Variant report

Variant	rs3731532
Chromosome Location	chr3:48212185-48212186
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	chr10:87843638..87845952-chr3:48211779..48213886,2	K562	blood:
2	chr3:48190234..48191870-chr3:48211893..48213869,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11130161	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.95[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12633518	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1380053	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1459247	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17079910	0.80[CHB][hapmap]
rs1870441	1.00[YRI][hapmap]
rs3731539	1.00[ASW][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs3731547	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs57994790	0.81[AMR][1000 genomes]
rs58582477	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60305502	0.84[EUR][1000 genomes]
rs6442101	0.91[YRI][hapmap]
rs6803741	1.00[YRI][hapmap]
rs73831561	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73831563	0.84[EUR][1000 genomes]
rs876597	0.82[ASW][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap]
rs9825114	1.00[YRI][hapmap]
rs986742	0.82[ASW][hapmap];1.00[YRI][hapmap]
rs9917799	0.83[AFR][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	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1001056	chr3:47912342-48223849	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1004557	chr3:48056534-48256694	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv1012024	chr3:48119229-48242670	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv834682	chr3:48138137-48311122	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3731532	ZNF589	cis	multi-tissue	Pritchard

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48193000-48228400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr3:48193600-48228200	Weak transcription	Pancreas	Pancrea
3	chr3:48193800-48228400	Weak transcription	Adipose Nuclei	Adipose
4	chr3:48193800-48228600	Weak transcription	Brain Substantia Nigra	brain
5	chr3:48193800-48228800	Weak transcription	Brain Angular Gyrus	brain
6	chr3:48194000-48215600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:48194000-48217000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:48194000-48217600	Weak transcription	Right Atrium	heart
9	chr3:48194000-48228400	Weak transcription	Right Ventricle	heart
10	chr3:48194000-48228800	Weak transcription	Left Ventricle	heart
11	chr3:48195600-48226200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr3:48197600-48227200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:48197800-48227600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr3:48198000-48212200	Strong transcription	Thymus	Thymus
15	chr3:48198400-48220200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:48198400-48222000	Strong transcription	Dnd41	blood
17	chr3:48198400-48227600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:48198400-48227800	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr3:48198400-48228000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr3:48198400-48228000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr3:48198400-48228200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:48198400-48228200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr3:48198800-48212200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
24	chr3:48199000-48218600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:48199000-48227600	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:48199200-48219400	Strong transcription	Fetal Stomach	stomach
27	chr3:48199200-48227800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr3:48199400-48223000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr3:48199600-48219400	Strong transcription	Fetal Intestine Small	intestine
30	chr3:48199600-48227000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:48199800-48212400	Strong transcription	Fetal Muscle Leg	muscle
32	chr3:48199800-48228000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:48200000-48226400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr3:48200000-48227600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr3:48200200-48227800	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr3:48200400-48226600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:48203400-48228200	Weak transcription	Colonic Mucosa	Colon
38	chr3:48203600-48212400	Strong transcription	Fetal Intestine Large	intestine
39	chr3:48204400-48228400	Weak transcription	Fetal Brain Male	brain
40	chr3:48205000-48212200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr3:48205000-48212200	Strong transcription	GM12878-XiMat	blood
42	chr3:48205000-48212200	Strong transcription	Osteobl	bone
43	chr3:48205000-48212400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr3:48205000-48212400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:48205000-48226400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:48205000-48227600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:48205200-48212200	Strong transcription	Hela-S3	cervix
48	chr3:48205200-48212400	Strong transcription	NHEK	skin
49	chr3:48205200-48228400	Weak transcription	Primary B cells from cord blood	blood
50	chr3:48205400-48227200	Strong transcription	HMEC	breast

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