Variant report

Variant	rs10982540
Chromosome Location	chr9:117874433-117874434
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10982521	0.87[EUR][1000 genomes]
rs10982541	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1513	0.91[EUR][1000 genomes]
rs2026154	1.00[ASN][1000 genomes]
rs55739619	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56120022	0.87[EUR][1000 genomes]
rs72760426	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72760428	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73555009	0.80[AFR][1000 genomes]
rs73555011	0.80[AFR][1000 genomes]
rs73555021	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv893768	chr9:117853103-117903975	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv831697	chr9:117860416-118023927	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117849400-117876200	Weak transcription	Aorta	Aorta
2	chr9:117849400-117877600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:117861600-117876000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:117861800-117874800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr9:117862600-117877200	Weak transcription	Fetal Kidney	kidney
6	chr9:117862600-117877200	Weak transcription	Fetal Stomach	stomach
7	chr9:117866400-117875000	Enhancers	Rectal Smooth Muscle	rectum
8	chr9:117869000-117876800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr9:117869000-117876800	Weak transcription	HSMM	muscle
10	chr9:117869200-117878400	Weak transcription	Fetal Lung	lung
11	chr9:117870200-117876000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr9:117870200-117876600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
13	chr9:117870400-117876600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:117870400-117876600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr9:117870400-117879000	Weak transcription	Esophagus	oesophagus
16	chr9:117870800-117875400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:117871200-117875000	Weak transcription	NHLF	lung
18	chr9:117872000-117876600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:117872200-117875000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr9:117872200-117876400	Weak transcription	HMEC	breast
21	chr9:117872800-117874800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:117873000-117875000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr9:117873400-117875200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:117873400-117875600	Strong transcription	Osteobl	bone
25	chr9:117873800-117875400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:117873800-117875400	Genic enhancers	Colon Smooth Muscle	Colon
27	chr9:117873800-117875800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:117873800-117876200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr9:117874000-117875400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:117874000-117876400	Strong transcription	NHEK	skin
31	chr9:117874000-117876600	Strong transcription	Stomach Smooth Muscle	stomach
32	chr9:117874000-117876800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr9:117874000-117876800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr9:117874000-117877000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr9:117874200-117874600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr9:117874200-117875800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr9:117874400-117874600	Genic enhancers	NH-A	brain
38	chr9:117874400-117876200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:117874400-117876800	Strong transcription	NHDF-Ad	bronchial

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