Variant report

Variant	rs17202230
Chromosome Location	chr3:105373929-105373930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:105373222..105375120-chr3:105379511..105381347,2	K562	blood:
2	chr3:105373294..105375257-chr9:136126002..136127894,2	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1042852	0.91[CEU][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10446294	0.86[AMR][1000 genomes]
rs11706886	0.87[CEU][hapmap];0.81[CHB][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11713094	0.82[AMR][1000 genomes]
rs11915926	0.82[AMR][1000 genomes]
rs11929289	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12493181	0.83[AMR][1000 genomes]
rs12695123	0.83[AMR][1000 genomes]
rs13059405	0.91[CEU][hapmap];0.83[AMR][1000 genomes]
rs13065142	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13070917	0.84[ASN][1000 genomes]
rs13083716	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13084260	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13093260	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13315174	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13317635	0.82[AMR][1000 genomes]
rs1443105	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1443106	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1443108	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1530420	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1867189	0.86[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2083758	0.87[CEU][hapmap];0.83[AMR][1000 genomes]
rs2120585	0.96[CEU][hapmap];0.81[CHB][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2244737	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2284993	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2301029	0.81[CHB][hapmap]
rs2301050	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2301051	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2305037	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2399055	0.81[CHB][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28532512	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34520191	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34896116	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35748894	0.82[AMR][1000 genomes]
rs35834008	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3732554	0.81[ASN][1000 genomes]
rs3772513	0.86[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3772515	0.82[CEU][hapmap];0.83[AMR][1000 genomes]
rs3772521	0.87[CEU][hapmap];0.81[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3772526	0.86[AMR][1000 genomes]
rs3772527	0.87[CEU][hapmap];0.86[AMR][1000 genomes]
rs3772531	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3772536	0.81[CHB][hapmap];0.84[ASN][1000 genomes]
rs3772537	0.81[CHB][hapmap];0.85[ASN][1000 genomes]
rs3821488	0.82[AMR][1000 genomes]
rs4321559	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6437611	0.83[ASN][1000 genomes]
rs6773661	0.86[CEU][hapmap];0.83[AMR][1000 genomes]
rs6796643	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7619647	0.82[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7624530	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7646445	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7649520	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs894937	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9657914	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9657915	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9816486	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9860539	0.82[AMR][1000 genomes]
rs9870097	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9873552	0.84[AMR][1000 genomes]
rs9876767	0.87[CEU][hapmap];0.83[AMR][1000 genomes]
rs9877805	0.82[AMR][1000 genomes]
rs9878058	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9880861	0.86[CEU][hapmap];0.83[AMR][1000 genomes]
rs9883858	0.84[AMR][1000 genomes]
rs999046	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.87[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	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
rs17202230	CBLB	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105366000-105377200	Weak transcription	NHDF-Ad	bronchial
2	chr3:105366600-105375400	Weak transcription	NH-A	brain
3	chr3:105366800-105375200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:105366800-105375400	Weak transcription	Osteobl	bone
5	chr3:105367400-105377600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:105368600-105376800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:105368800-105376800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr3:105368800-105377600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr3:105368800-105388400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:105368800-105393400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:105369200-105375800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:105369400-105375600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:105369600-105375800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr3:105371000-105374800	Weak transcription	Fetal Heart	heart
15	chr3:105371400-105377400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:105371400-105382200	Weak transcription	Lung	lung
17	chr3:105371800-105377200	Weak transcription	Fetal Stomach	stomach
18	chr3:105372000-105381800	Weak transcription	Pancreas	Pancrea
19	chr3:105372200-105376000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr3:105372200-105377000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:105372200-105380800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr3:105372200-105387400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr3:105372400-105376000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:105372400-105376400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr3:105372400-105388000	Weak transcription	Stomach Mucosa	stomach
26	chr3:105372600-105374600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:105373000-105377200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:105373000-105377600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:105373000-105381800	Weak transcription	Right Ventricle	heart
30	chr3:105373000-105387800	Weak transcription	Gastric	stomach
31	chr3:105373000-105419600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:105373200-105376400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr3:105373400-105375600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:105373400-105376200	Weak transcription	Primary B cells from cord blood	blood
35	chr3:105373400-105376600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:105373400-105376600	Weak transcription	Placenta	Placenta
37	chr3:105373400-105401600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr3:105373600-105374800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:105373600-105419600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:105373800-105375800	Weak transcription	Fetal Lung	lung
41	chr3:105373800-105406200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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