Variant report

Variant	rs9833600
Chromosome Location	chr3:48649406-48649407
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1387005	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59643945	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs61368683	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6800132	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9839959	0.90[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9866124	0.89[ASW][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008232	chr3:48517121-48702416	Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv523981	chr3:48520289-48721040	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1004383	chr3:48543794-48649772	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv834685	chr3:48565009-48745774	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv876762	chr3:48591481-48731487	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv818138	chr3:48610925-48731487	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers 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 miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv590246	chr3:48628014-48721040	Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48647400-48649800	Weak transcription	Ovary	ovary
2	chr3:48647400-48649800	Weak transcription	NHLF	lung
3	chr3:48647400-48651000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:48647400-48651000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:48647400-48651000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr3:48647400-48651200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr3:48647400-48651200	Weak transcription	HUVEC	blood vessel
8	chr3:48647400-48651200	Weak transcription	NHDF-Ad	bronchial
9	chr3:48647400-48651200	Weak transcription	NHEK	skin
10	chr3:48647400-48651200	Weak transcription	Osteobl	bone
11	chr3:48647400-48651400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:48647400-48651400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:48647400-48651400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:48647400-48651400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:48647400-48653600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:48647400-48654600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:48647400-48654600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr3:48647400-48654800	Weak transcription	Gastric	stomach
19	chr3:48647600-48650400	Weak transcription	Placenta	Placenta
20	chr3:48647600-48651000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr3:48647600-48651200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:48647600-48651200	Weak transcription	HMEC	breast
23	chr3:48647600-48654600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:48647800-48651000	Weak transcription	Hela-S3	cervix
25	chr3:48648000-48649800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr3:48648200-48652600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:48648400-48649800	Weak transcription	K562	blood
28	chr3:48648400-48651200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:48648400-48651600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:48648400-48654600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:48648400-48661200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr3:48648600-48649800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:48648600-48651200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:48648600-48651400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr3:48648600-48652400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:48648600-48653400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:48648600-48653400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr3:48648600-48653400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr3:48648600-48654600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr3:48648600-48654600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr3:48648800-48653600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr3:48649000-48651600	Weak transcription	Dnd41	blood
43	chr3:48649000-48672000	Weak transcription	Fetal Brain Male	brain
44	chr3:48649200-48652600	Enhancers	HepG2	liver
45	chr3:48649400-48650400	Enhancers	Fetal Lung	lung
46	chr3:48649400-48650600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr3:48649400-48650800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links