Variant report

Variant	rs3783526
Chromosome Location	chr2:113541807-113541808
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113541166..113543599-chr2:113589793..113591896,2	K562	blood:
2	chr2:113541337..113542159-chr2:113642244..113642798,2	K562	blood:
3	chr2:113519458..113523816-chr2:113539890..113544534,4	K562	blood:
4	chr2:113539358..113542120-chr2:113573802..113575893,2	K562	blood:
5	chr2:113403522..113405036-chr2:113540751..113543227,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144136	Chromatin interaction
ENSG00000125538	Chromatin interaction
ENSG00000169607	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10165537	0.81[CHB][hapmap]
rs10167914	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10193063	0.81[CHB][hapmap]
rs10200192	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs10496444	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10496445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11676014	0.92[ASN][1000 genomes]
rs11687624	0.95[ASN][1000 genomes]
rs12471565	0.95[CEU][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12478842	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12612788	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12622683	0.81[CHB][hapmap]
rs12711741	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13000462	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13008855	1.00[YRI][hapmap]
rs13009294	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13013602	0.81[CHB][hapmap]
rs13015273	0.90[CHB][hapmap]
rs13016817	0.90[CHB][hapmap]
rs13019249	0.84[CHB][hapmap];1.00[YRI][hapmap]
rs13026263	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs13027814	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1533463	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1609682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17649681	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs1969294	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071376	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856838	0.81[CHB][hapmap]
rs3783512	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783513	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783515	0.81[CHB][hapmap]
rs3783516	0.81[CHB][hapmap]
rs3783521	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783533	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783543	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783546	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811040	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs4402765	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4848298	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs4848301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4848302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4849115	1.00[YRI][hapmap]
rs6542095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6712572	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs6721044	0.81[CHB][hapmap]
rs6746923	0.81[CHB][hapmap]
rs6753803	0.81[CHB][hapmap]
rs7369378	0.92[ASN][1000 genomes]
rs74182856	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7567619	0.95[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap]
rs7577241	0.81[CHB][hapmap]
rs908551	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113534000-113551800	Weak transcription	Fetal Heart	heart
2	chr2:113538800-113542000	Transcr. at gene 5' and 3'	NHEK	skin
3	chr2:113540200-113542400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr2:113540200-113543800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:113540800-113543000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:113541000-113542000	Weak transcription	Brain Substantia Nigra	brain
7	chr2:113541000-113542200	Enhancers	Primary hematopoietic stem cells	blood
8	chr2:113541000-113542400	Flanking Active TSS	Hela-S3	cervix
9	chr2:113541000-113543200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:113541000-113543800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:113541200-113542200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:113541200-113542200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr2:113541200-113542200	Active TSS	GM12878-XiMat	blood
14	chr2:113541200-113543000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:113541400-113542200	Flanking Active TSS	NH-A	brain
16	chr2:113541400-113542400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:113541400-113542400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:113541400-113542400	Flanking Active TSS	HUVEC	blood vessel
19	chr2:113541400-113542600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:113541600-113542000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:113541600-113542000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr2:113541600-113542000	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr2:113541600-113542000	Enhancers	Primary B cells from cord blood	blood
24	chr2:113541600-113542000	Enhancers	Adipose Nuclei	Adipose
25	chr2:113541600-113542000	Enhancers	Fetal Intestine Small	intestine
26	chr2:113541600-113542000	Enhancers	NHDF-Ad	bronchial
27	chr2:113541600-113542200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:113541600-113542200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:113541600-113542200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:113541600-113542400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr2:113541600-113542400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:113541600-113542400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:113541600-113542400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr2:113541600-113542600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr2:113541800-113542000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr2:113541800-113542000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr2:113541800-113542000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:113541800-113542000	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr2:113541800-113542200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:113541800-113542200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:113541800-113542200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:113541800-113542200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:113541800-113542200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr2:113541800-113542200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:113541800-113542200	Active TSS	Brain Angular Gyrus	brain
46	chr2:113541800-113542200	Active TSS	Brain Cingulate Gyrus	brain
47	chr2:113541800-113542200	Enhancers	Fetal Lung	lung
48	chr2:113541800-113542200	Enhancers	Stomach Mucosa	stomach
49	chr2:113541800-113542200	Flanking Active TSS	A549	lung
50	chr2:113541800-113542200	Flanking Active TSS	HMEC	breast

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