Variant report

Variant	rs6880372
Chromosome Location	chr5:115241758-115241759
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10039749	0.93[ASN][1000 genomes]
rs10075784	0.82[ASN][1000 genomes]
rs10751460	0.91[ASN][1000 genomes]
rs11241336	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11241337	0.91[ASN][1000 genomes]
rs12188972	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12332653	0.92[ASN][1000 genomes]
rs12513891	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12514553	0.89[ASN][1000 genomes]
rs12517882	0.90[ASN][1000 genomes]
rs12519850	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12520442	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12523122	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13157716	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13179199	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13361489	0.88[ASN][1000 genomes]
rs152368	0.88[ASN][1000 genomes]
rs152369	0.87[ASN][1000 genomes]
rs152397	0.87[ASN][1000 genomes]
rs152398	0.88[ASN][1000 genomes]
rs171809	0.86[ASN][1000 genomes]
rs2080902	0.90[ASN][1000 genomes]
rs26529	0.88[ASN][1000 genomes]
rs26537	0.81[ASN][1000 genomes]
rs26538	0.86[ASN][1000 genomes]
rs35238578	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35501287	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs36083750	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3733902	0.87[ASN][1000 genomes]
rs3797564	0.84[ASN][1000 genomes]
rs3797565	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3797566	0.82[ASN][1000 genomes]
rs3797567	0.93[ASN][1000 genomes]
rs3797568	0.91[ASN][1000 genomes]
rs3797569	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41332950	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4143542	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59750231	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61381571	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6879485	0.92[ASN][1000 genomes]
rs71581217	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7707539	0.91[ASN][1000 genomes]
rs7708164	0.82[ASN][1000 genomes]
rs7713314	0.89[ASN][1000 genomes]
rs7723291	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv949677	chr5:115104829-115496168	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1027418	chr5:115206256-115446861	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv515611	chr5:115208843-115428381	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1021968	chr5:115213162-115426468	Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1024008	chr5:115222974-115431050	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1027117	chr5:115222974-115442883	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	esv2763487	chr5:115222986-115442895	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv462400	chr5:115223504-115428381	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv599478	chr5:115223504-115428381	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv1030480	chr5:115228889-115446861	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv599479	chr5:115233116-115450969	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv1029427	chr5:115236239-115387283	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	nsv1015976	chr5:115236239-115434163	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
15	nsv537868	chr5:115236239-115434163	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
16	esv3387625	chr5:115238570-115249194	Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv8099	chr5:115238622-115249099	Strong transcription Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv3414061	chr5:115238631-115249108	Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv2896	chr5:115238638-115249207	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115195400-115263200	Weak transcription	Aorta	Aorta
2	chr5:115205600-115254200	Weak transcription	Small Intestine	intestine
3	chr5:115207600-115244600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr5:115207600-115253800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:115207600-115254600	Weak transcription	Fetal Kidney	kidney
6	chr5:115207800-115250800	Weak transcription	Adipose Nuclei	Adipose
7	chr5:115207800-115254000	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:115208000-115253400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:115218600-115253000	Weak transcription	Placenta	Placenta
10	chr5:115218800-115253600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr5:115219000-115252800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:115219200-115252800	Weak transcription	Pancreas	Pancrea
13	chr5:115219200-115253200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:115219400-115246800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:115219400-115251000	Weak transcription	Fetal Lung	lung
16	chr5:115219400-115252600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:115219600-115256000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:115221400-115253800	Weak transcription	Fetal Stomach	stomach
19	chr5:115221400-115254400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:115222000-115252800	Weak transcription	Fetal Intestine Small	intestine
21	chr5:115225600-115253200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:115228000-115249200	Weak transcription	HSMMtube	muscle
23	chr5:115230200-115254000	Weak transcription	Ovary	ovary
24	chr5:115230600-115250200	Weak transcription	Liver	Liver
25	chr5:115231600-115245800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:115231600-115247200	Weak transcription	NHDF-Ad	bronchial
27	chr5:115234400-115252200	Weak transcription	Osteobl	bone
28	chr5:115234400-115258800	Weak transcription	Primary T cells from cord blood	blood
29	chr5:115234600-115249000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:115234600-115249200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:115234600-115249200	Weak transcription	HSMM	muscle
32	chr5:115234600-115250800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr5:115234800-115250800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:115234800-115252600	Weak transcription	GM12878-XiMat	blood
35	chr5:115234800-115253200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:115234800-115255000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr5:115234800-115255200	Weak transcription	Primary B cells from cord blood	blood
38	chr5:115234800-115255400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr5:115234800-115257800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:115235000-115243200	Weak transcription	Fetal Intestine Large	intestine
41	chr5:115235000-115245600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:115235000-115250400	Weak transcription	Left Ventricle	heart
43	chr5:115235000-115250600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr5:115235000-115251600	Weak transcription	HUVEC	blood vessel
45	chr5:115235000-115254200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:115235000-115257800	Weak transcription	NH-A	brain
47	chr5:115235200-115251000	Weak transcription	Fetal Muscle Leg	muscle
48	chr5:115236600-115246000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr5:115236600-115248800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:115236600-115251400	Weak transcription	Primary hematopoietic stem cells	blood

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