Variant report

Variant	rs73323945
Chromosome Location	chr8:118965022-118965023
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:12)

rs_ID	r²[population]
rs17453427	1.00[AFR][1000 genomes]
rs56844743	0.83[AFR][1000 genomes]
rs57399568	1.00[AFR][1000 genomes]
rs60553718	0.83[AFR][1000 genomes]
rs61016956	1.00[AFR][1000 genomes]
rs73323905	0.83[AFR][1000 genomes]
rs73323906	0.83[AFR][1000 genomes]
rs73323916	1.00[AFR][1000 genomes]
rs73323935	1.00[AFR][1000 genomes]
rs73323942	1.00[AFR][1000 genomes]
rs73323948	1.00[AFR][1000 genomes]
rs73323954	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118956600-118968000	Weak transcription	Placenta	Placenta
2	chr8:118959000-118966400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:118959000-118967800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:118959000-118967800	Weak transcription	Lung	lung
5	chr8:118959000-118968000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:118959200-118968000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:118959400-118968400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:118959400-118968800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr8:118959600-118968400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:118959800-118965600	Weak transcription	Left Ventricle	heart
11	chr8:118959800-118968400	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:118960000-118965400	Weak transcription	Adipose Nuclei	Adipose
13	chr8:118960200-118966200	Enhancers	Liver	Liver
14	chr8:118960200-118967200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:118960600-118965200	Enhancers	HepG2	liver
16	chr8:118960600-118969200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:118960600-118971200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:118960800-118965600	Weak transcription	Right Ventricle	heart
19	chr8:118960800-118966600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:118961000-118965800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr8:118961000-118966600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:118961200-118966600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr8:118961200-118969200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:118961400-118966000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:118961400-118967600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr8:118961400-118969000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:118962400-118965600	Weak transcription	Gastric	stomach
28	chr8:118962400-118966000	Enhancers	A549	lung
29	chr8:118962400-118967200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:118962600-118965600	Weak transcription	Right Atrium	heart
31	chr8:118962600-118965800	Weak transcription	Psoas Muscle	Psoas
32	chr8:118962800-118965600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:118962800-118966400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:118962800-118969200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:118963000-118965400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:118963000-118967200	Weak transcription	Fetal Heart	heart
37	chr8:118963000-118967800	Weak transcription	Small Intestine	intestine
38	chr8:118963000-118968000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr8:118963200-118965800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:118963200-118965800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:118963400-118965400	Genic enhancers	Osteobl	bone
42	chr8:118963600-118965600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:118963600-118966000	Enhancers	NHEK	skin
44	chr8:118963800-118968600	Weak transcription	Stomach Mucosa	stomach
45	chr8:118964000-118966400	Weak transcription	Aorta	Aorta
46	chr8:118964000-118968200	Weak transcription	Fetal Intestine Large	intestine
47	chr8:118964000-118968400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr8:118964200-118967000	Weak transcription	HMEC	breast
49	chr8:118964200-118967000	Weak transcription	NH-A	brain
50	chr8:118964200-118967800	Weak transcription	HSMMtube	muscle

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