Variant report

Variant	rs55869122
Chromosome Location	chr3:120510709-120510710
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11708525	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11708642	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11712360	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11713594	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11714216	0.80[ASN][1000 genomes]
rs11718363	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11719207	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11719896	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11720353	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17183618	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17184204	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17243218	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17243933	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2229308	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2292170	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2877413	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34319994	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34565470	0.80[ASN][1000 genomes]
rs41365345	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55663109	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55697401	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56140323	0.83[ASN][1000 genomes]
rs6438590	0.80[ASN][1000 genomes]
rs6769985	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6779005	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73183728	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73183730	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7637037	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7647895	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][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	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers 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	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv916869	chr3:120360281-120973169	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers 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	22 gene(s)	inside rSNPs	diseases
5	nsv877378	chr3:120381530-120606438	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1005396	chr3:120460741-120580319	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv829700	chr3:120469191-120675763	Strong transcription Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1012541	chr3:120482402-120580319	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv1014477	chr3:120482402-120583166	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120482200-120517600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:120483400-120521200	Weak transcription	Fetal Heart	heart
3	chr3:120491600-120511000	Weak transcription	HMEC	breast
4	chr3:120494400-120511000	Weak transcription	K562	blood
5	chr3:120499200-120515400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:120499600-120511000	Weak transcription	Hela-S3	cervix
7	chr3:120500200-120511000	Weak transcription	NHLF	lung
8	chr3:120500400-120511000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:120500400-120511000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:120500600-120510800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr3:120500600-120510800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:120500600-120511000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:120500600-120511600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:120500600-120513000	Weak transcription	HepG2	liver
15	chr3:120501000-120513600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:120501200-120511000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr3:120501400-120510800	Weak transcription	HSMM	muscle
18	chr3:120501400-120511000	Weak transcription	NHEK	skin
19	chr3:120501400-120513800	Weak transcription	A549	lung
20	chr3:120501400-120514400	Weak transcription	Fetal Intestine Large	intestine
21	chr3:120501600-120511400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:120501600-120513800	Weak transcription	Liver	Liver
23	chr3:120501800-120510800	Weak transcription	Osteobl	bone
24	chr3:120501800-120511000	Weak transcription	HSMMtube	muscle
25	chr3:120502200-120512000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:120502800-120510800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr3:120503400-120511000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr3:120505200-120510800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:120505400-120510800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:120505400-120510800	Weak transcription	NH-A	brain
31	chr3:120505600-120511000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:120509200-120514400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr3:120509800-120514000	Enhancers	HUVEC	blood vessel
34	chr3:120510200-120511400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr3:120510400-120510800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr3:120510600-120511200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr3:120510600-120511600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:120510600-120512000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:120510600-120512600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr3:120510600-120512800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:120510600-120512800	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links