomes]
rs10063185	0.86[EUR][1000 genomes]
rs10461637	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10487615	0.86[AFR][1000 genomes]
rs10805498	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10940571	0.99[EUR][1000 genomes]
rs10940572	0.99[EUR][1000 genomes]
rs10940573	0.99[EUR][1000 genomes]
rs10940575	0.86[EUR][1000 genomes]
rs10940576	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11742452	0.98[EUR][1000 genomes]
rs11955303	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12523268	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12654040	0.85[AFR][1000 genomes]
rs12654403	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13157214	0.99[EUR][1000 genomes]
rs13162397	0.89[EUR][1000 genomes]
rs13166729	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13177213	0.98[EUR][1000 genomes]
rs13183265	0.99[EUR][1000 genomes]
rs13184846	0.99[EUR][1000 genomes]
rs13185021	0.99[EUR][1000 genomes]
rs13186318	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1558367	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16887298	0.86[AFR][1000 genomes]
rs1860575	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2041401	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2041402	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2041403	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2041677	0.87[EUR][1000 genomes]
rs2191444	0.83[ASN][1000 genomes]
rs2191447	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2215418	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2215419	0.85[AFR][1000 genomes]
rs2408845	0.99[EUR][1000 genomes]
rs2408847	0.88[EUR][1000 genomes]
rs2408848	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4141129	0.86[EUR][1000 genomes]
rs4700212	0.99[EUR][1000 genomes]
rs4700213	0.99[EUR][1000 genomes]
rs4700215	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4700217	0.88[EUR][1000 genomes]
rs58041565	0.80[AFR][1000 genomes]
rs6860385	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6862527	0.82[AFR][1000 genomes]
rs6872973	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6885246	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7711714	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7717808	0.83[AFR][1000 genomes]
rs7725863	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7726116	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9292141	0.86[EUR][1000 genomes]
rs978225	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs984529	0.99[EUR][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	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:56985600-56990400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:56986600-56989800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:56986800-56991800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:56987000-56992800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:56987200-56989200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:56987200-56989800	Enhancers	K562	blood
7	chr5:56987400-56988800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:56987400-56988800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:56987400-56994800	Weak transcription	Right Ventricle	heart
10	chr5:56987600-56988800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:56987600-56989000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:56987600-56989000	Weak transcription	Spleen	Spleen
13	chr5:56987600-56989200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:56987600-56991400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:56987600-56991800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:56988200-56989200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:56988200-56989200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:56988200-56989200	Enhancers	Left Ventricle	heart
19	chr5:56988200-56989600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:56988200-56989600	Enhancers	Ovary	ovary
21	chr5:56988200-56990000	Enhancers	Brain Cingulate Gyrus	brain
22	chr5:56988200-56993400	Enhancers	Brain Angular Gyrus	brain
23	chr5:56988400-56989000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:56988400-56989000	Enhancers	Aorta	Aorta
25	chr5:56988400-56989200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:56988400-56989200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:56988400-56989200	Enhancers	Pancreas	Pancrea
28	chr5:56988400-56989200	Enhancers	Right Atrium	heart
29	chr5:56988400-56989200	Enhancers	HMEC	breast
30	chr5:56988400-56989200	Enhancers	HSMM	muscle
31	chr5:56988400-56989200	Enhancers	NHEK	skin
32	chr5:56988400-56989200	Enhancers	Osteobl	bone
33	chr5:56988400-56989400	Enhancers	Liver	Liver
34	chr5:56988400-56989400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr5:56988400-56989600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:56988400-56989600	Enhancers	Psoas Muscle	Psoas
37	chr5:56988400-56989600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr5:56988400-56989600	Enhancers	NHLF	lung
39	chr5:56988400-56989800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr5:56988400-56989800	Enhancers	HSMMtube	muscle
41	chr5:56988400-56989800	Enhancers	NHDF-Ad	bronchial
42	chr5:56988400-56990000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:56988400-56990000	Enhancers	Fetal Intestine Small	intestine
44	chr5:56988400-56990000	Enhancers	Hela-S3	cervix
45	chr5:56988400-56990000	Enhancers	HUVEC	blood vessel
46	chr5:56988400-56990200	Flanking Active TSS	A549	lung
47	chr5:56988400-56990200	Enhancers	NH-A	brain
48	chr5:56988400-56990600	Enhancers	HepG2	liver
49	chr5:56988400-56991600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:56988400-56991800	Enhancers	Fetal Lung	lung

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