Variant report

Variant	rs74116406
Chromosome Location	chr1:155614857-155614858
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12066633	1.00[AMR][1000 genomes]
rs12070752	1.00[AMR][1000 genomes]
rs12072627	1.00[AMR][1000 genomes]
rs12097744	1.00[AMR][1000 genomes]
rs16836999	1.00[AMR][1000 genomes]
rs372780	1.00[AMR][1000 genomes]
rs6669502	1.00[AMR][1000 genomes]
rs6692929	0.85[AFR][1000 genomes]
rs6694257	1.00[AMR][1000 genomes]
rs7520381	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv3431739	chr1:155514331-155664183	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv3388968	chr1:155532335-155658278	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv436522	chr1:155559513-155674249	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv946419	chr1:155561148-155630744	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	esv3360339	chr1:155562157-155683127	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	nsv547965	chr1:155563152-155688600	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS 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	41 gene(s)	inside rSNPs	diseases
11	esv3381327	chr1:155582853-155718436	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155605000-155618000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:155607400-155621200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:155612400-155615000	Weak transcription	Brain Angular Gyrus	brain
4	chr1:155613200-155617400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:155613600-155615200	Weak transcription	HSMM	muscle
6	chr1:155613800-155615400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr1:155614000-155615000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:155614000-155621000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:155614200-155615000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:155614400-155615000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:155614600-155615200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:155614600-155615600	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr1:155614600-155615800	Enhancers	HepG2	liver
14	chr1:155614600-155617000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:155614800-155615000	Enhancers	HSMMtube	muscle
16	chr1:155614800-155615200	Enhancers	Aorta	Aorta
17	chr1:155614800-155615200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:155614800-155615200	Enhancers	Colon Smooth Muscle	Colon
19	chr1:155614800-155615400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:155614800-155615400	Enhancers	Right Ventricle	heart
21	chr1:155614800-155615400	Enhancers	HMEC	breast
22	chr1:155614800-155615600	Enhancers	Left Ventricle	heart
23	chr1:155614800-155615600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr1:155614800-155615600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr1:155614800-155615800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:155614800-155616000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:155614800-155616200	Enhancers	Rectal Smooth Muscle	rectum
28	chr1:155614800-155616400	Enhancers	Primary hematopoietic stem cells	blood
29	chr1:155614800-155616400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:155614800-155616400	Enhancers	Fetal Muscle Leg	muscle
31	chr1:155614800-155616400	Enhancers	Fetal Stomach	stomach
32	chr1:155614800-155616400	Enhancers	Hela-S3	cervix
33	chr1:155614800-155616600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:155614800-155616600	Enhancers	Brain Cingulate Gyrus	brain
35	chr1:155614800-155616600	Enhancers	Brain Substantia Nigra	brain
36	chr1:155614800-155616600	Enhancers	A549	lung
37	chr1:155614800-155616600	Enhancers	NHDF-Ad	bronchial
38	chr1:155614800-155616600	Enhancers	Osteobl	bone
39	chr1:155614800-155616800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:155614800-155616800	Enhancers	Adipose Nuclei	Adipose
41	chr1:155614800-155616800	Enhancers	NHLF	lung
42	chr1:155614800-155617000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:155614800-155617000	Enhancers	NHEK	skin
44	chr1:155614800-155617200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:155614800-155618000	Enhancers	NH-A	brain
46	chr1:155614800-155618800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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