Variant report

Variant	rs1838046
Chromosome Location	chr3:105485555-105485556
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11915926	0.84[EUR][1000 genomes]
rs12493181	0.84[EUR][1000 genomes]
rs12695123	0.84[EUR][1000 genomes]
rs13059405	0.84[EUR][1000 genomes]
rs1443106	0.83[EUR][1000 genomes]
rs1443108	0.83[EUR][1000 genomes]
rs1530420	0.80[EUR][1000 genomes]
rs2083758	0.84[EUR][1000 genomes]
rs2284993	0.80[EUR][1000 genomes]
rs2301050	0.80[EUR][1000 genomes]
rs2305034	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2305037	0.83[EUR][1000 genomes]
rs34520191	0.80[EUR][1000 genomes]
rs35834008	0.80[EUR][1000 genomes]
rs3772515	0.84[EUR][1000 genomes]
rs3772526	0.84[EUR][1000 genomes]
rs3772527	0.82[EUR][1000 genomes]
rs3772531	0.83[EUR][1000 genomes]
rs6773661	0.84[EUR][1000 genomes]
rs7646445	0.83[EUR][1000 genomes]
rs9821956	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9859953	0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9876767	0.84[EUR][1000 genomes]
rs9880861	0.84[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	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	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
3	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
4	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
5	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
6	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
7	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
8	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
rs1838046	CBLB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105467600-105509400	Weak transcription	Stomach Mucosa	stomach
2	chr3:105472200-105499000	Weak transcription	NHDF-Ad	bronchial
3	chr3:105472400-105504400	Weak transcription	HUVEC	blood vessel
4	chr3:105475200-105485600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:105476000-105486600	Weak transcription	Psoas Muscle	Psoas
6	chr3:105477800-105486800	Weak transcription	Colon Smooth Muscle	Colon
7	chr3:105478200-105495400	Weak transcription	HSMMtube	muscle
8	chr3:105478600-105486600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:105478600-105509400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr3:105478600-105511200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:105478800-105489200	Weak transcription	Right Atrium	heart
12	chr3:105478800-105496200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:105481200-105500800	Weak transcription	Small Intestine	intestine
14	chr3:105481400-105491600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr3:105481400-105509600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr3:105481600-105486600	Weak transcription	Adipose Nuclei	Adipose
17	chr3:105481600-105486600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:105481600-105498000	Weak transcription	NH-A	brain
19	chr3:105481800-105507400	Weak transcription	HSMM	muscle
20	chr3:105482000-105486600	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr3:105482000-105486600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:105482000-105486600	Weak transcription	Liver	Liver
23	chr3:105482000-105486600	Weak transcription	Esophagus	oesophagus
24	chr3:105482000-105492400	Weak transcription	HepG2	liver
25	chr3:105482000-105496200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:105482000-105496200	Weak transcription	Lung	lung
27	chr3:105482000-105503800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:105482000-105509200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:105482000-105509600	Weak transcription	Ovary	ovary
30	chr3:105482000-105510800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr3:105482000-105511200	Weak transcription	Aorta	Aorta
32	chr3:105482200-105494600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr3:105482400-105486400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr3:105482400-105486600	Weak transcription	Left Ventricle	heart
35	chr3:105482400-105486600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr3:105482400-105489400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr3:105482400-105489800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:105482400-105493600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr3:105482400-105494400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr3:105482400-105500000	Weak transcription	Fetal Stomach	stomach
41	chr3:105482600-105485800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr3:105482600-105486000	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr3:105482600-105486400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr3:105482600-105486600	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr3:105482600-105487600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr3:105482600-105487600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr3:105482800-105485800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr3:105482800-105486600	Weak transcription	Fetal Lung	lung
49	chr3:105482800-105487800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr3:105482800-105489000	Weak transcription	Fetal Intestine Small	intestine

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