Variant report

Variant	rs2301032
Chromosome Location	chr3:105469068-105469069
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10490830	0.88[ASN][1000 genomes]
rs11706886	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11713094	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11915926	0.87[AMR][1000 genomes]
rs11929289	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12493181	0.88[AMR][1000 genomes]
rs12493560	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12695122	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12695123	0.88[AMR][1000 genomes]
rs13059405	0.88[AMR][1000 genomes]
rs13061160	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13062734	0.87[ASN][1000 genomes]
rs13064310	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13065142	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13073784	0.84[ASN][1000 genomes]
rs13082334	0.88[ASN][1000 genomes]
rs13093260	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13315174	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13317635	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1443105	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1443106	0.84[AMR][1000 genomes]
rs1443108	0.84[AMR][1000 genomes]
rs1530420	0.81[AMR][1000 genomes]
rs1545304	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17202348	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1867189	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1867190	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2083758	0.88[AMR][1000 genomes]
rs2083761	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2120585	0.81[AMR][1000 genomes]
rs2244737	0.81[AMR][1000 genomes]
rs2284993	0.81[AMR][1000 genomes]
rs2301029	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2301030	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2301037	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2301040	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2301041	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2301043	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2301051	0.83[AMR][1000 genomes]
rs2305035	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2305036	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2305037	0.83[AMR][1000 genomes]
rs2399054	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2399055	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs34520191	0.81[AMR][1000 genomes]
rs34896116	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs35748894	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35834008	0.81[AMR][1000 genomes]
rs3772513	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3772515	0.88[AMR][1000 genomes]
rs3772521	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3772526	0.86[AMR][1000 genomes]
rs3772527	0.86[AMR][1000 genomes]
rs3772531	0.86[AMR][1000 genomes]
rs3772536	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3772537	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3821488	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4321559	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4627779	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6437611	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6437614	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6773661	0.88[AMR][1000 genomes]
rs6796643	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs726444	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7615317	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7619647	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7624530	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7646445	0.84[AMR][1000 genomes]
rs7649520	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7652702	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs894937	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9288815	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9840891	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9860539	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9870097	0.83[AMR][1000 genomes]
rs9872897	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9873552	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9876767	0.88[AMR][1000 genomes]
rs9877805	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9878058	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9880861	0.88[AMR][1000 genomes]
rs9883858	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs999046	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv591245	chr3:105438806-105469882	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv591246	chr3:105439522-105504129	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv877311	chr3:105449986-105493286	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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
rs2301032	CBLB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105439000-105471200	Weak transcription	Fetal Thymus	thymus
2	chr3:105439000-105471400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:105439000-105471400	Weak transcription	HMEC	breast
4	chr3:105439000-105471600	Weak transcription	Fetal Brain Male	brain
5	chr3:105439000-105475800	Weak transcription	Esophagus	oesophagus
6	chr3:105439000-105477400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:105439000-105477400	Weak transcription	Lung	lung
8	chr3:105439000-105477400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:105439200-105477200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr3:105446600-105477600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:105452400-105477400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:105452800-105477400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:105458000-105475600	Weak transcription	Pancreas	Pancrea
14	chr3:105460200-105471600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:105462000-105470200	Weak transcription	Dnd41	blood
16	chr3:105463200-105471400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr3:105463400-105470800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:105464200-105471000	Enhancers	Primary T cells from cord blood	blood
19	chr3:105464200-105477400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr3:105464200-105478200	Weak transcription	Right Atrium	heart
21	chr3:105464400-105477400	Weak transcription	Fetal Lung	lung
22	chr3:105464600-105471200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr3:105464600-105477400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:105464800-105469400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:105464800-105477400	Weak transcription	Liver	Liver
26	chr3:105464800-105477400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr3:105464800-105482600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr3:105465000-105471200	Weak transcription	HSMMtube	muscle
29	chr3:105465000-105472000	Weak transcription	HUVEC	blood vessel
30	chr3:105465200-105469600	Weak transcription	Placenta	Placenta
31	chr3:105465200-105471200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr3:105465400-105471200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:105465600-105471200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr3:105465600-105471400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr3:105465600-105478200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr3:105465800-105469200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:105465800-105469400	Weak transcription	GM12878-XiMat	blood
38	chr3:105465800-105469600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:105465800-105470000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr3:105465800-105471200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr3:105465800-105471200	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr3:105465800-105471400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:105465800-105471400	Weak transcription	HSMM	muscle
44	chr3:105465800-105471600	Weak transcription	Gastric	stomach
45	chr3:105465800-105477200	Weak transcription	Fetal Stomach	stomach
46	chr3:105465800-105477400	Weak transcription	Fetal Intestine Large	intestine
47	chr3:105465800-105477400	Weak transcription	Fetal Muscle Leg	muscle
48	chr3:105465800-105477400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr3:105465800-105483400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr3:105466000-105470800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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