Variant report

Variant	rs73418919
Chromosome Location	chr9:18447451-18447452
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10120111	1.00[AMR][1000 genomes]
rs10125046	1.00[AMR][1000 genomes]
rs10963610	1.00[AMR][1000 genomes]
rs10963611	1.00[AMR][1000 genomes]
rs10963612	1.00[AMR][1000 genomes]
rs12344691	1.00[AMR][1000 genomes]
rs12345456	1.00[AMR][1000 genomes]
rs12349955	1.00[AMR][1000 genomes]
rs12353438	1.00[AMR][1000 genomes]
rs1576896	1.00[AMR][1000 genomes]
rs16936735	1.00[AMR][1000 genomes]
rs28391853	1.00[AMR][1000 genomes]
rs28408411	1.00[AMR][1000 genomes]
rs28489992	1.00[AMR][1000 genomes]
rs7020916	1.00[AMR][1000 genomes]
rs73417008	1.00[AMR][1000 genomes]
rs73417095	1.00[AMR][1000 genomes]
rs73421026	1.00[AMR][1000 genomes]
rs73429660	1.00[AMR][1000 genomes]
rs73431002	1.00[AMR][1000 genomes]
rs73433514	1.00[AMR][1000 genomes]
rs7859309	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831522	chr9:18231982-18459492	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv892688	chr9:18385143-18551247	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1029449	chr9:18414752-18829127	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv540077	chr9:18414752-18829127	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18439200-18447600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr9:18443000-18447600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:18443200-18457400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:18446000-18448400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr9:18446400-18448400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:18446400-18448800	Enhancers	Liver	Liver
7	chr9:18446600-18447600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:18446600-18448000	Enhancers	Brain Anterior Caudate	brain
9	chr9:18446600-18448000	Enhancers	Ovary	ovary
10	chr9:18446600-18448000	Enhancers	Rectal Smooth Muscle	rectum
11	chr9:18446600-18448600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr9:18446600-18448600	Enhancers	Colon Smooth Muscle	Colon
13	chr9:18446600-18448600	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr9:18446800-18447600	Enhancers	NHEK	skin
15	chr9:18446800-18448400	Enhancers	Adipose Nuclei	Adipose
16	chr9:18446800-18448400	Enhancers	NHLF	lung
17	chr9:18447000-18447600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr9:18447000-18447800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:18447000-18447800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:18447000-18448400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr9:18447000-18448400	Enhancers	Fetal Stomach	stomach
22	chr9:18447200-18447600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:18447200-18447600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr9:18447200-18447600	Enhancers	HMEC	breast
25	chr9:18447200-18447600	Enhancers	NH-A	brain
26	chr9:18447200-18447600	Flanking Active TSS	NHDF-Ad	bronchial
27	chr9:18447200-18447800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:18447200-18447800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr9:18447200-18447800	Active TSS	Aorta	Aorta
30	chr9:18447200-18447800	Enhancers	Fetal Lung	lung
31	chr9:18447200-18447800	Enhancers	Lung	lung
32	chr9:18447200-18447800	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr9:18447200-18448000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr9:18447200-18448000	Enhancers	Fetal Muscle Leg	muscle
35	chr9:18447200-18448400	Enhancers	Fetal Heart	heart
36	chr9:18447200-18448400	Enhancers	Left Ventricle	heart
37	chr9:18447200-18448600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr9:18447200-18448600	Enhancers	Brain Hippocampus Middle	brain
39	chr9:18447400-18447800	Enhancers	Right Atrium	heart
40	chr9:18447400-18448000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:18447400-18448000	Enhancers	Osteobl	bone
42	chr9:18447400-18448400	Enhancers	Brain Germinal Matrix	brain
43	chr9:18447400-18448400	Enhancers	Psoas Muscle	Psoas
44	chr9:18447400-18451800	Weak transcription	Esophagus	oesophagus

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