Variant report

Variant	rs999046
Chromosome Location	chr3:105420265-105420266
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1042852	0.91[CEU][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10446294	0.86[AMR][1000 genomes]
rs10490830	0.92[CHB][hapmap];0.85[ASN][1000 genomes]
rs11706886	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11713094	0.87[AMR][1000 genomes]
rs11915926	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11929289	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12493181	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12493560	0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12695122	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12695123	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13059405	0.96[CEU][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13061160	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13062734	0.92[CHB][hapmap]
rs13064310	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13065142	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13070917	0.84[CHB][hapmap]
rs13073784	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs13082334	0.84[CHB][hapmap];0.85[ASN][1000 genomes]
rs13083716	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13084260	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13093260	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13315174	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13317635	0.87[AMR][1000 genomes]
rs1443105	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];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1443106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1443108	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1530420	0.91[CEU][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1545304	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17202230	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17202348	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1867189	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1867190	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2083758	0.96[CEU][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2083761	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2120585	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2244737	0.96[CEU][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2284993	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2301029	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2301030	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2301032	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2301037	0.84[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2301040	0.94[YRI][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2301041	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2301043	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2301050	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2301051	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2305035	0.87[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2305036	0.87[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2305037	1.00[CEU][hapmap];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2399054	0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2399055	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28532512	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34520191	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34896116	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35748894	0.87[AMR][1000 genomes]
rs35834008	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3732554	0.84[CHB][hapmap]
rs3772513	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3772515	0.91[CEU][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3772521	0.96[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3772526	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3772527	0.96[CEU][hapmap];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3772531	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3772536	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3772537	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3821488	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4321559	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4627779	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6437611	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6437614	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6773661	0.96[CEU][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6796643	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs726444	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]
rs7615317	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7619647	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7624530	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7646445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7649520	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7652702	0.89[YRI][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs894937	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9288815	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs9657914	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9657915	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9816486	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9840891	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9860539	0.87[AMR][1000 genomes]
rs9870097	0.91[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9872897	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9873552	0.84[AMR][1000 genomes]
rs9876767	0.96[CEU][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9877805	0.87[AMR][1000 genomes]
rs9878058	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9880861	0.96[CEU][hapmap];0.87[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9883858	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs999046	CBLB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 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	chr3:105376000-105438200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:105376800-105440000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:105378000-105420800	Weak transcription	HUVEC	blood vessel
5	chr3:105378000-105455400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:105378600-105438600	Weak transcription	Spleen	Spleen
7	chr3:105379000-105437400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:105379200-105440400	Weak transcription	Thymus	Thymus
9	chr3:105387200-105420800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr3:105388400-105421000	Weak transcription	Gastric	stomach
11	chr3:105389200-105467200	Weak transcription	Stomach Mucosa	stomach
12	chr3:105393600-105420800	Weak transcription	Colon Smooth Muscle	Colon
13	chr3:105394200-105438800	Weak transcription	NHEK	skin
14	chr3:105396000-105420800	Weak transcription	Brain Angular Gyrus	brain
15	chr3:105396000-105432600	Weak transcription	Pancreas	Pancrea
16	chr3:105396000-105437200	Weak transcription	Psoas Muscle	Psoas
17	chr3:105396000-105437400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr3:105396000-105438200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:105396000-105438400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr3:105396200-105430400	Weak transcription	Fetal Brain Male	brain
21	chr3:105400000-105437200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr3:105400200-105420600	Weak transcription	Brain Anterior Caudate	brain
23	chr3:105400600-105420800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr3:105401000-105432200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr3:105401600-105433800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr3:105403600-105420800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr3:105405200-105437200	Weak transcription	NHLF	lung
28	chr3:105405400-105420800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr3:105405800-105421000	Weak transcription	Aorta	Aorta
30	chr3:105406200-105420600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr3:105407800-105457800	Weak transcription	HepG2	liver
32	chr3:105408400-105440400	Weak transcription	A549	lung
33	chr3:105409000-105427400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:105409000-105441600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:105410800-105437600	Weak transcription	Fetal Heart	heart
36	chr3:105411600-105420800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr3:105412000-105434000	Weak transcription	HMEC	breast
38	chr3:105412200-105420800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr3:105412400-105420600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr3:105412400-105420800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr3:105412400-105420800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:105412400-105437200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr3:105412400-105441600	Weak transcription	Brain Substantia Nigra	brain
44	chr3:105412600-105420800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr3:105412600-105420800	Weak transcription	Ovary	ovary
46	chr3:105412600-105437400	Weak transcription	Dnd41	blood
47	chr3:105413200-105420800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr3:105415600-105428800	Weak transcription	GM12878-XiMat	blood
49	chr3:105415600-105438000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr3:105416600-105420600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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