Variant report

Variant	rs532411
Chromosome Location	chr3:121186422-121186423
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:121185562..121187444-chr3:121190250..121193182,2	K562	blood:
2	chr3:121185944..121189270-chr3:121190973..121193182,3	K562	blood:
3	chr3:121138259..121140292-chr3:121185745..121188174,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10212489	1.00[YRI][hapmap]
rs11914436	0.90[EUR][1000 genomes]
rs3218634	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3898024	0.93[EUR][1000 genomes]
rs4440066	0.91[EUR][1000 genomes]
rs482256	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs487848	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs494140	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs501099	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs507353	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs546930	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs552404	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs555890	0.86[ASW][hapmap];0.89[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56402221	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs604231	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs630138	0.94[AFR][1000 genomes]
rs650469	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs669277	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs697019	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs716688	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73183172	0.93[EUR][1000 genomes]
rs73191762	0.90[EUR][1000 genomes]
rs794323	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9289170	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9824168	0.93[EUR][1000 genomes]
rs9828736	0.93[EUR][1000 genomes]
rs9828910	0.90[EUR][1000 genomes]
rs9860047	0.90[EUR][1000 genomes]
rs9868609	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9878946	0.91[EUR][1000 genomes]
rs9883968	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998555	chr3:120700604-121348015	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv521397	chr3:120970900-121192350	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv829702	chr3:121045793-121227975	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv591400	chr3:121070299-121339354	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv999335	chr3:121100283-121408766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121148400-121199600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:121149400-121196600	Weak transcription	NH-A	brain
3	chr3:121149400-121199600	Weak transcription	Fetal Lung	lung
4	chr3:121151200-121193400	Weak transcription	HSMM	muscle
5	chr3:121151200-121263800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr3:121176200-121197000	Weak transcription	Fetal Kidney	kidney
7	chr3:121176400-121214800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr3:121176400-121224200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:121176800-121187600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:121177200-121237000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr3:121177400-121204000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr3:121177400-121205200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:121177800-121197000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr3:121177800-121214800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:121178000-121187600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:121178000-121196600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:121178000-121208600	Weak transcription	Fetal Heart	heart
18	chr3:121178200-121196600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr3:121178200-121263800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr3:121178400-121204800	Strong transcription	Dnd41	blood
21	chr3:121179000-121186600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:121180800-121187200	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr3:121181000-121219600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:121181400-121198400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr3:121181600-121197800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr3:121181600-121204000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr3:121181800-121192400	Strong transcription	A549	lung
28	chr3:121181800-121196400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:121182000-121186600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:121182000-121188400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:121183000-121196200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr3:121183000-121196600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:121183200-121200200	Weak transcription	Brain Germinal Matrix	brain
34	chr3:121183600-121187800	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr3:121183600-121197200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr3:121183800-121187400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:121183800-121234400	Weak transcription	Primary B cells from cord blood	blood
38	chr3:121184000-121186600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:121184000-121186800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr3:121184000-121187400	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr3:121184000-121187600	Strong transcription	Fetal Thymus	thymus
42	chr3:121184000-121187800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:121184000-121188000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:121184200-121187200	Strong transcription	HMEC	breast
45	chr3:121184400-121186600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:121184600-121187400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:121184800-121187600	Strong transcription	Primary hematopoietic stem cells	blood
48	chr3:121185000-121196000	Weak transcription	Osteobl	bone
49	chr3:121185200-121191800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr3:121185400-121187200	Strong transcription	HepG2	liver

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