Variant report

Variant	rs726444
Chromosome Location	chr3:105438538-105438539
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	chr3:105438428..105441312-chr3:105441392..105443154,2	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1042852	0.83[AMR][1000 genomes]
rs10490830	0.92[CHB][hapmap];0.92[ASN][1000 genomes]
rs11706886	0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11713094	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11915926	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11929289	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12493181	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12493560	1.00[CEU][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12695122	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12695123	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs13059405	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs13061160	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13062734	0.92[CHB][hapmap];0.84[ASN][1000 genomes]
rs13064310	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13065142	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13070917	0.85[CHB][hapmap]
rs13073784	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs13082334	0.85[CHB][hapmap];0.92[ASN][1000 genomes]
rs13083716	0.83[AMR][1000 genomes]
rs13084260	0.83[AMR][1000 genomes]
rs13093260	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13315174	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13317635	0.90[CEU][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1443105	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1443106	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1443108	0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1530420	0.86[AMR][1000 genomes]
rs1545304	0.95[CEU][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17202348	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1867189	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1867190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2083758	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2083761	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2120585	0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2244737	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2284993	0.86[AMR][1000 genomes]
rs2301029	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301030	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2301032	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2301037	1.00[CEU][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2301040	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2301041	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2301043	1.00[CEU][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2301050	0.84[AMR][1000 genomes]
rs2301051	0.83[AMR][1000 genomes]
rs2305035	0.95[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2305036	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2305037	0.88[AMR][1000 genomes]
rs2399054	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2399055	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28532512	0.83[AMR][1000 genomes]
rs34520191	0.86[AMR][1000 genomes]
rs34896116	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs35748894	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35834008	0.86[AMR][1000 genomes]
rs3772513	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3772515	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs3772521	0.93[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3772526	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs3772527	0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs3772531	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs3772536	0.90[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3772537	0.90[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3821488	0.81[CHB][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4321559	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4627779	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6437611	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6437614	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6773661	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6796643	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7615317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7619647	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7624530	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7646445	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7649520	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7652702	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs894937	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9288815	1.00[CEU][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9657914	0.81[AMR][1000 genomes]
rs9657915	0.83[AMR][1000 genomes]
rs9816486	0.84[AMR][1000 genomes]
rs9821956	0.91[CEU][hapmap]
rs9840891	0.90[CEU][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9859953	0.90[CEU][hapmap]
rs9860539	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9870097	0.92[CHB][hapmap];0.84[JPT][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs9872897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9873552	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9876767	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs9877805	0.90[CEU][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9878058	0.89[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9880861	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs9883858	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs999046	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][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	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
2	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
3	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
4	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
5	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
6	esv2755185	chr3:105378310-105597310	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv877310	chr3:105409321-105495841	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv591243	chr3:105438320-105470134	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv591244	chr3:105438320-105495841	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs726444	CBLB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105375800-105464600	Weak transcription	Small Intestine	intestine
2	chr3:105376800-105440000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:105378000-105455400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:105378600-105438600	Weak transcription	Spleen	Spleen
5	chr3:105379200-105440400	Weak transcription	Thymus	Thymus
6	chr3:105389200-105467200	Weak transcription	Stomach Mucosa	stomach
7	chr3:105394200-105438800	Weak transcription	NHEK	skin
8	chr3:105407800-105457800	Weak transcription	HepG2	liver
9	chr3:105408400-105440400	Weak transcription	A549	lung
10	chr3:105409000-105441600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr3:105412400-105441600	Weak transcription	Brain Substantia Nigra	brain
12	chr3:105417400-105443400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:105419200-105439200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:105420800-105445600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:105421200-105438800	Weak transcription	Esophagus	oesophagus
16	chr3:105421200-105441800	Weak transcription	Brain Hippocampus Middle	brain
17	chr3:105421200-105465400	Weak transcription	Colonic Mucosa	Colon
18	chr3:105421400-105443000	Weak transcription	Fetal Intestine Small	intestine
19	chr3:105422000-105441400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr3:105423200-105438600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:105425400-105442400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:105429800-105441200	Strong transcription	Osteobl	bone
23	chr3:105430600-105440200	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr3:105430800-105439000	Strong transcription	Primary B cells from cord blood	blood
25	chr3:105431200-105439000	Strong transcription	Fetal Lung	lung
26	chr3:105431200-105439200	Strong transcription	Placenta	Placenta
27	chr3:105431600-105439600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr3:105432000-105439400	Strong transcription	Primary T cells from cord blood	blood
29	chr3:105432000-105439400	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr3:105432000-105439800	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr3:105432200-105439000	Strong transcription	HSMM	muscle
32	chr3:105432200-105439200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr3:105432200-105441600	Strong transcription	Left Ventricle	heart
34	chr3:105432400-105439000	Strong transcription	Duodenum Mucosa	Duodenum
35	chr3:105432400-105439200	Strong transcription	Adipose Nuclei	Adipose
36	chr3:105432400-105439200	Strong transcription	Fetal Intestine Large	intestine
37	chr3:105432400-105439400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr3:105432800-105463800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr3:105433600-105438800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:105433600-105465600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr3:105433800-105445400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:105434400-105446600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr3:105434800-105463800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:105435000-105439000	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:105435000-105439200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr3:105435000-105439200	Strong transcription	NHDF-Ad	bronchial
47	chr3:105435000-105440400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:105435400-105440400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:105435400-105440600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr3:105435600-105439200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood

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