Variant report

Variant	rs10982495
Chromosome Location	chr9:117780675-117780676
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:117779697..117782245-chr9:117783461..117785419,2	K562	blood:
2	chr9:117779444..117782245-chr9:117782697..117785419,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10122770	0.87[EUR][1000 genomes]
rs10817703	1.00[GIH][hapmap];0.91[EUR][1000 genomes]
rs10817704	1.00[GIH][hapmap];0.87[EUR][1000 genomes]
rs10982490	0.86[AMR][1000 genomes]
rs10982498	1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10982499	1.00[GIH][hapmap];0.83[LWK][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10982505	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12156603	0.81[EUR][1000 genomes]
rs12156617	0.81[EUR][1000 genomes]
rs1330362	0.81[EUR][1000 genomes]
rs7035652	0.81[EUR][1000 genomes]
rs73551038	0.81[EUR][1000 genomes]
rs73551051	0.81[AFR][1000 genomes]
rs73551065	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553151	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831696	chr9:117701582-117874150	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117771200-117783000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:117771400-117784600	Weak transcription	HMEC	breast
3	chr9:117773400-117803200	Weak transcription	Esophagus	oesophagus
4	chr9:117773600-117787200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr9:117774800-117783200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:117775000-117782200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:117776400-117784400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr9:117776400-117786000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr9:117776800-117791600	Weak transcription	Fetal Lung	lung
10	chr9:117777000-117783200	Weak transcription	Fetal Muscle Leg	muscle
11	chr9:117777600-117782200	Enhancers	Rectal Smooth Muscle	rectum
12	chr9:117778000-117783200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr9:117778400-117782200	Enhancers	Colon Smooth Muscle	Colon
14	chr9:117778600-117781800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr9:117778800-117783200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:117779000-117783400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:117779200-117782600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:117779800-117781800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr9:117779800-117781800	Enhancers	Aorta	Aorta
20	chr9:117779800-117783200	Weak transcription	NHEK	skin
21	chr9:117779800-117787600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:117780000-117780800	Enhancers	Osteobl	bone
23	chr9:117780200-117781800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr9:117780200-117781800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr9:117780200-117781800	Enhancers	NHDF-Ad	bronchial
26	chr9:117780200-117782000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr9:117780200-117782200	Enhancers	NHLF	lung
28	chr9:117780400-117781000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr9:117780400-117781200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:117780400-117781200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr9:117780400-117781800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr9:117780400-117781800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:117780400-117781800	Enhancers	Fetal Intestine Large	intestine
34	chr9:117780400-117782000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr9:117780600-117781000	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr9:117780600-117781600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:117780600-117781600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr9:117780600-117781600	Enhancers	HSMM	muscle
39	chr9:117780600-117781800	Enhancers	Fetal Intestine Small	intestine
40	chr9:117780600-117781800	Enhancers	Fetal Stomach	stomach
41	chr9:117780600-117781800	Enhancers	HSMMtube	muscle
42	chr9:117780600-117781800	Enhancers	NH-A	brain

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