Variant report

Variant	rs73780683
Chromosome Location	chr5:115251155-115251156
allele	C/G
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:28)

rs_ID	r²[population]
rs10036657	1.00[EUR][1000 genomes]
rs10052079	1.00[EUR][1000 genomes]
rs10054972	1.00[EUR][1000 genomes]
rs10058994	1.00[EUR][1000 genomes]
rs10059199	1.00[EUR][1000 genomes]
rs10067222	1.00[EUR][1000 genomes]
rs10070325	1.00[EUR][1000 genomes]
rs10074061	1.00[EUR][1000 genomes]
rs10074066	1.00[EUR][1000 genomes]
rs10075816	1.00[EUR][1000 genomes]
rs10478262	1.00[EUR][1000 genomes]
rs10519428	1.00[EUR][1000 genomes]
rs10519429	1.00[EUR][1000 genomes]
rs11959669	1.00[EUR][1000 genomes]
rs17138236	1.00[EUR][1000 genomes]
rs1968365	1.00[EUR][1000 genomes]
rs28420368	1.00[EUR][1000 genomes]
rs4920893	1.00[EUR][1000 genomes]
rs4921029	1.00[EUR][1000 genomes]
rs4921030	1.00[EUR][1000 genomes]
rs6861998	1.00[EUR][1000 genomes]
rs6872587	1.00[EUR][1000 genomes]
rs6875708	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73257802	1.00[EUR][1000 genomes]
rs73265480	1.00[EUR][1000 genomes]
rs73265491	1.00[EUR][1000 genomes]
rs9326975	1.00[EUR][1000 genomes]
rs9654524	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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

No data

Chromatin state (count:52 , 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	chr5:115207600-115253800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:115207600-115254600	Weak transcription	Fetal Kidney	kidney
5	chr5:115207800-115254000	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:115208000-115253400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:115218600-115253000	Weak transcription	Placenta	Placenta
8	chr5:115218800-115253600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr5:115219000-115252800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:115219200-115252800	Weak transcription	Pancreas	Pancrea
11	chr5:115219200-115253200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:115219400-115252600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:115219600-115256000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:115221400-115253800	Weak transcription	Fetal Stomach	stomach
15	chr5:115221400-115254400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:115222000-115252800	Weak transcription	Fetal Intestine Small	intestine
17	chr5:115225600-115253200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:115230200-115254000	Weak transcription	Ovary	ovary
19	chr5:115234400-115252200	Weak transcription	Osteobl	bone
20	chr5:115234400-115258800	Weak transcription	Primary T cells from cord blood	blood
21	chr5:115234800-115252600	Weak transcription	GM12878-XiMat	blood
22	chr5:115234800-115253200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:115234800-115255000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr5:115234800-115255200	Weak transcription	Primary B cells from cord blood	blood
25	chr5:115234800-115255400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr5:115234800-115257800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr5:115235000-115251600	Weak transcription	HUVEC	blood vessel
28	chr5:115235000-115254200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr5:115235000-115257800	Weak transcription	NH-A	brain
30	chr5:115236600-115251400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr5:115240800-115257800	Weak transcription	Fetal Heart	heart
32	chr5:115242800-115252600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:115246200-115252200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:115247800-115261200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr5:115248800-115252400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:115249000-115252600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:115249400-115252000	Weak transcription	Fetal Intestine Large	intestine
38	chr5:115249600-115251600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:115249600-115258400	Weak transcription	HSMMtube	muscle
40	chr5:115249800-115252600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:115249800-115258400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:115250200-115252400	Strong transcription	Liver	Liver
43	chr5:115250400-115251400	Strong transcription	Left Ventricle	heart
44	chr5:115250400-115251800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr5:115250600-115251800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr5:115250800-115251400	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr5:115250800-115251600	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr5:115250800-115251600	Strong transcription	Adipose Nuclei	Adipose
49	chr5:115250800-115253400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:115251000-115251800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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