Variant report

Variant	rs3732555
Chromosome Location	chr3:105375746-105375747
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10460778	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10933830	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.83[LWK][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12489983	0.88[CEU][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1443103	0.87[EUR][1000 genomes]
rs1550712	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2053626	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3821489	1.00[CEU][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58631873	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62263054	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62263055	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62264292	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6764799	1.00[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6782206	0.88[CEU][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs73854382	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][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	nsv525071	chr3:105004853-105409321	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv534224	chr3:105141696-105404293	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv829651	chr3:105203424-105402136	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv877306	chr3:105372196-105495841	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv877307	chr3:105373836-105465189	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv591242	chr3:105373836-105470134	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv877308	chr3:105373836-105495841	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv877309	chr3:105373836-105542435	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3732555	CBLB	cis	cerebellum	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105366000-105377200	Weak transcription	NHDF-Ad	bronchial
2	chr3:105367400-105377600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:105368600-105376800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:105368800-105376800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:105368800-105377600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:105368800-105388400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:105368800-105393400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:105369200-105375800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:105369600-105375800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr3:105371400-105377400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:105371400-105382200	Weak transcription	Lung	lung
12	chr3:105371800-105377200	Weak transcription	Fetal Stomach	stomach
13	chr3:105372000-105381800	Weak transcription	Pancreas	Pancrea
14	chr3:105372200-105376000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr3:105372200-105377000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr3:105372200-105380800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr3:105372200-105387400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr3:105372400-105376000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:105372400-105376400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr3:105372400-105388000	Weak transcription	Stomach Mucosa	stomach
21	chr3:105373000-105377200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:105373000-105377600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:105373000-105381800	Weak transcription	Right Ventricle	heart
24	chr3:105373000-105387800	Weak transcription	Gastric	stomach
25	chr3:105373000-105419600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:105373200-105376400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr3:105373400-105376200	Weak transcription	Primary B cells from cord blood	blood
28	chr3:105373400-105376600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:105373400-105376600	Weak transcription	Placenta	Placenta
30	chr3:105373400-105401600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr3:105373600-105419600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:105373800-105375800	Weak transcription	Fetal Lung	lung
33	chr3:105373800-105406200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:105374200-105375800	Weak transcription	Primary T cells from cord blood	blood
35	chr3:105374200-105375800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr3:105374200-105375800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr3:105374200-105375800	Weak transcription	Fetal Muscle Leg	muscle
38	chr3:105374200-105376600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr3:105374200-105388400	Weak transcription	Brain Hippocampus Middle	brain
40	chr3:105374200-105392600	Weak transcription	Psoas Muscle	Psoas
41	chr3:105374400-105376000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:105374400-105376000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr3:105374400-105376600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr3:105374400-105377000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr3:105374400-105377000	Weak transcription	Fetal Kidney	kidney
46	chr3:105374400-105388000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr3:105374600-105375800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:105374600-105376200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr3:105374600-105376800	Weak transcription	Brain Germinal Matrix	brain
50	chr3:105374600-105377000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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